Gaucher disease is a rare inherited condition that causes an abnormal accumulation of fatty substances.
Instead of eroding naturally, glucocerebrosidase accumulates in the spleen, lungs and bone marrow. In rare cases, it accumulates in the brain.
Signs and Symptoms
The three types of Gaucher disease vary according to the manifestation and intensity of the symptoms. In general, the later the symptoms are presented, the less likely they are to aggravate.
Symptoms may include:
- Enlargement of the spleen or liver
- Fatigue due to anemia
- Deformity of the femur known as “Erlenmeyer flask deformity.”
- Compression of the lungs
- Slow or delayed growth in children
- Bone and joint problems
- Blood abnormalities
- Intestinal problems
- Poor pulmonary and cerebral function
- Eye problems
- Developmental delay
- Neurological symptoms manifest within the first months of life and are fatal by three years of age.
- The main symptom is a slowly progressive neurological disease. Other symptoms are similar to those of type I and may appear early in childhood. People with type III Gaucher disease who survive during adolescence may live to 30 or 40 years
The primary risk factor for contracting Gaucher’s disease is a family history of the condition.
The diagnosis of Gaucher’s disease is confirmed by DNA tests or tests that measure glucocerebrosidase activity, including blood, tissue or urine tests.
Treatment and Management
There is no treatment for the severe neurological symptoms that can occur with type II and III Gaucher disease. However, recent options for Gaucher type I include:
Enzymatic restitutive therapy: the therapy consists of a regular infusion of Cerezyme, a chemically modified enzyme. This treatment can help reduce skeletal abnormalities, the size of the liver and spleen, and reverse some abnormal blood counts.
Substrate Reduction Therapy:
Bone marrow transplant: The transplant is performed only in patients with severe clinical symptoms and bone abnormalities. If it works, it provides a lasting cure.
Splenectomy: Surgical removal of the spleen may be performed if enzyme-replacement therapy is not available.