Gaucher Disease

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

What causes Gaucher disease?

All of the types of Gaucher disease are caused by a deficiency of the enzyme glucocerebrosidase, leading to an abnormal buildup of fatty substances, glycolipids, in the body cells. Mutations in the gene known as GBA1 are the cause of the deficient enzyme, and over 300 different GBA1 mutations have been identified in people with Gaucher disease. The mutations are inherited (passed from parent to offspring) in an autosomal recessive manner (see above). The four most common mutations of GBA1 gene are N370S, L444P, 84gg and IVS2[+1]. DNA analysis for these 4 mutations can detect 90%-95% of the mutations associated with Gaucher Disease in the Ashkenazi Jewish population, and 50%-75% of the associated mutations in the general population.

Which specialties of doctors treat Gaucher disease?

Patients with Gaucher disease may be treated by a number of different medical specialists, depending on the type of the disease and the specific symptoms and signs of the condition they experience. These may include pediatricians, neonatologists, internists, geneticists, neurologists, orthopedists, critical care specialists, cardiologists, and hematologists. Most patients who are treated with enzyme replacement therapy will have their treatment plan managed by a geneticist and/or hematologist.

Is there a test to diagnose Gaucher disease?

A blood test is used to make the diagnosis of Gaucher disease. The enzyme assay test measures activity of the glucocerebrosidase enzyme in certain white blood cells. Having less than 15% of normal enzyme activity is diagnostic for Gaucher disease. Genetic analysis is also done to establish the specific type of mutations in the GBA1 gene.

What is the treatment for Gaucher disease?

There is no cure for Gaucher disease, but medical treatments are available. Enzyme replacement therapy (ERT) is the primary form of treatment for people with type 1 and Gaucher disease and for the non-neurologic symptoms of type 3 Gaucher disease. The drug is given intravenously, generally at 2-week intervals. There are three ERT drugs available, imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso).

Other medications available to treat Gaucher disease include drugs that block the production of the sphingolipids that accumulate in cells and cause symptoms. These drugs are known as glucosylceramide synthase inhibitors and are taken by mouth. Two drugs in this class are miglustat (Zavesca) and eliglustat (Cerdelga).

Formerly, the condition was often treated by surgical removal of the spleen (splenectomy). However, this is typically not necessary given the availability of ERT.

Medically Reviewed by a Doctor on 7/5/2016

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