Abstract :
Gaucher disease (GD) is a rare autosomal recessive disorder that results from a deficiency in β-glucosidase (GBA) activity due to a GBA gene mutation. GBA hydrolyzes glucocerebrosides into glucose. Deficiency of this enzyme causes accumulation of glucocerebrosides in cells and tissues. Gaucher cell infiltration into the interstitial tissue can be asymptomatic or can cause mild signs and symptoms, such as wheezing and cough. Progressive disease involves Gaucher cells filling the alveolar spaces, causing dyspnea, frequent infections, pneumonia, and exercise intolerance. We report severe pulmonary hypertension in a 41-year Libyan female patient with type 1 GD who was diagnosed at 17 years of age, responding to enzyme replacement therapy.
Keyword :
Gaucher disease, Pulmonary HTN, Immunoglobulin deficiency