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Treatment Options for Gaucher's disease

  • 21 Aug, 2018
  • By UHAPO
  • 1043

Gaucher’s disease is a rare metabolic disease, a type of Lysosomal storage disorder (LSD). It is the commonest LSD worldwide as well as in India. An enzyme deficiency leads to excess glycolipid glucocerebroside throughout the body including spleen, liver, bone marrow, brain, osteoclasts and less commonly in lungs, skin, kidneys, conjunctivae and heart. It is important to meet the right specialist who can offer the best treatment to your child. Your pediatrician will refer you to the specialist depending on the type of disease - a haematologist for management of visceral, haematological and bone conditions. Type 2 (Neuronopathic disease) is best managed by a Pediatric neurologist. The patient will be referred to other doctors like medical geneticist, orthopedician and neuro-ophtalmologist. The three types of Gaucher disease (GD) are - type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Enzyme replacement Therapy (ERT) has offered hope to symptomatic patients of GD 1 and GD 3. It reduces the liver and spleen size and bone symptoms, and improves blood counts. It is not very effective in type 2 as it does not cross blood brain barrier. The parents and family need to be explained about the chronic and progressive nature of Gaucher disease. Psychological counseling is important for patients and relatives. Since parents may be carriers of the defective gene, prenatal counseling is done to explain that every child has a 25% chance of having the disease. Prenatal diagnosis can be done by enzyme analysis of fetal cells at 16 weeks of pregnancy. Enough emphasis cannot be laid on importance of timely consultation with the right doctor to enable early diagnosis and treatment of this condition. Safe and efficient enzyme substitution therapy and other treatments are available. Right dose and early therapy are effective in stopping disease progression. The visceral and haematological abnormalities can be reduced and irreversible bone deformities may be prevented; on the whole, the patient can be offered a better quality of life.