Gaucher disease is an inherited lysosomal storage disorder.[1,2] In Gaucher disease, a deficiency of the enzyme glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte-macrophage system.[1]
Gaucher cells
Lipid-engorged cells with eccentric nuclei, known as Gaucher cells, accumulate and displace healthy normal cells in bone marrow and visceral organs, causing a host of signs, including skeletal deterioration, anemia, hepatosplenomegaly, and organ dysfunction. In rare cases Gaucher cells affect the brain and nervous system.[4]
Images of Gaucher cell (top) and a normal cell (bottom)
Disease history
Gaucher disease was first described in 1882 by French physician Philippe Charles Ernest Gaucher after he evaluated the corpse of a 32-year-old woman with an enlarged spleen (one of the disorder’s distinguishing signs).[3]
French physician Philippe Charles Ernest Gaucher
Gaucher disease classification
Gaucher disease is a panethnic disorder. It has been divided into three types based on the presence and severity of neurological involvement:
Type 1 (non-neuronopathic)
The most common type, it afflicts both children and adults. This type is more prevalent in people of Ashkenazi Jewish ancestry.[3]
Type 2 (acute neuronopathic) and Type 3 (chronic neuronopathic)
These less common forms of the disease are characterized by central nervous system involvement. Type 2 patients rarely survive to age 2. Type 3 is characterized by a variable course and is marked by slowly progressive neurological involvement.[5]
Gaucher disease’s approximate frequency, onset, and course by type [3,5,6,7]
In Genetics, you can learn more about the inheritance of this autosomal recessive disorder.
Go to Disease Progression to read about the consequences of untreated disease.
Go to Signs and Symptoms to learn about the wide-ranging effects of Gaucher disease.
References
1. Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:2835-2843.
2. NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease: current issues in diagnosis and treatment. JAMA. 1996;275:548-553.
3. Morales LE. Gaucher’s disease: a review. Ann Pharmacother. 1996;30:381-388.
4. Brady RO, Barton NW, Grabowski GA. The role of neurogenetics in Gaucher disease. Arch Neurol. 1993;50:1212-1224.
5. Grabowski GA. Lysosomal storage diseases. In: Braunwald E, Fauci AS, eds. Harrison’s Principles of Internal Medicine. 15th ed. New York, NY: McGraw-Hill; 2001:2276-2281.
6. Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet. 1991;49:855-859.
7. Beutler E, Grabowski G. Gaucher disease. In:Scriber CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995;2:2641-2661.
Did You Know...
Cerezyme (imiglucerase for injection) is the first preparation of glucocerebrosidase, the enzyme deficient in Gaucher disease, produced using recombinant DNA technology.
Genzyme Corporate
Gaucher disease was first described in 1882 by French physician Philippe Charles Ernest Gaucher after he evaluated the corpse of a 32-year-old woman with an enlarged spleen (one of the disorder’s distinguishing signs).
