Gaucher Disease

What is Gaucher Disease?Gaucher disease is a rare disorder that is caused due to a defect in your gene, GBA1. It is an inherited condition and results in excessive accumulation of glycolipids in the spleen, lungs, liver, bones, and sometimes in the brain too. Due to the buildup of these fatty substances, the organs do not function properly and also causes many symptoms. The types of Gaucher disease are:

  • Type 1: It is the most common form of the disease with treatments available.
  • Type 2: It affects the spinal cord and the brain of babies and they do not live for more than a few years.
  • Type 3: Appears later in childhood and affects the brain and spinal cord.

Gaucher Disease SymptomsThe common symptoms of Gaucher disease are:

  • Easy bruising due to low platelet count
  • Difficulty stopping bleeds
  • Anaemia due to low RBC count
  • Tiredness due to anaemia
  • Enlarged liver and spleen
  • Brittle bones
  • Bone pain and bruises that is accompanied by fever

People who have Type 1 Gaucher disease do not notice any pain initially. But when it gets severe, it causes delayed development in a child. Type 2 is fatal as the child usually dies by age 2. Type 3 affects the spinal cord and damages the brain and appears later in childhood. Those with type 3 can live longer up t 30 or 40 years of age but will need assistance for their daily activities.Who is at Risk?Gaucher disease is an inherited condition and hence genetic in nature. That means the Gaucher disease risk factors is high in:

  • People whose parents carry a defective gene to get affected. But despite both parents having this gene, there is a 50% chance that you carry the gene and not have the disease. There is a 25% chance that you are not a carrier and not have the disease and there is a 25% of having this disease.
  • The chances of having this disease are high in families that are in Lithuania, Ukraine, and Poland.
  • 1 out of 10 Jewish people coming from the above countries is highly likely to get it.

Gaucher Disease Causes

  • All 3 types of Gaucher disease are caused due to the deficiency of glucocerebrosidase which is an enzyme.
  • The enzyme deficiency is due to the gene mutation of GBA1 which is inherited in a recessive manner.
  • Humans have two copies of this gene for the production of this enzyme. If both copies do not work properly then there is a 25% chance of getting this disease.
  • The lack of this enzyme leads to an excessive buildup of fatty substances called glycolipids in the cells.

How is Gaucher Disease Diagnosed?If the symptoms and even family history point to this inherited condition then the doctor will refer to a genetic specialist:

  • As part of the Gaucher disease diagnosis, Genetic testing is done to look for gene mutations. Those with a family history of the condition can undergo genetic testing to know the chances of the child having Gaucher’s disease. Since this test does not produce reliable results as there are many gene mutations that cause this disease, an enzyme test is done in combination to diagnose this condition.
  • Blood tests are conducted to test the levels of glucocerebrosidase.
  • Prenatal screening is done if a woman has a faulty gene. The amniotic fluid is checked along with the CVS test of the placenta.

How is Gaucher Disease Treated?There is no complete Gaucher disease cure but treatment helps to relieve symptoms and increase the quality of life. People with type 2 and severe brain damage have no treatment that is effective. For type 1 or 3 there are many Gaucher disease treatment options like:

  • Enzyme replacement therapy: The deficient glucocerebrosidase is replaced. It helps in preventing liver and spleen enlargement. It also helps in improving the platelet count and bone density.
  • Substrate reduction therapy, SRT: Helps to reduce the buildup of a fatty substance. There are many Gaucher disease emedicine which can be taken as prescription medication with mild symptoms.
  • Bone marrow transplant: Replaces bone marrow that has been damaged.

If you suspect Gaucher disease, contact our team of specialists at Cure.fit and consult our orthopedic doctor’s to treat all symptoms including bone pain. How can Gaucher Disease be Prevented?

  • If you have a family history of Gaucher disease, it is essential to talk to a genetic counsellor to know if you run the risk of having this disease. The genetic counsellor will also help you understand the chances of passing this inherited condition to your children.
  • Genetic testing of the fetus is a way to know if a carrier has passed on the condition.
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