Gaucher Disease

Gaucher disease is a rare hereditary disorder in the group of storage diseases, in which the body does not properly break down a certain fatty substance, which then accumulates in organs and tissues.

Possible manifestations: depending on the form and the age of onset, it may include enlargement of the liver or spleen, tiredness, a tendency to bruise, pain or bone alterations, and, in some types, neurological involvement.

Why it happens: it is due to a genetic alteration that affects an enzyme responsible for processing that substance within the cells.

Who treats it: it usually requires a multidisciplinary approach that may involve the internist, the endocrinologist, and, when it begins in childhood, the pediatrician. If there is a family history or persistent signs such as an enlarged spleen, the advisable course is to see a professional who can guide the appropriate workup.