Category Archives: Genetic Disorders

This category will cover topics on genetic and developmental disordersand their homeopathic treatment related topics

CYTOKINE STORM, Genetic Disorders, Heamatology, HOMEOPATHIC TREATMENT, Pediatrics, Rheumatology

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (HLH)

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Hemophagocytic Lymphohistiocytosis (HLH) is a type of Cytokine Storm Syndrome caused due to uncontrolled proliferation of morphologically benign Macropages and Lymphocytes secreting copious amount of Inflamatory Cytokines resulting into Hyperinflamation.

PATHOPHYSIOLOGY OF HLH

CAUSES OF HLH

Mutations or Single Neuclotide Polymorphism in certain genes gives rise to HLH it can be germ-line defect or may be acquired. There are other factors as well which may cause secondary HLH(sHLH).

  • PRIMARY HLH -Primary that is without any other underlying disease in background it is termed as HLH
  • SECONDARY HLH (sHLH) – HLH secondary to some other primary underlying disease condition or Iatrogenic factors in the backgroung is termed as Secondary HLH or (sHLH)

DISEASES THAT CAUSE SECONDARY HLH (sHLH)

MALIGNANT
  • T-cell lymphoma
  • B-cell lymphoma
  • ALL – Acute Lymphocytic Leukemia, 
  • AML – Acute Myeloid Leukemia,
  • Myelodysplastic Syndrome
NON-MALIGNANT
AUTOIMMUNE
  • Juvenile Idiopathic Arthritis
  • Juvenile Kawasaki Disease
  • SLE – Systemic Lupus Erythematosus
  • Juvenile/Adult onset Still’s Disease,
  • RA- Rheumatoid Arthritis
IMMUNODEFICIENCY
  •  Severe Combined Immunodeficiency 
  • DiGeorge Syndrome
  • Wiskott – Aldrich Syndrome
  • Ataxia – Telangiectasia
  • Dyskeratosis congenita
INFECTIONS
  • EBV -Epstein Barr Virus
  • CMV -Cytomegalovirus
  • HIV – Human Immunodeficiency Virus
  • nCoV2019/SARS-CoV-2 probable
  • Certain Bacterias, Fungus and Protozoas

IATROGENIC FACTORS THAT CAUSE SECONDARY HLH (sHLH)

  • Bone Marrow Transplant
  • Organ transplantations
  • Chemotherapy
  • immunosuppressive treatment

PATHOGENESIS OF HLH

HLH is caused due to genetic mutations that may be germ-line defect or acquired

Mutation in gene responsible for decoding a proyien protein in Cytotoxic T-cells and Natural Killer cells which killes virus infected is one of the known factor causing HLH

Genes that have been identified as contributor to HLH are UNC13D, STX11, RAB27A, STXBP2, LYST, PRF1, SH2D1A, BIRC4, ITK, CD27, MAGT1 any SNP or mutation in above mentioned gene that causes decfect in ability to kill virus infected cells or damaged cells.

As the Cytotoxic T-cells and NK-cells lose their ability to kill cells infected with virus or other damaged cells, due to mutation of above mentioned genes, consequently results into uncontroled proliferation of immune system secreting excess quantity of cytokines causing excessive accumulation of Interleukine 1, Interleukine 6, Tumour Necrosis Factor-Alpha, Tumour Necrosis Factor-gamma, Plasminogen Activating Factor, Ferritin etc.

Now excess of IL1,IL6&TNF-alpha leads to fever

TNF-alpha and TNF-gamma in excessive proportion aslo leads to suppression of Heamtopoesis resulting into Cytopenia and inhibition of Lipoprotein Lipase to stimulate Triglyceride Synthesis.

Excess of Plasminogen Activating Factor and Ferritin secreted by activated macrophages leads to Hyperfibrinolysis.

SIGNS AND SYMPTOMS OF HLH

In 70% cases the onset is below one year of age.

  • Fever, nausea, vomitting, weakness, debility
  • Hepatomegaly with fatty infiltration in liver
  • Elevated Liver Enzymes
  • Icterus and rashes
  • Spleenomegaly may also show multiple small granulomas in spleen
  • Lymphomegaly may also show calcified nodes
  • Erythrocytopenia- Reduced Red blood cells
  • Leucocytopenia – Reduced White Blood Cells
  • Thrombocytopenia – Reduced Platelets
  • Reduced Serum Albumin
  • Sphingomyelinase elevated
  • Reduced Fibrinogen
  • Elevated Ferritin especially in children of above 10000 is very sensitive and specific for HLH, but no so in adults.
  • Incresase D-Dimer, CRP and ESR

DIAGNOSIS OF HLH

All patient with Hyperferritinaemia combimed with Cytopenia should be suspected for HLH and soon be considered for further investigations without wasting time.

To be clinically corelated with above mentioned sign and symptom of clinical presentation and investigations and bone marrow biopsy as mentioned below

  • Bone Marrow Aspiration and Imprint may show Hemophagocytosis, Cellular Marrow having Dimorphic Maturation with increased Histiocytes and Megakaryocytes

Other Investigations

  • CBC – reduced RBC, WBC and Platelets
  • CRP elevated
  • ESR elevated
  • D-Dimer elevated
  • Serrum Ferritin elevated
  • Liver function Test – liver enzymes elevated
  • Ultrasonography of whole abdomen – Spleen, Liver and Lymphnodes enlarged

Homeopathic Treatment and Medicines of HLH

Its a life-threatening condition and one should not waste time even in suspected cases and all patient with elevated ferritin along with cytopenia should soon be sent for bone marrow biopsy and other confirmatory supportive tests and be kept under constant medical observation.

Homeopathic prescription for HLH should be strictly derived on basis of symptom similarity basis and the potency of homeopathic medicines and repetition of doses should be as per susceptibiloty of the patient and disease symptom and severity as per homeopathic principles.

Homeopathic Medicines for HLH

Below are few homeopathic medicines that could be theraputically indicated and may proove useful in cases of HLH.

