Gaucher's disease
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Introduction
Familial disorder resulting from glucocerebrosidase deficiency.
Epidemiology
- gene frequency in Ashkenazi Jews is ~6.8%
- incidence 1/850 in Ashkenazi Jews[4]
- considered rare
Pathology
- glucocerebrosidase deficiency
- deposition of glucosylceramides in monocytes & macrophages
- accumlation of glucosylceramide-laden macrophages (Gaucher cells) in spleen, liver, bone marrow & brain
- inflammatory features[4]
Genetics
- autosomal recessive
- defects in PSAP saposin C region are a cause of Gaucher disease variant
Clinical manifestations
- abdominal distention with hepatosplenomegaly
- painful bone lesions
- erosion of long bones & the pelvis
- brown pigmentation of conjunctiva
- brown to yellow skin
- mental retardation in infantile form only
- abnormal eye movement associated with neuronopathic forms (types 2,3)
Laboratory
- complete blood count (CBC)
- enzyme deficiency of cultured leukocytes or fibroblasts
- bone marrow biopsy: Gaucher cells
- carrier status must be determined by RT-PCR*
- see ARUP consult[5]
* reverse transcriptase polymerase chain reaction
Radiology
- localized thinning of bony cortex
- erosion & compression of femoral head
Complications
- aseptic necrosis of the femoral head
- vertebral collapse
- increased frequency of multiple myeloma
Management
- alglucerase (Ceredase), enzyme replacement (expensive)
- may reduce hepatosplenomegaly
- may improve hematopoietic function
- generally reserved for patients with severe disease
- substrate reduction therapy (Zavesca)
- hemisplenectomy
- allogeneic bone marrow transplantation
More general terms
More specific terms
- Gaucher's disease type 1 (juvenile)
- Gaucher's disease type 2 (infantile)
- Gaucher's disease type 3 (juvenile & adult)
Additional terms
References
- ↑ Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 451
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998
- ↑ 4.0 4.1 4.2 Zimmerman, Ari
- ↑ 5.0 5.1 ARUP Consult: Gaucher Disease https://arupconsult.com/ati/gaucher-disease
ARUP Consult: Jewish Genetic Disease The Physician's Guide to Laboratory Test Selection & Interpretation
Ashkenazi Jewish Genetic Diseases Carrier Screening Algorithm https://arupconsult.com/algorithm/jewish-genetic-diseases-carrier-screening-algorithm
Ashkenazi Jewish Genetic Diseases Panel https://arupconsult.com/ati/ashkenazi-jewish-genetic-diseases-panel
Patient information
Gaucher's disease patient information