Gaucher disease is an inherited disorder in the metabolism of fats.
In a person with Gaucher disease, a particular enzyme is missing. This enzyme is important in breaking down lipids, or fats, in the body. Because it is missing, a substance builds up in the body and causes damage to various organs. The most common form of the disease tends to be fairly mild. The spleen, the bones, and the blood cells are affected.
Symptoms of Gaucher disease depend on the type. The infantile type is more severe than the juvenile or adult types.
Symptoms include: an abnormally large spleen, the organ in the upper right part of the abdomen that helps filter bloodlow blood (red blood cell and platelet) counts, which may cause easy bruising, bleeding, fatigue, or infectionsan abnormally large liverbone pain or bone fracturesbrain involvement, which may cause developmental delay and an unsteady style of walking
Gaucher disease is a genetic disorder. If both parents carry the gene for the disorder, their children are at risk.
Nothing can be done to prevent Gaucher disease in someone who has already been born. Genetic testing can determine whether someone has the gene that causes Gaucher disease. Genetic counseling may be useful for couples with a family history of Gaucher disease.
A complete history and careful physical exam are the first steps in making the diagnosis. Heredity is important as the disease is more often seen in descendants of Ashkenazi Jews.
If there is suspicion, tests of enzyme levels in the patients' white blood cells are done. Low levels of a particular enzyme confirm the diagnosis.
The severe form of Gaucher disease starts in early childhood. This form usually causes death from brain involvement. In the more common, milder form, the long-term effects are low blood counts, bone disease, and an enlarged spleen.
Gaucher disease is not contagious. It is an autosomal recessive disorder. This means that a person must inherit the gene from both parents. Parents who have had a child with Gaucher disease are at risk for having other affected children.
Treatment is now possible and quite effective. Most patients are begun on either of the following: Enzyme replacement intravenously (IV), with dose given every two weeks, is very effective, but quite expensive. Reducing the abnormal deposits is also done, but with tablets taken by mouth, 3 times a day.
The earlier either treatment is begun, the greater the likelihood of improvement in many of the aspects of this disease.
The IV medication used to treat the disease may cause allergic reactions and lack of response to later doses may occur. The oral medication may cause diarrhea, weight loss, and occasional nervous system problems.
Treatment of Gaucher disease is lifelong.
Physical exams and periodic blood tests may be used to monitor Gaucher disease. Any new or worsening symptoms should be reported to the healthcare professional.
The National Gaucher Foundation
National Foundation for Jewish Diseases
Nelson Textbook of Pediatrics, 1996, Behrman et al.
Cecil Textbook of Medicine, 1996, Bennett et al.