  • Aconitum Nepellus
  • Belladona
  • Arsenicum Album
  • Lycopodium
  • Cholestrinum
  • Crategus Oxyacantha
  • Cinchonna Officinalis
  • Ferrum Phosphoricum
  • Tuberculinum
  • Syphillinum
  • Natrum Muriaticum

Homeopathic medicines for HLH should be strictly dispensed under guidance and observation of homeopathic physician

CYTOKINE STORM, Genetic Disorders, Heamatology, HOMEOPATHIC TREATMENT, Pediatrics, Rheumatology

AUTOIMMUNE HEMOLYTIC ANAEMIA AIHA

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Autoimmune Hemolytic Anaemia (AIHA) also called Immunohemolytic Anaemia is an autoimmune condition where in there are antibodies driven against our own Red Blood Cells. Due to which there is excessive destruction of RBC reducing oxygen carrying capacity of blood.

Pathophysiology

Causes of AIHA

Autoimmune Hemolytic Anaemia (AIHA) is believed to be caused due to genetic predisposition and environmental insults on the genome. Still no specific HLA locus has been found which can be related with AIHA in other words, no Human Leucocyte Antigen association has been established yet.

It can be also be secondary to other Autoimmune diseases, Cancers and Infections as mentioned below

1) Autoimmune diseases

  • Systemic Lupus Erythematosus (SLE)
  • Rheumatoid Arthritis(RA)
  • Crohn’s Disease
  • Ulcerative Colitis
  • Scleroderma
  • Autoimmune Hepatitis
  • etc

2) Cancers

  • Chronic Lymphocytic Leukemia
  • Non-Hodgkin’s Lymphoma
  • Other Blood Cancers

3) Infections

  • Mycoplasma infections
  • Cytomegalovirus(CMV)
  • Epstein-Barr Virus
  • Human Immunodeficiency Virus (HIV)
  • Infectious Mononeucleosis
  • Viral Pneumonitis
  • Viral Hepatitis

Differentiation of AIHA

Based on optimal temperature required for reaction of autoantibody of IgG class and autologous erythrocytes AIHA can be differentiated into

  • Warm Autoimmune Hemolytic Anaemia (wAIHA)
  • Cold Autoimmune Hemolytic Anaemia, further classified into i)Cold Aglutinin Disease (CAD) and ii) Paroxysmal Cold Heamoglobinuria(PCT). These both subtypes can be acute or chronic.
  • Mixed Type
  • Atypical (DAT- negative, IgM -wAIHA)
  • Drug Induced

Classification of AIHA

Clinically AIHA can be clasified as Primary or Secondary

Primary AIHA – It is also called Idiopathic AIHA has no known underlying causative factor and presents itself with hemolysis as predominant feature and other complaints are secondary to it. This type can either be cold or warm thermal relation to reaction mention in above differentiation.

Secondary AIHA – It is usually associated with some primary underlying disease condition. This type usually shows cold thermal relation in reaction that is Cold Agglutinin Disease Category.

Pathogenesis

Autoimmune Hemolytic Anaemia characterises itself by presence of Anti-RBC autoantibodies with or without activation of Complement-Cascade causing excessive destruction of Erythrocytes(RBC).

There are many mechanisms involved in pathogenesis of AIHA. It is a complex scenario with many mechanisms involing Autoantibodies, Phagocytosis, Antibody Dependent Cell-Mediated Cytotoxity, B Lymphocutes and T Lymphocytes, T regs, Cytokines, and Complement System.

Antibody Dependent Cell-Mediated Cytotoxicity (ADCC)

Auto-antibodies are formed by both tissue and circulating self reactive B-Lymphocytes in co-ordination with T-Helper Lymphocytes.IgG sub-classes IgG1 IgG2 IgG3 and IgG4 are involved in ADCC.

Cytotoxic CD8+ T cells and NK cells opsonize the RBC’s with fc portion of IgG for attracting fc receptors on macrophages thus resulting in destruction of RBC by phagocytosis. Occurs in Spleen and lymphoid organs.

Note- Spleenectomy in most cases doesnt have much effect on the disease as in slpeen the erythrolysis is in very lesser proportion in most AIHA cases.

Activation of Final Components of Complement Cascade (Membrane Attack Complex)- DIRECT LYSIS.

IgM dependent- IgM mediated compliment activation results in direct osmotic lysis of RBC, through sequential activation of Membrane attack complex(MAC), in circulation. Also C3b opsonisation of red blood cells by compliment activation results into extracellular erythrolysis by kufper cells of liver, 10 folds more destruction of RBC if compared to ADCC. IgG1 and IgG3 are also responsible in compliment activation to some degree. Majority of erythrolysis is extravascular especially in liver by kufper cells.

SIGNS AND SYMPTOMS

Symptoms develop gradually over months with presenting symptoms usually proportionate to degree of anaemia

  • General signs of anaemia depending on degree of anaemia like weakness, lethargy, breathless, etc
  • signs of Red blood cell destruction.
  • Heamoglobinuria
  • Spherocytes in RBC morphology
  • Increased LDH
  • Spleenomegaly
  • Hepatomegaly
  • Reticulocytes in Circulation
  • Hepatoglulin
  • Jaundice which may be mild to moderate or even severe
  • Angina

DIAGNOSIS of AIHA

  • COOMB’s Test
  • DAT test
  • CBC
  • LDH

HOMEOPATHIC TREATMENT FOR AUTOIMMUNE HEMOLYTIC ANAEMIA (AIHA)

  • Ferrum Metallicum
  • Ferrum Phosphoricum
  • Calcarea Phosphoricum
  • Calcarea Flourica
  • Ruta
  • Calcarea Carbonica
  • Lycopodium
  • Cinchonna Officinalis
  • Arsenicum Album
  • Lachesis
  • Naja
  • Chelidonium Majus
Allergies, Dermatology, Developmental disorders, Endocrinology, Gastroentrology, Genetic Disorders, Gynaecology, Heamatology, HOMEOPATHIC TREATMENT, Infectious diseases, Metabolic Disorders, Nephrology, Neurology, Nutrition, Oncology, Opthalmology, Orthopedic, Pediatrics, Psychiatry, Rheumatology, Trichology, Urology, Weight Management

ANAEMIA

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Anaemia can be defined as decreased haemoglobin counts or reduced red blood cell counts or reduced oxygen carrying capacity of blood, due to “loss of” or “abnormality of” red blood cells or haemoglobin.

