Gaucher’s disease is a rare genetic disorder which results in insufficiency or absence of glucocerebrozidase enzyme. This enzyme is involved in degradation of compound lipids called cerebrosides. Patients with Gaucher’s disease suffer from storage of unmetabolized cerebrosides in different organs and tissues which causes their dysfunction.
There are three main types of Gaucher’s disease:
Type 1 (nonneuropathic) – the most frequent one with variable symptoms and progression.
Type 2 (acute neuropathic) – acute, severe form, which manifests with CNS disorders of infants and toddlers.
Type 3 (chronic neuropathic) – chronic form, which causes damage progressive damage of CNS.
Gaucher’s disease causes variable symptomatic and can manifest with severe symptoms in infancy or by mild symptoms which develops in adulthood and frequently results in late diagnosis.
Patients complain about fast fatigability, reporting difficulty performing routine daily activities. Easy bruising is one of frequent complaints.
The most frequent clinical symptoms of type 1 Gaucher’s disease are:
- Bone pain
- Easy bruising
- Enlarged liver and spleen
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