An enzyme deficiency
Gaucher Disease is one of the most common lysosomal storage disorders (LSDs). A person with LSD lacks specific enzymes that break down certain lipids (fats) or carbohydrates (sugars) in the body cells.
AN estimated 1 in 50,000 to 1 in 100,000 individuals in the general population may be down with Gaucher Disease, one of the 63 rare diseases accounted for locally by the Philippine Society for Orphan Disorders ( PSOD), a nonstock, nonprofit organization that ensures the sustainability of medical and financial support of patients with rare disorders.
Gaucher Disease is one of the most common lysosomal storage disorders ( LSDs). A person with LSD lacks specific enzymes that break down certain lipids (fats) or carbohydrates (sugars) in the body cells. With the disease, patients suffer from a deficiency of glucocerebrosidase, an enzyme that breaks down a particular type of fat cell. This deficiency leads to the accumulation of fatty materials ( lipids) in the brain, liver, spleen, bone marrow, and other parts of the body which causes the dysfunction of these organs.
The disease, according to the US National Institutes of Health’s MedlinePlus Web site, can be inherited as autosomal recessive trait, which means both the mother and father must pass one abnormal copy of the disease gene to their child in order for the child to develop the disease.
The National Gaucher Foundation ( NGF), a US independent nonprofit organization that serves Gaucher Disease patients and their families, stated on its Web site that although the symptoms of the disease vary from person to person, the common symptoms are enlargement of the spleen and/or liver, low platelet count and low levels of red blood cells which could lead to anemia, bleeding and clotting, fatigue, bone pain, arthritis and joint pain, and osteoporosis.
There has been three identified forms of this disease — Types 1, 2 and 3. The Gaucher Disease Type 1 is the most common type which affects both children and adults. People with this type bruise easily due to low platelet counts and experience bleeding like nosebleeds or gum bleeding. They also have swollen bellies due to an enlarged spleen or liver, and skeletal disorders or severe bone pains.
Symptoms of Gaucher Disease Type 2, also called acute infantile neuronopathic Gaucher Disease, become apparent within the first three to six months of life. This form involves severe neurological problems and is fatal, causing death before two years of age, according to the NGF. Signs include seizures, poor development, jerking movements, poor ability to suck and swallow, and an enlarged spleen or liver.
Meanwhile, people with Gaucher Disease Type 3 (or chronic neuronopathic Gaucher Disease) have similar symptoms with that of Type 2. They can also show signs of eye movement disorders, and cognitive and respiratory problems, among others, as described at the NGF Web site. Symptoms of this type usually show up later and take longer to get worse which is why patients have a higher chance of surviving into adulthood.
Treatment for Gaucher Disease Types 1 and 3 is Enzyme Replacement Therapy ( ERT) given every two weeks through intravenous infusions. This therapy was approved by the US Food and Drug Administration in 1991. It can minimize the symptoms of the disease and prevent damage to the body. Three FDA-approved drugs are available for this treatment: Imiglucerase (Cerezyme), Velaglucerase alfa ( VPRIV) and Taliglucerase alfa ( Elelyso).
Another treatment is the Substrate Reduction Therapy drugs which is taken orally but the NGF said these drugs are only prescribed in certain patients and are not approved for children and pregnant or breastfeeding patients.
Although the national government, through the Department of Health, has been doing its part to accommodate patients with rare diseases, currently, the Rare Disease Medicines Access Program ( RDMAP) focuses on children with Gaucher Disease Types 1 and 3 as beneficiaries. The RDMAP will give free ERT infusion provided that patients passed a standard screening process and are referred to by the IHG.
As of August 2011, there have been f ive patients aff licted with Gaucher Disease in the Philippines, as reported on the PSOD registry. —