Normal Heamoglobin Counts

  • 6 months to 5 years of age > 11g/dl
  • 5 years to 12 years of age > 11.5g/dl
  • 12years to 16 years of age > 12g/dl
  • Adult Females (non-pregnant) > 12g/dl
  • Adult Females (pregnant) > 11gm/dl
  • Adult Males > 13g/dl

CAUSES OF ANAEMIA

  • Blood losss
  • Excessive Red Blood Cell destruction
  • Heamoglobinopathies
  • Hypovitaminosis B12
  • Hypoferremia
  • Anaemia of Chronic diseases
  • Autoimmune haemolytic anaemia
  • Inflamatory bowel diseases
  • Hypervolemia or water retention due to sodium or other salts.
  • Genetic hereditary conditions like Thalasemia
  • Certain cancers
  • Kidney diseases
  • Reduced erythropoetin production
  • Excessive RBC destruction
  • Impaired RBC production
  • Certain infections like malaria which causes RBC destruction.
  • Certain drugs which causes RBC destruction eg. Quinine causes chinchonism.
  • Bone Marrow lesions and pathologies
  • Etc.

CLASSIFICATION OF ANAEMIA

There are many types of anaemias. It can be broadly classified into 7 categories depending upon their causes

Anaemia due to

  1. Blood Loss
  2. Hemolysis
  3. Impaired or abnormal Erythropoesis
  4. Hypervolemia
  5. Chronic Diseases
  6. Nutritional deficiency

Based on RBC morphology it can be classified into 3 groups

  • Microcytic
  • Macrocytic
  • Normocytic

FEW COMMON and RARE TYPES OF ANAEMIA

  • Iron Deficiency Anaemia
  • Aplastic Anaemia
  • Megaloblastic Anaemia
  • Pernicious Anaemia
  • Sideroblastic Anaemia
  • Autoimmune Hemolytic Anaemia
  • Myelodysplastic Syndrome
  • Thalasemia
  • Fanconi Anaemia
  • Congenital Dyserythropoetic Anaemia
  • Daimond-Blacfan Anaemia
  • Myelopthisis
  • Anaemia of Prematurity
  • Erythroblastopenia or Pure Red Cell Aplasia
  • Hereditary Spherocytosis
  • Hereditary Elliptocytosis

SYMPTOMS

  • Weakness
  • Lethargy
  • In children it affects growth in general
  • Somnolence, Drowziness in day time
  • Disturbed sleep at night
  • Pallor, general pale appearance of skin, mucous membranes and eyes.
  • Dyspnoea on Exertion.
  • Reduced Immunity, tendency to catch infections and slow recovery and healing.
  • Bodyaches
  • Cyanosis in severe cases
  • Palpitations
  • Tachycardia
  • Low blood pressure
  • Chest pain
  • Depression
  • Craving for indigestible things , PICA
  • Cold clammy extremities
  • Oedematous swelling of extremities, dependent oedema
  • Angina or cardiac failure in severe cases
  • Will impact general growth and repair of all the vital organs and tissue of the body.

HOMEOPATHIC MEDICINES FOR ANAEMIA

Depending upon the cause of anaemia and general constitution of the patient, one of the following medicines may be called for duty by a homeopathic physician.

  • Ferrum Metallicum
  • Ferrum Phosphoricum
  • Cinchonna Officinalis
  • Natrum Muriatic um
  • Arsenicum Album
  • Abrotanum
  • Hamamelis Verginiana
  • Pulsatilla Nigricans
  • Janosia Ashoka
  • Crotalus Horridus
  • Lachesis
  • Acidum Phosphoricum
Genetic Disorders, Heamatology, HOMEOPATHIC TREATMENT, Pediatrics

THALASEMIA

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Thalasemia is a genetic disorder where in mutation or deletion in any genes responsible to produce globin chain of haemoglobin results in abnormal haemoglobin production.

Normal adult has Haemoglobin A (HbA). HbA is a hetrotetramer of two α globin chains and two β globin chains. In normal humans there are total 4 genes (2pairs) for production of αglobin chain and 2 genes(1 pair) for production of β globin chain. When there is defect in genes producing α globin or β globin chains of heamoglobin it results into thalasemia.

TYPES

  • Alpha Thalasemia – Abnormal or dhieficient α globin chain production
  • Beta Thalasemia – Abnormal or deficient β globin chain production.
  • Delta Thalasemia – Abnormal or defective delta chain production.
  • Thalasemia in combimation with other haemoglobinopathies like – Haemoglobin S , Haemoglobin E, Haemoglobin C, Haemoglobin D.

Of the above all types the most common types alpha and beta are discussed below.

ALPHA THALASEMIA

Alpha Thalasemia has defective α globulin chain production. Genes responsible to produce α globin chain are situated on chromosome 16. HBA1 and HBA2 genes are responsible for production of α globin chain. Both the genes are acquired from both the parents so total two HBA1 and two HBA2 genes. So, there are two genes acquired from each parent making total 4 genes or two pairs(αα/αα) responsible to produce α globin chain.

Depending upon number of gene deleted the condition is classified into 4 categories

  • α Thalasemia Silent (1 gene deletion)
  • α Thalasemia Trait (2 gene deletion)
  • HbH disease (3 gene deletion)
  • Hb Bart Syndrome (all 4 gene deletion)

Alpha Thalasemia Silent

Any one gene deletion (-α/αα), one of the two allele not received from one parent. Usually there are no sign of anaemia as the remaining three genes produce sufficient alpha globin chains. Althought they dont show symptoms they are the silent carrier and if married to person with one or more α globin making gene deletion then some of their offsprings will have symptoms, probability and severity of the disease in the offsprings will depend on number of gene deletion in the partner.

