Understanding Gaucher

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The purpose of this site is to provide a comprehensive introduction to Gaucher disease, outlining what it is, how it occurs and the typical signs and symptoms associated with the condition.

Information to aid in the referral of patients with a positive diagnosis of Gaucher disease has also been included. The site, however, is not intended for diagnostic purposes, and all diagnoses should be conducted by an appropriate healthcare professional.

Overview of Gaucher Disease

Gaucher disease is a chronic, progressive disorder, associated with disability, reduced life expectancy, and in some cases, life‑threatening complications.1,2

Gaucher disease is a sphingolipidosis, in which the enzyme β-glucocerebrosidase is inadequate, absent, or dysfunctional, resulting in the accumulation of its substrate, glucocerebroside in macrophages.3 Lipid-filled macrophages, whose appearance is characterized by the nucleus pushed to one side, are called Gaucher cells.4 Gaucher cells displace normal cells in a number of affected organs impacting their normal function, including the spleen, liver, bones, bone marrow, occasionally the brain and nervous system, and, in rare cases, the lungs2,4

1. WEINREB, NJ. et al. Am J Hematol 2008; 83(12): 896–900.
2. GRABOWSKI, GA. Lancet 2008; 372: 1263–71
3. MEHTA A. Eur J Int Med. 2006; 17:S2–S5.
4. PENNELLI N, et al. Blood 1969; 34:331–47.

Confirming a Diagnosis of Gaucher Disease

Gaucher disease is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which results in accumulation of its main substrate, glucosylceramide and leads to cellular dysfunction.1

Glucocerebroside accumulates mainly in macrophages.2 These cells are found in the reticuloendothelial system, which includes the mononuclear phagocytic system, cells lining the sinusoids of the spleen, lymph nodes, and bone marrow, and the fibroblastic reticular cells of haematopoietic tissues.2 Gaucher disease has sometimes been referred to as a “reticuloendothelial disease” owing to the accumulation of glucocerebroside in macrophages of the reticuloendothelial system.

1. GRABOWSKI, GA.Lancet 2008; 372: 1263–71
2. PENNELLI N, et al. Blood 1969; 34:331–47.

Types 1, 2 & 3

There are three subtypes of Gaucher disease which are categorized by the presence or absence of neurologic involvement, and by the rate of disease progression and degree of severity.1-4

Type 1

the most common form, and is non-neuronopathic, accounting for >90% of all Gaucher disease patients.5

Type 2

an acute neuronopathic form with early onset and a rapid, degenerative course that results in death usually within the first 2 years of life.

Type 3

a chronic neuronopathic form with a less rapid course and milder symptoms than Type 2 that results in death in childhood to early adulthood

diagram_9 type123
1. SIDRANSKY, E. Mol Gen Met 2004; 83: 6−15.
2. GRABOWSKI, GA. Lancet 2008; 372: 1263–71
3. NAGRAL A. J Clin Exp Hepatol. 2014; 4:37–50.
4. HOPKIN RJ et al. (Chapter) Fauci AS et al. Harrison’s Principles of Internal Medicine.
5. MISTRY, P. et al. Am J Hematol 2011; 86(1): 110–5.

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