Gaucher disease is a hereditary condition that causes fat deposits to form in certain organs and bones.
People that have this condition do not have enough of the enzyme called glucocerebrosidase, which is the enzyme responsible for digesting food. A lack of this enzyme causes certain cells to not function properly. This leads to the accumulation of fatty substances in the spleen, liver, lungs, bones and sometimes the brain.
Some of the symptoms of this disease include anemia, fatigue, a low platelet count, hematomas, an enlarged spleen or liver, blood clotting problems, and bone pain along with a fever. This disease is categorized into three types: type 1, 2 and 3. Types 2 and 3 have a more serious effect on the body and brain.
For some people, the discomfort, pain and disability that this disease causes can have a serious impact on the person’s quality of life. With an early diagnosis and proper treatment, patients can prevent suffering from severe symptoms.
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