Alpha Thalasemia Trait

Any two gene deletion, it can be of two genotypes as descussed below, this type shows mild anaemia symptoms.

  1. Two gene deletion – homologous; one of the two allele not received from each parent(-α/-α).
  2. Two gene deletion- heterologous; both the alleles not received from one parent (–/αα).

HbH Disease

Three gene deletion (–/-α) No copy of gene received from one parent and only one of the two copy received from another parent. These causes very low α chain production resulting into excess proportion of β chains causing formation of unstable haemoglobin tetramer made up of 4 β globin chains, instead of two α and two β. This type of haemoglobin with all 4 globin chain of β globin is called HbH which is very unstable. These individuals shows moderate to severe anaemia and other thalasemia related symptoms.

Hb Bart Syndrome

All four gene deletion (–/– )No copy of α chain producing gene received from either of the parent. It is a fatal condition where in there are no α chains produced and results into severe fetal condition called hydrops fetalis. Death ensues soon after birth.

BETA THALASEMIA

Beta thalasemia has defective β globin chain production. For production of β globin chain there is only one gene acquired from each parent makin it total one pair(β/β) i.e total 2 genes responsible to produce β globin chain. Gene Responsible for production of β globin chain is called HBB and is located on chromosome 11.

Beta Thalasemia Minor

  1. (b/β) One gene received from a parent is altered and the one from other parent is normal.
  2. (-/β) No gene received from a parent and the gene received from another parent is normal.

Beta Thalasemia Intermedia

  1. (b/-) One copy of gene received from a parent altered and one from another parent is absent.
  2. (b/b) Genes received from both the parent are altered.

Beta Thalasemia Major

  • (-/-) No genes producing β globin chain received from either parent.

SIGNS AND SYMPTOMS

Symptoms and its severity depends upon the above mentioned severity of genotype the individual has few complaints which patient with this disease condition show are mentioned below.

  • Anaemia
  • Iron Overload
  • Bone deformities
  • Enlarged spleen
  • General growth is slow
  • Ferquent Infections
  • Cardiac complaints

DIAGNOSIS

  • Complete blood count
  • Hb Electrophoresis
  • DNA analysis.

HOMEOPATHIC TREATMENT AND INDICATED HOMEOPATHIC MEDICINES FOR THALASEMIA

  • Cinchonna Officinalis
  • Abrotanum
  • Natrum Muriaticum
  • Phosphorus
  • Calcarea Phosphorica
  • Calcarea Carbonica
  • Calcarea flourica
  • Ruta Graveolens
Developmental disorders, Genetic Disorders, HOMEOPATHIC TREATMENT

DMD – DUCHENNE MUSCULAR DYSTROPHY

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DMD – DUCHENNE MUSCULAR DYSTROPHY also called DUCHENNE SYNDROME is a X linked recessive genetic disorder; classified under progressive neuromuscular disorders; where in there is mutation of gene expressing the cytoplasmic protein “Dystrophin” causing muscle weakness and wasting.

DYSTROPHIN

Dystrophin expressing gene is one of the longest human genes known with 2.3 megabases present on short arm of chromosome X present at locus xp21,

Various proteins colocalises with dystrophin to form Dystrophin-Associated Protein Complex or Costamere. Costamere is an integral component in maintaining structural-functional integrity of striated muscle cells. As Costamere are responsible for linking of internal cytoskeletal system of each muscle fibers to extracellular matrix of collagen and laminin through cell membrane. So costamere connects sarcomere through sarcolemma to the extracellular matrix. So mutation in gene responsible for expressing cytoplasmic protein dystrophin causes structural-functional loss of muscle cell resulting into muscular dystrophy.

Dystrophin plays major role in function of binding of following molecules

  • Nitric Oxide Synthase
  • Dystroglycan
  • Vinculin
  • Myocin
  • Actin
  • Other proteins
  • Zinc and other metal ion
  • Other cytoskeletal and muscle constituents

THUS DYSTROPHIN PLAYS MAJOR ROLE IN BIOCHEMISTRY OF MANY PHYSIOLOGICAL ACTIVITIES

  • Regulates Ryanodine-sensitive calcium-release channel activity, release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, activity of voltage-gated calcium channel. It is required in activity of Sodium ion transmembrane activity.
  • Downregulates peptidyl-cysteine S-nitrosylation and peptidyl-serine phosphorylation, Cellular protein localization, cellular macromolecular complex assembly, peptide biosynthetic process.
  • Upregulates Neuron differentiation, neuron projection development, sodium ion transmembrane transporter activity.
  • Cardiomyocyte action potential, contractibility by regulating release of sequestered calcium ion thus playing major role in regulating the Heart Rate.
  • Myocyte cellular homeostasis. Myofibril development, sliding, response to stretching, Regulates skeletal muscle contraction by regulating release of sequestered calcium ion, required in cytoskeleton organization.
  • It regulates cellular response to Growth Factor stimulus. Thus it is also required in growth and development of muscle organ.

EPIDEMIOLOGY OF DMD

Duchenne’s Muscular Dystrophy one of the most common type of muscular dystrophy affecting 1 in every 5000 male at birth with life expectancy of affected individuals of around 25 years on an average. Many cases show increase in life expectancy of up to additional 10-15 years with proper care and management.

SIGNS AND SYMPTOMS OF DMD

DMD presents itself with progressive muscle wasting, general weakness fatigue, debility, in later stages complete loss of power in muscles. This loss of power is attributed to muscular dystrophy rather than nerve involvement which is evident on EMG.

Initially there are not many noticeable symptoms but some parents may complaint of child having difficulty in milestone of turning over, or they may say not able to walk properly or “never saw him running or climbing stairs”.

Mental signs and symptoms may start presenting itself more evidently, well in advance, even before physical symptoms become evident. They may show cognitive difficulty, parents may complaint about child having difficulty in talking or getting words, short term verbal memory, many show symptoms of Dyslexia or ADHD and mental symptoms tend to improve after occupational and speech therapy during early childhood but again worsens in later stage of disease.

