Gaucher disease is a genetic disorder. It’s a lysosomal storage disease, which is a condition in which fatty molecules accumulate in the bone marrow, liver, and spleen. Sphingolipids damage bones and expand organs, preventing them from performing their functions properly. Gaucher illness has no treatment, however medicines can help to alleviate pain and improve the quality of life.
There are three types of gaucher diseases
1. Gaucher disease type 1
The spleen, liver, blood, and bones are all affected by Gaucher disease type 1. The brain and spinal cord are unaffected. Type 1 Gaucher illness is manageable, but not curable. From children through adult years, signs might emerge at any age.
2. Gaucher disease type 2
Type 2 is an uncommon variant of the illness that affects infants under the age of 6 months. It creates an enlargement of the spleen, as well as mobility issues and serious brain injury. Gaucher disease type 2 has no known cure. This syndrome causes babies to die within 2 – 3 years of birth.
3. Gaucher disease type 3
The most frequent type of Gaucher illness is type 3. It first develops before the age of ten, causing bones and organ deformities as well as brain problems. Many persons with Gaucher disease type 3 can survive into their 20s or 30s because of medications.
Symptoms and signs of gaucher diseases
Gaucher disease symptoms usually differ from person to person. Gaucher illness can manifest itself in a variety of ways, with some patients experiencing just minor symptoms or nothing at all. Whereas in some individuals it can lead to major health problems and even death.
1. Complaints about the stomach.
The stomach can become painfully bloated when the liver and especially the spleen grow substantially.
2. Skeletal anomalies
Gaucher illness weakens bones, making painful fractures more likely. It can also disrupt the blood supply to your bones, resulting in the death of sections of the skeleton.
3. Blood-related issues
Anemia, or a lack of healthy red blood cells, can cause extreme weariness. Gaucher illness also damages the cells that control blood clots, making bruises and nosebleeds more common.