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GAUCHER DISEASE

GAUCHER DISEASE

Gaucher disease is a rare, inherited metabolic disorder occurring due to the storage of fatty substances, specifically -glycolipid glucocerebroside in organs like liver, spleen and bone marrow. This mainly occurs due to the deficiency of glucocerebrosidase enzyme and is listed under lysosomal storage disorder (LSD).

SYMPTOMS

Symptoms vary across each individual and also differ according to the type of Gaucher disease. Some have mild or no sign of symptoms.

Common signs and symptoms are:

  • Weakening of bones leading to bone fractures and bone pain.
  • Arthritis, osteoporosis and osteonecrosis.
  • Anemia (low number of red blood cells), leading to fatigue
  • Thrombocytopenia (low level of platelets) leading to easy bruising and bleeding of nose.
  • Enlargement of liver and spleen (hepatosplenomegaly) due to accumulation of fatty chemicals.

TYPES:

  • Type 1: most common occurrence and affects liver, spleen, bones and blood. Occurs from childhood to adulthood.

Common symptoms – chronic fatigue caused due to low RBC count(anemia), easy bruising and bleeding caused by low platelet count (thrombocytopenia) and enlargement of spleen and liver. Lack of blood supply to bones leading to bone pain, deformity and degeneration of bones, weakening of bones.

  • Type 2: known as Acute neuronopathic Gaucher disease, affects the brain leading to neurological complications. Occurs in new-born babies.

Common symptoms – Spleen enlargement, severe damage in brain leading to difficulties in motor skills, low muscle tone, involuntary muscle spasms, crossed eyes, feeding difficulties.

  • Type 3: known as Chronic neuronopathic Gaucher disease. Occurs in kids under the age of 10 years.

Common symptoms – brain issues, bone, lung disease and other organ problems.

HOMOEOPATHIC APPROACH

Homoeopathy today is a rapidly growing system and is being practiced all over the world. It strength lies in its evident effectiveness as it takes a holistic approach towards the sick individual through promotion of inner balance at mental, emotional, spiritual and physical levels. When  is concerned there are many effective medicines available in Homoeopathy , but the selection depends upon the individuality of the patient , considering mental and physical symptoms

Few homoeopathic medicine can be thought of in the management  of Gaucher disease are:

silicea, ceonathus, chelidonium, ferrum phos., china, etc.