Gaucher disease is a rare inherited metabolic disorder in which the body cannot break down certain fatty substances effectively. As a result, these substances accumulate in organs such as the spleen, liver and bone marrow, leading to a wide range of symptoms that vary from person to person.

People living with Gaucher disease may experience fatigue, enlarged spleen or liver, bone pain, fractures, anaemia and low platelet counts. Some forms of the disease can also affect the nervous system. Because the symptoms often resemble those of more common conditions, diagnosis may be delayed for many years.