Gaucher disease is the result of a deficiency of a lysosomal enzyme, glucocerebrosidase, which causes the accumulation of its substrate, glucosylceramide, in macrophages. Bone involvement, (hepato)splenomegaly, bleeding diathesis, thrombocytopenia, increased ferritin levels, and immunoglobulin abnormalities, such as monoclonal gammopathy or hypergammaglobulinemia, are all clinical or biological signs that should prompt a diagnosis of Gaucher disease. Type 1, the most common form, is responsible for visceral damage, while Types 2 and 3 are responsible for neurological disorders. The diagnosis, which is facilitated by using algorithms, is based on the confirmation of the enzyme deficiency and search for the causal mutation. Treatment involves the intravenous administration of the deficient enzyme, such as miglucerase, velaglucerase, or taliglucerase) or the use of oral molecules that inhibit the biosynthesis of glycosylceramide like miglustat or eliglustat.
Key Words
Gaucher disease, clinical and biological manifestations, replacement therapy, substrate reduction therapy
What is already known about the topic?
Gaucher disease is a lysosomal storage disease, whose most common clinical manifestations include unexplained splenomegaly and thrombocytopenia. Many other manifestations exist, but they vary from one individual to another. The diagnosis is confirmed by measuring the β-glucocerebrosidase activity in nucleated cells. The first-line treatment consists of enzyme substitution. Splenectomy should be avoided as it aggravates several disease manifestations.
What does this article bring up for us?
This article summarizes what is currently known about Gaucher disease and is meant to raise awareness within the medical community of this relatively unknown disease. The article also summarizes the results of a retrospective study evaluating the experience in managing this disease at the Cliniques universitaires Saint-Luc.