Gaucher disease is the most prevalent lysosomal glycolipid storage disorder, and is caused by an acid beta galactosidase deficiency. The disease was first described by Philippe Charles Ernest Gaucher, a French physician, in 1882. His patient was a 32-year old woman with an enlarged spleen and liver. Gaucher disease is a rare genetic disease found among Jewish individuals of Ashkenazic (Eastern European) descent, with a carrier rate of approximately 1 in 14; approximately 1 in 450 are afflicted. So although rare, it is quite common among this group. Among the general population the carrier rate is about 1 in 50,000 to 1 in 100,000.
While there are at least 34 different genetic mutations known to cause Gaucher disease, 4 of these mutations account for roughly 95% of the known cases amongst Ashkenazi Jews afflicted with the disorder.
Gaucher disease is an autosomal recessive disorder which means that both parents must be carriers for a child to be afflicted. If both parents are carriers the chance of having a child with the condition is 25% each pregnancy.
How are People Affected by Gaucher Disease?
Gaucher disease symptoms range from mild to severe, are a result of the accumulation of a fatty substance (lipid) called glucocerebroside in bone marrow cells. Glucocerebroside may also accumulate in the spleen, liver, kidneys, lungs, and brain. This accumulation interferes with normal bone marrow functions such as the accumulation of platelets and red blood cells. The most common symptoms include an enlarged spleen, an enlarged liver, frequent nosebleeds, anemia, poor blood clotting, and a reduced blood platelet count. Other symptoms include a swollen abdomen, discolored skin, thrombocytopenia, osteoporosis, bone pain and bone lesions, spontaneous fractures, and damage to the hip and/or shoulder joints. Older individuals with Gaucher disease are also at increased risk of multiple myeloma.
Treatment and Prognosis
To reduce spleen and liver size, patients with Gaucher disease can undergo enzyme replacement treatment with intravenous recombinant glucocerebrosidase. This treatment has also been successful in reducing skeletal abnormalities. A second form of treatment is bone marrow transplantation, although this carries more risk and is generally not performed on individuals with Gaucher. Depending on the type and severity of symptoms, other treatments include blood transfusions (for Gaucher patients with anemia), splenectomy (to remove spleens enlarged to the point of causing discomfort), antibiotics, liver transplants, bisphosphonates for bone lesions, and antiepileptics. More recently, drugs such as Cerezyme and Miglustat have also been used to treat Gaucher disease.
This post is part of the series: The Ashkenazi Jewish Genetics Panel
This series describes the diseases tested for in the Ashkenazi Jewish Genetics Panel (AJGP).