Gaucher’s disease affects several parts of the body and the symptoms vary greatly among the affected individuals. This results from the accumulation of certain fatty substances in various organs of the body, particularly the spleen and the liver causing them to enlarge and affecting their normal function. This disease is estimated to affect 1 in 40,000 live births, although it appears to be common among the Jews of Ashkenazi descent. There are three types of gaucher disease that are distinguished by type 1, type 2 and type 3.
Causes
This disease occurs as the result of mutation in the gene GBA that is important for the production of an enzyme known as beta-glucocerebrosidase required for the break-down of fatty substance (glucocerebroside) into simpler molecule. The genetic mutation results in the deficient of this particular enzyme which causes the accumulation of the fatty substance to a toxic level within the body, particularly the spleen, liver and the bone marrow causing their dysfunction. Gaucher’s disease is inherited in an autosomal recessive pattern meaning both the copies of the gene in each cell from the parents are defective.
Symptoms
Some of the symptoms of this disease include spleen and liver enlargement, low platelet count, bleeding and clotting problems, anemia and fatigue. The bone problem of the affected individuals appear to be common and includes bone pain, spontaneous fractures, bone infarction when the bone tissues deteriorate, osteoporosis and osteopenia that affects the calcium and mineral level of the bones. The neurological symptoms seem to affect individuals with the type 2 or type 3 gaucher’s disease and can result in early death. Type 1 appears to be the most common type of this disease in the western countries. Type 2 is a rare and a serious condition that severely affects the brain stem and is untreatable as the result of the irreversible brain damage.
Diagnosis
The diagnosis is made when the individual is suspected of this condition and with the physical examination that checks the size of the liver and the spleen. The laboratory tests check for the level of the enzyme associated with this disease. Various imaging tests include dual energy X-ray absorptiometry that measures the bone density and an MRI to evaluate whether the spleen and the liver are enlarged. The prenatal testing can be considered particularly when the family history of this disease is prevalent or if the individual belongs to the Ashkenazi Jewish heritage. Genetic testing can also identify the mutation that is responsible for causing this condition.
Treatment
The type 1 and type 3 gaucher’s disease is treatable. However, individuals affected with the type 3 gaucher’s disease not exhibiting severe brain problems can be treated to reduce the symptoms. The enzyme replacement therapy is effective for the type 1 gaucher’s disease which is evident with the improved symptoms. The substrate reduction therapy is an oral medication that can limit the amount of glucocerebroside and thus reducing their accumulation in the body.
References
https://ghr.nlm.nih.gov/condition/gaucher-disease#inheritance
http://www.gaucherdisease.org/about-gaucher-disease/what-is/
http://www.mayoclinic.org/diseases-conditions/gauchers-disease/basics/tests-diagnosis/con-20031396