Physical signs and symptoms starts becoming frankly noticeable only after age of 2-3yrs as described below

General muscle wasting with muscle contractures due to fibrosis the muscles becomes short and they have hypertonicity with much of muscle fibre replaced with fibrous tissue or fat accumution all this gives rise to Pseudo-hypertrophy of muscles especially of calf, hips and shoulders, even tongue becomes thick and enlarged.

At first the muscles of calfs, extensor of knees other muscles of thigh and hip joint are involved then other pelvic muscles and shoulder gets involved so the disease progresses from below upwards

Skeletal deformities due to abnormal muscle tension distribution causing abnormal gait and resultant skeletal deformities like scoliosis, lumbar hyperlordosis

Difficulty walking -typically patient walks on forefeet or toes, running, jumping, hopping, climbing upstairs or down stairs.

Difficulty standing up from lying or sitting posture. Positive Gower’s Sign. If patient is sitting on ground he typically first puts his arms on floor and transfer upper body weight to ground through arms and the lifts pelvic region now with both arms and both knees touching ground and middle body lifted up, he then lifts one knee by putting foot on ground then he works his arms to lift other knee and then stand up by supporting thigh.

Due to muscle dystrophy and weakness patient has abnormal gait and they tend to fall to frequently so they frequently complaint about bodyaches which seems more to be due to trauma due to frequent falls rather than due to disease itself.

In later stages there is complete loss of ability to walk at around 12 yrs of age around and later on at around age of 20yrs there is complete inability to move body from below neck.

Patient’s respiratory muscles gets involved in later stage causing respiratory disorders where in they are required to be assisted with artificial ventilation. Food and fluids pass into respiratory passage. Patient may suffer from severe frequent Pneumonia.

Average life span of person is around 25 years and very few with extreme care have reported to reach out 45yrs of age.

Laboratory Investigations Shows

  • Cardiomyopathies (disorders of heart muscles) causing arrythmias (abnormal heart rhythm)
  • High blood Creatine-Kinase level.
  • Defects in Xp21 gene
  • Biopsy of muscles shows absence of dystrophin
  • High blood Creatine-Kinase level.
  • EMG shows changes of muscle dystrophy rather than nerve involvement

DIAGNOSIS OF DMD

  • DNA testing
  • Muscle Biopsy
  • Prenatal Screening

HOMEOPATHIC TTREATMENT WITH INDICATED MEDICINES FOR DMD

As DMD is a deep seated genetic complaint that passes on generation to generation. So Homeopathic constitutional approach is required and more the disease becomes deep seated and more it passes on from generation to generation the more it starts manifesting it’s symptoms in mental sphere. So mental symptoms are to be carefully evaluated for Homeopathic individualisation at the same time one should not forget that even though the disease has manifested in mental sphere but it’s more pronounced on physical sphere where it shows typical ascending type of muscle wasting. Muscle dystrophy is due to defective production of dystrophin which primarily is functional disturbance and structural loss is secondary to it. So basically Psora has strongly established itself from generations to generations within the constitution of these patients.

HOMEOPATHIC MEDICINES FOR DMD

  • Abrotanum – ascending muscle wasting – If one medicine for DMD patients is to be opted, which in most cases will act to certain degree, then my bet will be on abrotanum – personally I have got notable results with this medicine in cases of DMD if posology is well taken care of while administering, as in homeopathy it’s potency selection and repetition is the key to break the case!
  • Baryta Carb
  • Calcarea Carb
  • Calcarea Phos
  • Stannum Metallicum
  • Alfalfa
  • Agaricus Muscarious
  • Arsenicum Album
  • Zincum Metallicum
  • Phosphorus
  • Acidum Nitricum

SUPPORTIVE TREATMENT AND MANAGEMENT

Exercise -mild non-jarring like swimming helps maintain muscle strength without stressing or damaging it much

Physiotherapy helps to maintain muscle tone.

Supportive rehabilitation kits and orthopedic appliances like braces etc

Artificial respirator support in later stages when respiratory muscles starts weaknening

Pacemakers in patients with arrhythmia

Endocrinology, Genetic Disorders, HOMEOPATHIC TREATMENT, Metabolic Disorders, Nutrition, Psychiatry, Weight Management

OBESITY

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Obesity has reached at pandemic levels and has become a subject of concern as it is directly related to many diseases.

As obesity is directly associated with many diseases, so it needs to be studied properly in all its dimensions so as to prevent it, treat it and also to understand all the underlying factors related.

Diagnostic Measurements and Evaluation Methods for Level of Obesity

To measure fat ratio in our body there are many highly technical ways but clinically feasible and practical are the following 3 ways which are widely used.

  1. BMI – Body Mass Index, where the body weight is related with height BMI=Body Mass/ (Body Height)². It is measured as kg/m². BMI of 18.5 to 25kg/m² is considered to be normal, below 18.5kg/m² underweight, 27-30kg/m² overweight, above 30kg/m² Obese. In general a subject having BMI above  27kg/m² and below 18.5 kg/m² is considered to be at health risk.
  2. Various Circumferences of body and their relation and ratio with each other, especially waist to hip circumference ratio. Distribution of fat also determines the risk factor as it is observed that central or visceral obesity where fat accumulates in belly around abdominal organs and on trunk is observed to have more health risk compared to diffused subcutaneous fat accumulation.
  3. Skin Fold Measurement is also one of the ways to measure fat proportion. This method which gives us better idea about subcutaneous fats. Skinfold measurement when taken along with the other two above mentioned methods gives us a better comparative ratios and evaluation of body fat measurements.

Risk Factors of Obesity

Not only genetics but also environment plays a major role e.g. Its observed that Asian shifting to USA (the obesity capital of world), ratio wise more tend to become obese compared to their counterparts in their country.

