What is Gaucher’s disease?

 Gaucher's disease is the most common of the lysosomal storage diseases. It is pronounced as GO-SHEY.  It results from deficiency of a specific enzyme in the body caused by genetic mutation present in both parents. This deficiency leads to accumulation of an abnormal fatty substance in different organs of the body such as liver, spleen, brain, bone marrow and lungs.

 How is Gaucher's disease transmitted?

 Gaucher’s is an autosomal recessive disease and affects males and females alike. Both parents need to be carriers (or have the disease) for the child to have Gaucher’s disease. This is more likely if the parents get married within a family as is seen  in certain states of India like Karnataka. If both parents are carriers there is a 25% chance that the child will neither be a carrier nor have the disease, or 50% chance that child will be carrier but not have disease, and 25 % chance that the child will have Gaucher’s disease.

 What are the symptoms of Gaucher’s disease?

 The most common symptoms of Gaucher’s disease are anaemia, nose bleeds, easy bruising, fatigue, enlarged liver and spleen causing abdominal distension, bone pains, easy fracturing of bones and osteoporosis.
 Neurological symptoms include difficulty in starting fast eye movements (ocular motor apraxia), seizures, difficulty in swallowing, mental retardation and incoordination.
 The disease may be mild and present in late adulthood, or severe and present in the first year of life.

 What are the different forms of Gaucher’s disease?

There are three types of Gaucher’s disease – Type I, II and III. Type II and III in addition to liver, spleen and bone complications will have neurological complications as well.  Type II is the most severe form and is usually fatal by first year of life

 How is Gaucher’s disease diagnosed?

•   Blood tests measuring Beta-glucerebrosidase enzyme activity in leucocytes.  Enzyme assay can also be done on skin biopsy (fibroblasts).

•   DNA analysis for common mutations can be done especially to determine the long term prognosis of the disease and in doubtful cases (not as a routine)
•   Bone marrow aspiration and splenectomy were done in the past for diagnosing the disease, and are no longer recommended for diagnosis.

Can Gaucher’s disease be diagnosed in pregnancy?

Prenatal diagnosis is available, and a pregnant woman who has had a previous child with Gaucher’s disease can get herself tested to see if the fetus is affected by the same disease.

 How is Gaucher’s disease treated?

1. Enzyme replacement Therapy (ERT), where the deficient enzyme (imigliucerase) modified form is given as an infusion over two hours every 15 days. This is most effective in reducing the liver and spleen size and the bone symptoms, and improving blood counts. It is not very effective in improving neurological symptoms.
2. Oral drugs like Miglustat and Eliglustate Tartarate (known as Substrate Reduction Therapy) are used for milder disease, and as maintenance therapy. 
3. Bone marrow transplant was initially used prior to availability of drug therapy and is now not recommended for the treatment of Gaucher’s disease patients.

 We await future research in Gene Therapy to cure the disease. As of today, the treatment is lifelong until gene therapy becomes feasible
 

Centres offering treatment for Gaucher’s disease in India:

 
 Gaucher’s disease in India:
Until almost a decade ago, Gaucher’s disease was almost unheard off and the few stray cases which were being reported were of patients in whom the massive spleens were removed without a diagnosis being made. On examining these spleens under the microscope, the disease would get diagnosed. Other patients were diagnosed on bone marrow examination though this was not very specific as the storage disorders may mimic Gaucher’s cells.
Diagnostic facilities then became available in the form of enzyme assay and now a definite diagnosis of Gaucher’s disease can be made. The INCAP (India Charitable Access Programme) made it possible for patients of Gaucher’s disease to get enzyme replacement therapy free of cost.
 

Important articles on Gaucher’s disease in India –

1. Indian Pediatr. 2011 Oct;48(10):779-84.
Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India.
Nagral A, Mewawalla P, Jagadeesh S, Kabra M, Phadke SR, Verma IC, Puri RD, Gupta N, Kishnani PS, Mistry PK.
http://www.ncbi.nlm.nih.gov/pubmed?term=Recombinant%20macrophage%20targeted%20enzyme%20replacement%20therapy%20for%20Gaucher%20disease%20in%20India
 
2. Indian Pediatr. 2012 Apr 10
Spectrum of Lysosomal Storage Disorders at a Medical Genetics Center in North India.
Verma PK, Ranganath P, Dalal AB, Phadke SR.
http://www.ncbi.nlm.nih.gov/pubmed?term=Spectrum%20of%20Lysosomal%20Storage%20Disorders%20at%20a%20Medical%20Genetics%20Center%20in%20North%20India