What Effects Does Gaucher Disease Have on the Body?
Gaucher disease can have a wide range of impacts on the body, depending on the individual. Gaucher’s disease symptoms can range from severe to non-existent in some people.
Your body may be affected by Gaucher disease in the following ways:
- -Bone discomfort and easily fractured bones owing to spleen and liver enlargement
- -Swollen belly
- -Fatigue and anemia (low blood counts)
- -Problems with bleeding and bruising
Gaucher Disease Types:
Based on the presence or absence of early-onset brain involvement, scientists categorize Gaucher disease into three types:
Is the most common form of the disease in Western countries, accounting for around 95% of all sufferers. Spleen and liver enlargement, bone issues, and weariness are all symptoms. The development of the brain is normal. Learn more about the treatable Gaucher disease type 1.
This is an uncommon form of Gaucher disease that causes significant neurological (brain stem) problems. Because of the severe, irreversible brain damage, it is frequently deadly within the first two years and is currently untreatable.
Although this type of Gaucher disease is uncommon in the United States and Europe, it is the most frequent worldwide. Gaucher disease type 3 is milder than types 1 and 2, with symptoms similar to type 1 and some neurological impairment. While patients normally have a shorter lifespan, with therapy, some can live into their 50s.
How Is It Treated?
Gaucher disease type 1, which is the most frequent kind in Western countries, is curable. Non-neurological symptoms are also treated in type 3, which is the most common form of the disease worldwide. Gaucher disease treatment can reduce signs and symptoms and improve overall health in type 3 patients who do not have substantial or progressive brain involvement.
Enzyme replacement therapy (ERT) and substrate reduction therapy are two options for treatment (SRT). It’s critical to engage with a Gaucher expert who can keep track of your progress and change your medication as needed.