Gaucher disease
Gaucher disease is an autosomal recessive lysosomal storage disease caused by a deficiency or decreased activity of acid β-glucosidase (GBA-1) that results in the accumulation of its substrate glucocerebroside (GL-1). The accumulation of GL-1 in the lysosomes of macrophages leads to progressive hepatosplenomegaly, hematological abnormalities such as anemia and thrombocytopenia, bone disease and other manifestations.
Gaucher disease is a pan-ethnic disease with an overall incidence of 1/40 000 -1/60 000 but can reach up to 1/450 in Ashkenazi Jewish populations.1-3
Increased bleeding tendency, tiredness, splenomegalie and enlarged liver. These are common symptoms of Gaucher disease. Watch the video below to learn more about the symptoms of Gaucher disease, and the mechanism of this rare lysosomal storage disease, which can result in progressive multi-organ dysfunction.1
Symptoms5
- Hepatosplenomegaly
- Bone pain, bone crisis
- Anemia, thrombocytopenia
- Fatigue
- Erlenmeyer flask deformity
- Osteopenia, pathological fractures
- Bone marrow infiltration by Gaucher cells
- Avascular necrosis
- Growth retardation, delayed puberty
Sibling testing
Test the patient, test the siblings as early as possible: if both parents are a carrier of the disease, each child has a 25% risk of being affected by the disease.2,3
Juha - patient story - Will you recognize the symptoms?
Follow Juha in his journey to diagnosis. Watch the video below
References
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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
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Kaplan P, Kaplan P, Baris H et al. Revised recommendations for the management of Gaucher disease in children. European journal of pediatrics 172.4 (2013): 447-458
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Mistry PK, Sadan S, Yang R et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol 2007;82:697–701.
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Weinreb NJ, Deegan P, Kacena KA et al. Life expectancy in Gaucher disease type 1. Am J Hematol 2008;83:896.
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Grabowski GA, Petsko GA, Kolodny EH. Gaucher Disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. eds. New York, NY: McGraw-Hill; 2014. http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62643884. Accessed Fabruary 2024.