Few of the risk factors are mentioned below

  • Genetics and familial predesposition
  • Enviroment and staple food of the region
  • Sedentary lifestyle
  • Irregular sleep pattern
  • lrregular meal pattern
  • Low protein intake
  • High carbohydrate and sugar intake
  • Certain Metabolic Disorders
  • Hypothyroidism
  • Diabetes Mellitus
  • PCOS polycystic ovarian disease
  • Certain Medications
  • Certain Psychiatric Eating Disorders
  • Bigorexia/muscle dysmorphia
  • Body Dismorphic Disorder
  • Anorexia Nervosa
  • Orthoxia nervosa
  • Depression
  • Anxiety
  • Night Eating Syndrome
  • Certain injuries deformities and disabilities that makes patient immobile which causes weight gain.

Pathophysiology of Obesity

To simplyfy the understanding of causation of obesity; which otherwise is too complicated to comprehend with a single article; I have explained it in a broader sense and summarised its essense as follows:

“Obesity is the disease of low energy utilisation compared to intake!”

“When the intake of energy exceeds its utilisation, it then get converted into triglycerides and is stored in adipose tissues causing obesity”

There are many factors that are responsible for obesity but the recent research has come up with an interesting mind boggling study of one of such factor that is the molecule Leptin.

Leptin and Ghrelin with other endocrinal molecules controls Appetite and Satiety centers through hypothalamus. Is a complex Hypothalamo-pitutary-endocrinal axis that is inovolved in the mechanism.

Of all the other various factors, Leptin needs a special reference and attention when it comes to obesity. As Leptin not only controls Apetite but also controls Thermogenesis and other Catabolic processes.

Role of Leptin in Apetite Control

Adipocytes communicate with satiety centers present in hypothalamus by secreting a polypeptide called Leptin. The levels of Leptin are determined by the amount of fat stores in the body. Leptin interacts with the hypothalamus by attaching to Leptin receptors.

When Lateral Hypothalamus(LH) is stimulated it increases appetite and vice a versa.

When Venteromedial Hypothalamus(VMH) is stimulated it creates satiety and vice a versa.

Level of Leptin and its relation with certain appetite controling molecules through Stimulation or inhibition of LH and VMH is as follows:

  • Inversely proportional to a powerful appetite stimulators like Neuropeptide Y(NPY) and Agouti Related Peptide(AgRP). Resultant Stimulating LH and Inhibiting VMH
  • Directly proportional to powerful appetite inhibitors like Glucagon Like Peptide-1(GLP-1), Pro-opiomelanocortin(POMT) and Cocaine and Amphetamine Regulated Transcript(CART). Resultant Stimulating VMH and inhibiting LH

Role of Leptin in Catabolic Processes.

Leptin receptor stimulation increases

  • Energy expenditure
  • Physical activity
  • Thermogenesis(heat production)

Role of leptin in Energy Expenditure, Physical Activity and Thermogenesis

  • Stimulation of leptin receptors in hypothalamus stimulates secretion of Norepinephrine from sympathetic nerve endings in adipose tissue.
  • This stimulates β3-adrenergic receptors expressed by fat cells which results into hydrolysis of fatty acids.
  • This results into release of energy which is dissipated in the form of heat.

Also there are other catabolic effects of leptin which are mediated through Hypothalamo-Pitutary axis which goes through the channel of endocrinal system by stimulating endocrinal glands.

Deletion or SNP of Leptin producing gene causes leptin deficiency resulting into extreme obesity.

Complications and Diseases Associated with Obesity

Obesity complicates almost all the diseases and precipitates many life threatening chronic diseases.

Few of them which needs special reference are

  • Hypertension
  • Diabetes Mellitus
  • Osteoarthritis
  • Gout
  • Lumbar spondylodis
  • Sciatica
  • Meralgia Paraesthetica
  • Artherosclerosis
  • Hypertriglyceridemia
  • Hypercholestrolemia
  • Low HDL
  • Cardiomegaly
  • Congestive Cardiac Failure
  • Ischemic Heart Diseases
  • Deep Vein Thrombosis
  • Pulmonary Embolism
  • Fatty Liver
  • Cholelithiasis
  • Hypoventilation syndrome
  • PCOS
  • Infertility
  • Erectile Dysfunction
  • Hypogonadism
  • Burried male genitals
  • Depression
  • Certain Cancers

HOMEOPATHIC MEDICNES AND MANAGEMENT FOR OBESITY

To Lose Weight in obese patient who wants to reduce weight it is necessary to rule out all the pathological factors which may be responsible for obesity and if any found then first the underlying abnormalities needs to be treated first.

Each case preferably needs to be individualised properly as per homoeopathic principles for medicine selection, to yield best results of homoeopathic medicines.

Though , there are some generally used common homoeopathic medicines to lose weight which I have simplified to select by providing basic guidelines which are hard to fail in most of the cases,

  1. Phytolacca Berry well proven homoeopathic medicine for weightloss in general.
  2. Fucus Vesiculosus compliments well to phytolacca berry and when both given intermittently during weightloss treatment works wonders.
  3. Calcarea Carbonica Generalised obesity, for fair, fat and flabby women especially in their forties, mentally and physically sluggish , well suited to women with thyroid disorders.
  4. Thuja Occidentalis obesity due to excessive hunger and abnormally high appetite.
  5. Ignetia Amara obesity in females due to depressing emotion and PCOS.
  6. Thyroidinum obesity due to thyroid disorder
  7. Sepia obesity in female do to Polycystic Ovarian Syndrome (PCOS)
  8. Iodium obesity due to disorder in thyroid glands
  9. Bromium obesity due to disorder in thyroid gland
  10.  Nux Vomica for weight gain due to sedentary lifestyle, irregular dietary habbits, irregular routine, lack of sleep, typical central obesity.

