Gaucher disease is a fairly common recessive lysosomal storage disorder in which the lipid glucocerebroside accumulates (primarily in the spleen, liver, bone marrow, and lymph nodes) due to a deficiency of the enzyme β-glucosidase. Type 1 (GD1) is the most common of the 3 subtypes and lacks the central nervous system involvement found in the other 2 types. GD1 appears more often in those of Ashkenazi Jewish heritage (where the gene carrier frequency is estimated at 1 in 15). Features of disease range from mild to severe and may occur either early or late in life. The onset and progression of disease are slow. Many have only mild disease and never present for therapy.
Patients with Gaucher disease have an increased risk of myeloma.
Hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and skeletal changes are found. Cutaneous signs are infrequent and nonspecific. Brown spots at the edge of the cornea are sometimes found.