How to Diagnose Gaucher's Disease

One of the most common lipid-storage disorders, Gaucher's disease is the result of an enzyme deficiency which, in turn, causes its fatty substrate to build up in the body's cells and tissues. People who suffer from Gaucher's disease also generally face a heightened sensitivity to infection and infectious diseases.

Instructions

Difficulty: Challenging

1. Know that an abnormal yellowish-brown skin pigmentation is typically the only visible external symptom of the disease. Patients with any of the three types of the disease will begin to display this mutation of skin pigmentation when they suffer the onset of Gaucher's disease.
2. Watch for abnormal bone development in infants or bone degeneration in children and adults who develop the disorder. Three-quarters of Gaucher's disease cases result in osteoporosis. The femur bone in the upper leg is often visibly affected.
3. Be aware that doctors look for an enlarged spleen and an enlarged liver in patients when attempting to diagnose Gaucher's disease. If either condition is detected independently of a test for Gaucher's disease, have the affected individual screened for Gaucher's disease immediately.
4. Get unexplained or easily caused infection and bleeding checked by a doctor. Gaucher's disease triggers a condition called "hypersplenism," which leads to the rapidly increased destruction of both red and white blood cells and their scab-causing platelets. Thus, Gaucher's disease patients display symptoms of hemophilia.
5. Understand that, while relatively rare, cirrhosis of the liver can be triggered by Gaucher's disease. It can be difficult to diagnose Gaucher's disease based solely on symptoms of a liver disorder, however.
6. Know that neurological complications accompany Type II and Type III Gaucher's disease. In Type II, uncontrollable convulsions and improper cognitive development result. In Type III, convulsions and dementia develop in addition to muscle apraxia, which is an inability for the body to carry out learned movements. Remember that Type II Gaucher's disease affects infants and that Type III Gaucher's disease can appear at any time during childhood or even adulthood. Have a doctor diagnose the cause of any such symptoms immediately.
7. Be aware that treatment of Gaucher's disease is very expensive. Bone marrow transplants, enzyme replacement treatments and joint replacement surgery are typically necessary. The patient's quality of life suffers considerably, but can be mitigated through early diagnosis and aggressive and immediate treatment.

Tips & Warnings

• There are three common sub-types of the disorder. Type I is the most common, with approximately one case per 50,000 births. Type II usually begins when an infant is six months of age and is characterized by acute brain damage, eye disorders and seizures. Infants afflicted with Type II Gaucher's disease usually pass away before their second birthday. Type III Gaucher's disease can onset anytime during childhood or adulthood.