Weight Management

  • To lose weight a person needs to keep strict control on his diet and need to do exercise on regular basis along with medicines for faster and better results.
  • One needs to keep check that he doesnt lose muscle mass in the process
  • I recomend to completely stop sugar and jaggery
  • Oil and Ghee not more than 1-2 tsp throughout the day
  • Increase protien intake as per intensity of workout
  • Increase fiber intake in form of salads and fruits that are not too sweet
  • 4-5 small meals throughout the day
  • Ample of water throughout the day
  • 1 hour yoga or brisk walk
  • Intense workout under professional guidance for those wants to achieve subnormal so called ripoed and defined body.
  • Atleast 7 hours of continious sleep at a stretch is recomended.
Genetic Disorders, HOMEOPATHIC TREATMENT, Orthopedic, Rheumatology

ANKYLOSING SPONDYLITIS

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ANKYLOSING SPONDYLITIS (AS) / MARIE’s Disease / BEKTEREV’s Disease is a Chronic Autoimmune or Autoinflamatory systemic disease which predominantly affects joints and bones of Spine and Pelvis

It falls under AXIAL SPONDYLOARTHRITIS Category.

CAUSES OF ANKYLOSING SPONDYLITIS

Causes are obscure, though Genetics Environmental Factors and Lifestyle in combination are believed to be involved in causation of Ankylosing Spondylitis (AS)

It falls under Sero-negative Systemic Rheumatic  disease where its believed to be mediated by Autoimmune or Autoinflamatory response.

Human Leucocyte Antigen HLA B27 subtypes B2701and B2759  are class I antigen encoded by B locus of Major Histocompatibility Complex (MHC) on Chromosome 6 and presents antigenic peptides (derived from self and non self antigens ) to T cells. HLA B27 is strongly associated  with Ankylosing Spondylitis as 90% of patient showing symptoms of Ankylosing Spondylitis has a genotype presenting it. and 2% of all having genotype expressing HLA B27 contracts Ankylosing Spondylosis.

PATHOGENESIS OF ANKYLOSING SPONDYLITIS

Pathogenesis of AS is still not clear and many factors associated with the pathophysiology directly or indirectly  have been identified

  • Human Leucocyte Antigen (HLA B27 subtypes B2701and B2759)  are class I antigen encoded by B locus of Major Histocompatibility Complex (MHC) on Chromosome 6 and presents antigenic peptides (derived from self and non self antigens ) to T cells. HLA B27 is strongly associated  with Ankylosing Spondylitis as 90% of patient showing symptoms of Ankylosing Spondylitis has a genotype presenting it. and 2% of all having genotype expressing HLA B27 contracts Ankylosing Spondylosis.Now this association with HLA B27 suggests possible link with  CD8 T cells though not proven to involve self antigen it might also be due to reactive arthritis following infection and the antigen might be derived from intracellular microorganism; HLA B27 has many unusual varied properties also it has ability to interact with CD4 so possible association of CD4 in AS is also a probability.
  • Tumour Necrosis Factor α   (TNF α) is found to b implicated in Ankylosing Spondylitis
  • Interleukine 1 (IL 1) is also associated in pathogenesis of Ankylosing Spondylitis
  • Anti-Neutrophil Cytoplasmic Antibodies (ANCAs) are associated with Ankylosing Spondylitis but is not indicator of severity of disease
  • Autoantibodies Specific to Ankylosing Spondylitis have not been identified
  • PTGER4 gene codes for prostaglandin EP4 receptor(EP4). which is associated with bone remodeling and deposition and is highly expressed in those sites of vertebral coloumn which are involved in Ankylosing Spondylitis . Single Neucleotide Polymorphism (SNP) of A/G variant rs10440635a close to the PTGER4 gene on human chromosome 5  possibly influences excessive production of EP4  which causes excessive bone remodelling and deposition in Ankylosing Spondylosis ; though this type of SNP and its association with increased rate of Ankylosing Spondylosis is found only in few ethnic groups

All these and other unknown factors contribute in pathogenesis of Ankylosing Spondylitis which typically results in Annulus Fibrosus Disci Intervertebralis (fibrous ring) of intervertebral disc to OSSIFY which results in the formation of marginal SYNDESMOPHYTES between adjoining vertebrae giving rise to BAMBOO SPINE type appearance of spine

SYMPTOMS AND DIAGNOSIS OF ANKYLOSING SPONDYLITIS

Genetic Testing For Ankylosing Spondylitis

HLA B27 is a non specific test For Ankylosing Spondylitis

As although 90% of those who have AS are HLA B27positive(50% in african-americans and 80% in mediterrenean)

But it has seen in many ethnic group ;esp north scandivanian;that Only 2 % of total HLA B27 positive have AS

Blood Test for Ankylosing Spondylitis

There are no specific Blood Tests Available for AS except for general inflamatory indicators like ESR and CRP which are elevated and tend to increase further on acute episode

Radiological Investigation For Ankylosing Spondylitis

There are no specific Blood Tests Available for AS So its diagnosed based on typical radiological changes but it takes 8-10 years for the disease to become evident enough to establish diagnosis neither CT or MRI can evaluate the disease in early stages

Typical radiological features are:-

  • Axial Spondyloarthritis
  • Early Xray changes include erosion and sclerosis of sacroilliac joints
  • in later stage that erosion increases resulting in pseudo-widening of joint space and Bony Ankylosis
  • squaring of vertebrae with spine ossification with fibrous band running longitudinally called syndesmophyte giving a bamboo spine appearance

Now in case where there are no evident radiological signs it becomes difficult to establish diagnosis as there are no specific blood tests for AS. In such cases clinical features signs symptoms and other non specific blood tests are conducted to evaluate the probability of AS; they are :

  1. Chronic backache with insidious onset before age of 40yrs which has peculiar modalities- Aggravates on rest ;at night and Ameliorates on moderate movement ;exercise ; after getting up from bed in morning
  2. History of inflamatory arthritis or tendinitis
  3. Family history of axial Spondylosis
  4. Positive HLA B27
  5. Responds well to NSAIDs
  6. Elevated ESR and CRP
  7. Other accompaning conditions like IBS Uveitis psoriasis
  8. Schober’s test is a clinical performed during physical exam which is measure of flexion of lumbar spine.

