There are about 7,000 rare diseases in America. This affects approximately 25 million people. Rare diseases are classified as orphan diseases when less than 200k people are affected. Many of these orphan diseases are caused by genetic disorders. Gaucher disease is just one example.
Gaucher disease, named after the French physician who first described these symptoms in 1882 is an inborn metabolic condition. Patients with this disease are unable produce the enzyme, glucocerebrosidase. This helps to break down a specific complex of lipids, glucocerebroside. This lipid builds up in the body’s tissues including the liver, bones marrow, liver, lymphatic system and skin.
To develop the disease, a person must inherit an abnormal gene from each of their parents. Around one in every 400,00 to 60,000. It is most common among Ashkenazi Jews (Central and Eastern European) who are affected by the disease.
Gaucher disease can manifest differently in different people. There are three types. Type 1 Gaucher disease, the most common type of the disorder, is the most prevalent. The most common form of the disorder is Type 1 Gaucher disease. Patients can develop skeletal abnormalities and enlarged spleens. They may also experience extreme fatigue, anemia, nosebleeds, and extreme fatigue. Some patients are diagnosed when they are young, while others develop symptoms at age 50-60.
Children are affected by Type 2 Gaucher disease. It is more severe than type 1 and causes severe neurological symptoms. It usually causes death within three years.
The symptoms of type 3 Gaucher disease typically appear in childhood and adolescence. Although it can cause neurological problems, the symptoms are usually not as severe as type 2 and develop gradually.
Genetic testing can help diagnose Gaucher disease. People from low-income families are often tested to determine if they have the abnormal gene. This could allow them to pass it on to their children. Gaucher disease can be treated with enzyme replacement therapy (ERT). This treatment is very effective for most types of Gaucher disease. ERT reduces the size of the liver and spleen, decreases skeletal anomalies and reverses other debilitating symptoms such as fatigue and abnormal blood counts.
The National Gaucher Foundation provides information about Gaucher Disease, Treatment Options, Patient Support, and upcoming Events. www.gaucherdisease.org/rp.
