Gaucher disease is a genetic disorder caused by mutations in the GBA gene, which carries instructions necessary to make the enzyme beta-glucocerebrosidase. The normal function of this enzyme is to break down a fatty molecule called glucocerebroside. In Gaucher disease, the body is unable to break down glucocerebroside due to insufficient levels of the enzyme. As a result, glucocerebroside builds up in multiple organs and bones causing various disease symptoms.
In Gaucher disease, glucocerebroside primarily accumulates in the spleen and liver, causing swelling or hepatosplenomegaly. This swelling also can cause painful extension of the abdomen.
When glucocerebroside builds upon the heart valves, as seen in the cardiovascular form of Gaucher disease, it results in the hardening of the blood vessels causing problems in blood flow.
Glucocerebroside also can accumulate in the lungs, causing respiratory problems such as breathing.
Patients with Gaucher disease have low platelet count, or thrombocytopenia, which can cause bleeding issues such as gum and nose bleeds and result in frequent bruising. Since blood cannot clot properly when the platelet count is low, Gaucher disease patients may be prone to serious bleeding problems.
Gaucher disease also can affect the production of red blood cells by the bone marrow, causing anemia. Red blood cells are responsible for supplying oxygen to the various organs. Due to reduced levels of red blood cells, enough oxygen does not circulate through the organs, lowering energy levels and causing patients to tire quickly. Thus, fatigue is common in patients with Gaucher disease.
In types 2 and 3 of Gaucher disease, when there is involvement of the central nervous system, patients exhibit symptoms such as:
- cognitive problems
- coordination difficulty
The buildup of glucocerebroside in the bones can interfere with patients’ development and function, causing symptoms like:
- osteopenia, or bone weakness
- osteoporosis, or porous bones
- loss of calcium and minerals from the bones, making them brittle
- spontaneous fractures
- skeletal abnormalities
- bone pain
- osteonecrosis, or bone infarction, in which there is bone death due to reduced supply of red blood cells
- joint pain and damage such as arthritis.
Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.