World Gaucher Disease Day

Gaucher disease is a rare disease named after Phillipe Gaucher, who described it in 1882. It is caused by the absence of an enzyme whose function is to eliminate a certain type of fat from various organs; this lack causes an accumulation of lipids in cells of the liver, arms and bones (bone marrow). According to the NGO Esperantra, it is estimated that one out of every 100,000 people in the world could suffer from this disease, that is, about 30,000 people worldwide.

On July 26th is commemorated the World Gaucher Disease Day, characterized by a genetic disorder that has no cure, but is controllable with the purpose of this date is to sensitize the population about this pathology.

Since 2014, every October 1 is celebrated the International Gaucher Disease Day. This date was chosen to commemorate the birth of the French physician Philippe Charles Ernest Gaucher (1854-1918), who described this pathology in 1882. The main objective of this day is to promote research, awareness and to improve diagnosis and treatment, promoting information and knowledge of this disease.

This disorder, which occurs more frequently in women, is transmitted hereditarily from parents to children, that is to say, if one of the parents is a carrier of the disease, there is a 50% chance that their child will suffer from the disease. If both parents are carriers of the disease, all children will develop the disease.

The most common symptoms of the disease are: fatigue, bone pain, tendency to develop bruising, bleeding, as well as enlargement of the liver and spleen.