With Gaucher’s Disease, fatty substances (sphingolipids) accumulate in cells and certain organs. In some cases, people may not know they have it because they have no overt problems. This is a frightening fact, considering Gaucher’s Disease can lead to severe disability and death.
While there are those who show no outward signs of the condition, the common symptoms of Gaucher’s disease are anemia, fatigue, nosebleeds, osteoporosis, bone pain and easily broken bones. Other signs include a swollen stomach due to the enlargement of the liver and spleen and bone infarctions, which often lead to damage to the shoulder or hip joints. The spleen, lungs, brain, metabolism and bone marrow can be affected.
If Gaucher’s disease is suspected, enzyme levels associated with the disease are checked. Individuals with the disease have very low levels of enzyme activity. An enzyme assay test measures glucocerebrosidase (GC) activity in leukocytes, fibroblasts or urine.
Ninety to 95 percent of mutations of the GC gene associated with Gaucher’s disease occur in the Ashkenazi Jewish population (one in 450 has this disorder) who hail from Eastern, Central and Northern Europe. But in the overall population, according to www.genome.gov, the incidence of the disease is between 1 in 50,000 to 1 in 100,00 individuals. It is named for Dr. Philippe Gaucher, a French dermatologist who treated a woman with an enlarged spleen and first diagnosed it in 1882.
There are various types of Gaucher’s disease, which causes fatty materials to accumulate where they shouldn’t in the spleen, liver, lungs, bone marrow and brain. Various treatments exist. The good news is that a blood test can diagnose the disease early in its progression. Carrier status can be detected with analysis of blood or saliva.