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Gaucher disease type 1 - External and Internal Eye
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Gaucher disease type 1 - External and Internal Eye

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Contributors: Brandon D. Ayres MD, Christopher Rapuano MD, Harvey A. Brown MD, Sunir J. Garg MD, Lauren Patty Daskivich MD, MSHS
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Synopsis

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.

For more information, see OMIM.

Related topic: Gaucher Disease Type 2

Codes

ICD10CM:
E75.22 – Gaucher disease

SNOMEDCT:
190794006 – Gaucher disease

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Bone marrow aspiration is not a good distinguishing test, as pseudo-Gaucher cells (glycolipid-laden macrophages) are seen in many other disorders.

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 03/29/2017
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Gaucher disease type 1 - External and Internal Eye
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Gaucher disease type 1 : Fatigue, Hepatosplenomegaly, Bone pain, Osteopenia, Ecchymosis, Epistaxis, Anemia, PLT decreased
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