Have you heard of Gaucher disease? There are over 100 diagnosed cases in Portugal

Gaucher disease is a rare, chronic, and progressive genetic disorder caused by a lack of the glucocerebrosidase enzyme, leading to fat accumulation in cells. Diagnosis can be confirmed via a simple blood spot test, and treatment options—including enzyme replacement therapy performed in hospitals—are available for eligible patients to manage symptoms such as spleen and liver enlargement, anemia, and bone complications.