What is Gaucher’s Disease?
Gaucher’s disease (GD; pronounced as GO-SHEY) is a genetic disorder, in which a type offat known as glucocerebroside is accumulated invarious organs of the body. It occurs due todeficient activity of the enzyme glucocerebrosidase, which causes breakdown of glucocerebroside. There are three types of GD – Type I, II and III. Type II and III in addition to liver, spleen and bone complications will have neurological complications as well. Type I is the most common treatable form of the disease while type International Gaucher’s day is observed on July 26 th worldwide, to honour the birth of PhillipeGaucher, the French dermatologist who discovered this disease.II is the most severe form and is usually fatal by first year of life.
Worldwide, the occurrence of GD is 1/57,000 to 1/75,000 births. According to certain studies, the incidence of GD is the highest among all the lysosomal storage disorders (LSD) seen in India.
Signs and symptoms:?
People suffering from GD show typical sings such as: - Anaemia (low number of red blood cells [RBCs]) - Fatigue - Increased size of the liver and spleen (hepatosplenomegaly) - Easy bruising caused, in part, by a low level of platelets (thrombocytopenia) and bone disease (bone pain and fractures) - Neurological symptoms such as mental retardation, lack of coordination, difficulty in swallowing etc.Genetics and risk in the family:?
GD is generally caused by a genetic mutation received from both parents (autosomal recessive inheritance), which leads to accumulation of the enzyme’s substrate glucocerebroside. It is caused by a recessive mutation in the gene GBA. An autosomal recessive disease, GD affects males and females alike. Both parents need to be carriers (or have the disease) for the child to have GD. This is more likely if the parents get married within a family. If both parents are carriers, there is a 25% chance that the child will be normal, or 50% chance that child will be carrier but not have disease, and 25% chance that the child will have GD.
The diagnosis of GD is based on clinical symptoms and laboratory testing. A diagnosis of GD is suspected in individuals who have bone problems, enlarged liver and spleen (hepatosplenomegaly), changes in RBC levels, easy bleeding and bruising from low RBCs or signs of nervous system problems. The following tests may be done: • Blood test to look for Beta-Glucosidase enzyme activity • Magnetic resonance imaging scan (MRI) • Computed topography scan (CT) • X-ray of your skeleton • Genetic testing for mutation study of GBA gene
Enzyme replacement therapy (ERT) is effective intreating individuals with symptoms of GD, which helps in stopping its progression. It involves injecting a modified form of the enzyme, glucocerbrosidase, by intravenous infusion once in 2 weeks. Other treatments that have been required include: removal of the spleen (splenectomy), blood transfusions, pain medications, and joint replacement surgery.
Genetic counseling is recommended for prospective parents with a family history of GD. Testing can determine if the parents carry the gene that could pass on the GD. A prenatal test can also tell if a baby in the womb has GD. However, there is no known way to prevent GD.
Gaucher’s Disease: Children’s Liver Foundation. Last accessed in April 2016. Available online at: http://childrenliverindia.org/node/21 2 Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K, et al. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep. 2014;12:51-63. 3 Learning About Gaucher Disease: National Human Genome Research Institute. Available online at: https://www.genome.gov/25521505/learning-about- gaucher-disease/. Last accessed in April 2016.
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Dr Jayesh Sheth
FRIGE’s Institute of Human Genetics