What is Gaucher’s Disease?
Gaucher disease is a direct result of the buildup of fatty substances within the body, specifically the liver and spleen. This buildup causes the affected organs to enlarge and not function normally.
This fatty substance accumulation can also occur within the bone tissue. Not only does it weaken the bone, but it also increases the risk of fractures. If the bone marrow is affected, it can potentially affect the blood’s ability to clot. But what causes Gaucher’s disease? Individuals suffering from Gaucher’s disease do not have the enough of the enzyme needed to effectively break down these fatty substances within their bodies.
Diagnosis of Gaucher’s Disease
Gaucher disease is inherited disorder that’s found mostly commonly in Jewish people of Central European descent. Gaucher disease is diagnosed through a blood test. A person’s carrier status can be determined through their saliva or blood.
Carrier DNA Tests For Gaucher Disease
If you are considering having a baby, your physician may recommend that you undergo genetic testing so that an accurate diagnosis can be made. An enzyme analysis measures the glucocerebrosidase activity within your leukocytes, urine or fibroblasts. People suffering from Gaucher disease will have significantly low levels of enzyme activity. There are four common genetic mutations of the GC gene to include:
DNA analysis of the above-mentioned mutations detects approximately 90 to 95 percent of mutations associated with Gaucher disease within the Ashkenazi population, and roughly 50 to 75 percent of other associated mutations within the general population.
Analysis of genetic mutation is every effective in defining the subtype and classifying which type of Gaucher someone has.
It’s estimated the approximately 1 in 60,000 Jewish people have Gaucher disease. However, approximately one out of every 450 people of Ashenzasi descent will have the disorder, and the carrier rate is roughly 1 in 10.
The testing process can be performed in a laboratory, hospital or in a specialist’s office. Assay testing of DNA and RNA will help to determine if you or your unborn child is at high risk of developing Gaucher disease. Treatment typically involves enzyme replacement therapy.