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Gaucher’s disease — diagnosis and therapy

Continuing our series of clinical articles in the run-up to Rare Disease Day later this month, Dr Peter O’Gorman of the Mater Hospital examines the different types of Gaucher’s disease and the treatment options available for patients. Gaucher’s disease (GD) is one of the most common of known inherited metabolic lipid storage disorders (Gaucher’s Association UK, 2012). In GD, through glucocerebrosidase enzyme deficiency, excessive lipid levels can build in the liver, spleen, lungs, bone marrow and with less frequency in the brain. Severity can vary between individuals and depending on GD type, but for many patients if left untreated, GD…