BATH ANKYLOSING SPONDYLITIS DISEASE ACTIVITY INDEX

BASDAI index score is an index which is based on multiple clinical radiological genetic and blood parameters which helps in establishing stage and diagnosis and determine type of management and treatment required

BATH ANKYLOSING SPONDYLITIS FUNCTIONAL INDEX

BASFI index to acess functional impairment

 

GAIT

HUNCHED POSTURE is a severe complication of AS resulting due to complete spinal fusion leading to increased spinal KYPHOSIS which results into forwar and downward shift of Center of Mass to compensate it the knee flexes and ankle dorsiflexes.Their gait has a cautious pattern as they have reduced shock absorbing ability and cant see horizon.

INDICATED HOMEOPATHIC MEDICINES FOR ANKYLOSING SPONDYLITIS

RHUS TOX

Rhus tox is the most common homoeopathic medicine which is very valuable in case of Ankylosing spondylitis, and is useful in various kinds of pains. Rhus tox affects the multiple systems of the body indcluding spine, joints, extremities, skin and mucus membrrane. Patient usually presents with stiffness of back associated with restlessness, is the key indication of this remedy. Pains are aggravated after a period of inactivity. There is marked stiffness, lameness, and pain in the lumbosacral area of back and hips to thighs. Rheumatic pains spread over a large surface area at the nape of neck, back, loins extremities. The small of back aches while sitting. Painfull stiffness on rising from seat. We are led to think of this remedy where we find an irresistible desire to move or change the position constantly. After
resting for a while, when he wakes up and takes a first move, a painful stiffness is felt.

CIMICIFUGA RACEMOSA

Cimicifuga racemosa is one of the indicated remedy for ankylosing spondylitis where there is marked stiffness in the neck area. The patient usually presents with excessive stiffness in the neck with severe pain. The neck muscles feel retracted, neck stiffness is worsened by cold air. The muscular and crampy pains are primilarily are of neurotic origin, occuring nearly in every part of the body. Pains of Cimicifuga are like that of electric shock, which come and go suddenly. Violent lightening type of pain in posterior spinal sclerosis, stiff neck from cold air. Sensitiveness of spine especially in cervical and upper dorsal region. Severe aching pain in lumbar and sacral region.

KALMIA LATIFOLIA

Kalmia is a great rheumatic remedy. Dr Hering introduced Kalmia into homeopathic practice, he himself and his friends being the first provers. Kalmia is one of tbe efficient remedy in ankylosing spondylosis cases where pain and stiffness are marked in lower back,lumbosacral region and neck area. The pains are accompanied with heat and burning in affected area. Pain is attended with excessive stiffness in neck. The pain from neck often radiates down the arms or scapula. Violent pains in the upper dorsal vertebrae. Constant pain in spine. Sensation as if spinal column would break with an anterior convexity and feeling of paralysis in saccrum.

GUAIACUM

Guaiacum is one of the Hahnemans antisporics, is one of the beat known remedies in rheumatism, gout, ankylosing spondylitis. There is Pressure on the vertebrae of the neck. Stiffness in the back, extending from neck to small of back and saccrum, intolearable on slightest motion. Indicated when there are contractive pains between the scapulae. Stiffness from neck may extend to shoulder blades and its painful. All pains are aggravated from motion and heat and relieved during rest.

KALI CARBONICUM

Kali carbonicum is very useful in deep seated diseases lime Ankylosing spondylosis. Kali carb patient presents with severe back pain with stiffness. Small of back feels weak. There is marked Stiffeness and paralytic feeling in the back. Marked indication of kali carb is severe backache during pregnancy and after miscarriage. Burning in the spine. Lumbago with sudden, sharp pains extending up and down of back to thighs. Weakness caused by all potassium salts is more pronounced in this typical salt of potassium
group. Sharp stitching, stabbing pain felt in various parts of the body. Severe backache must lie down for relief.

AESCULUS HIPPOCASTANUM

Aesculus is one of the indicated remedy in ankylosing spondylitis. The main feature of Aesculus is matked pain in lumbosacral area of the back and hips with extreme stiffness. Pain from back radiates to thighs. Lameness in neck. Aching pain between the ahoulder blades, region of spine feels weak. Backache affecting saccrum and hips worse walking or stooping. When walking feet turn under. Rising from seat seems difficult, has to make repeated efforts. Severe pain in lumbosacral region making movement impossible.

SILICEA

Silicea is a very valuable remedy in case of spondylitis. The action of silicea is slow. In the proving it takes long time to develop symptoms. It is therefore suited to complaints which develop slowly. Presents with ankylosing spondylitis with stiffness in nape of neck with severe headache. Coccyx painful as after a long carriage ride. Weakness and paralytic stiffness in back, loins and nape of neck. Swelling and distortion of spine.Aching, shooting, burning and throbbing pain in lumbosacral region with contussive pain between shoulder blades.

COLOCYNTH

Colocynth has a long lasting action on the spine and nerves. The main feature of colocynth is severe pain in the back which finally settes down on the upper part of thigh and buttock. Pain usually confines to small spot making the patient limp and finally becomes so severe that he can neither stand nor walk. Severe burning pain along the saccrum, cramps in hip. Feels better by doubling up, hard pressure and warmth.

CONIUM MACULATUM

Conium maculatum is deep acting antisporic remedy, its action disturbs almost all the tissues of the body. Very well indicated in ankylosing spondylitis of back, weakness is the most striking feature with dorsal pains. Effects of bruises and shocks to spine. After injuries especially in lumbar region. Severe rheumatic pains. The pains are relievex by putting feet on chair. Pain between the shoulder blades. Dull aching pain in lumbar and sacral region.

CALCAREA PHOSPHORICUM

Calcarea phos is a great tissue remedy, though it resembles calcarea carb in many aspects but has its own characteristic symptoms. The spher of phosphate of lime includes all bone diseases whether due to some inherited dyscrasia or defective nutrition in osseous and other structures. It is.a bone salt.without this element no bone is formed, hence it is a valuable remedy. Patient usually presents with weakness of spine, there is curvature of spine towards left , lumbar vertebrae bent towards left. Soreness in sacro iliac symphysis. Rheumatic pains from draught of air with stiffness of neck and back.