Recognizing the Major Presenting Signs and Symptoms of Gaucher Disease
Because Gaucher disease type 1 is the most prevalent of the three subtypes, our discussion of presenting clinical manifestations 1,2,3 at diagnosis will center around those that typify type 1.
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In general, the manifestations of type 1 Gaucher disease decrease a patient's quality of life and functional health, and include:
- Hematological manifestations (as a result of splenic and hepatic involvement), specifically anemia, leukocytopenia, bruising, bleeding, and moderate to severe thrombocytopenia.
- Skeletal manifestations of Gaucher disease are common, yet unappreciated for their debilitating effects and impact on quality of life. Clinical and/or radiographic evidence of bone disease occurs in 83% of patients with type 1 Gaucher disease (the most common form of the disease). Bone disease, with painful and debilitating skeletal manifestations, includes pathologic fractures and collapsed vertebrae, bone thinning, osteopenia, bone pain, bone crises, and irreversible osteonecrosis. Optimal assessment and monitoring require a multi-modality approach, using not only general assessments such as plain X-ray, but also more sensitive methods such as MRI (magnetic resonance imaging) and DXA (dual energy X-ray absorptiometry). By detecting bone changes and intervening early, physicians have the opportunity to optimally manage the most debilitating aspect of Gaucher disease.
- Hepatomegaly, with possible progression to fibrosis, cirrhosis, jaundice, or chronic hepatitis and, in rare, late-stage cases, hepatic decomposition.
- Splenomegaly, with potential for extremely painful splenic infarcts.
- Fatigue, due to anemia and metabolic complications of impaired energy metabolism.
- Greater susceptibility to infection, likely caused by the impaired monocyte and macrophage responses to pathogens.
- Delayed skeletal growth and delayed skeletal maturation in pediatric patients.
- Pulmonary involvement is a rare manifestation in Gaucher disease, but can present as pulmonary hypertension, hypoxia, and reduced pulmonary function.
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- Beutler E, Grabowski G. Gaucher disease. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. p. 3635-3668.
- Charrow J, Andersson H, Kaplan P, Kolodny E, Mistry P, Pastores G, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;160:2835-43.