Medical Definition of Gaucher disease, types 2-5

  • Medical Author:
    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.

Gaucher disease, types 2-5: A series of diseases due to glucocerebrosidase deficiency and accumulation of glucocerebroside in cells. By comparison with type 1 Gaucher disease, these are far less frequent forms of Gaucher disease.

Types 2 and 3 Gaucher disease are characterized by primary neurologic disease including profound involvement of the brain. The onset of symptoms is before age 2 in both types 2 and 3 with death by age 2 to 4 in type 2 and a more slowly progressive course with survival into the third or fourth decade in type 3. Types 2 and 3 are collectively known as infantile cerebral Gaucher disease.

Type 4 Gaucher disease is lethal in the perinatal period and is marked by collodion skin and hydrops fetalis.

Type 5 is the cardiovascular form of Gaucher disease with calcification of the aortic and mitral valves, mild spleen enlargement, and eye involvement.

See the entries also to:

  • Gaucher disease
  • Gaucher disease, type 1

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Reviewed on 12/11/2018

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