Gaucher disease is characterized by the accumulation of fat particles in excess in the vital organs like liver, lungs, spleen and bone marrows. This collection of harmful fatty molecules can cause intense bone pain and organ swelling. This condition occurs due to the shortage of enzyme glucocerebrosidase and hence this disease is also called as glucocerebrosidase deficiency. Gaucher disease can develop in all age groups and often seen in Jewish people of Central Europe and Eastern European countries.
Symptoms of Gaucher disease vary as per the age, health condition and type of the disease. It is possible that even identical twins can have different range of symptoms.
There are 3 types of Gaucher’s disease as given below :
Type 1 :
Type 1 is the mildest form of this disease and is the most common variety. This type largely occurs in adults. Some of the signs of Type 1 disease are thinning of bones, intense pain on the bones, liver enlargement (hepatomegaly) or enlargement of spleen, reduced production of red blood cells (anemic condition), extreme tiredness, reduced blood platelets (causing bruises often), delay in puberty and yellow patches on the eyes. Often, this type does not affect the brain.
Type 2 :
This type is very rare and is severe when compared with the other two types. Initial symptoms begin as early as 3 months of age and the babies will have intense brain damage as the disease progresses. The symptoms are very severe like that of first type and in addition the affected baby can develop seizures, brain problems and stiffness. Often, the baby is diagnosed for mental retardation.
Type 3 :
Type 3 is also very rare and occurs in childhood. This type is chronic and slow progressing in nature. It also affects the brain as the Type 2 but the damage is milder than type 2. Apart from the symptoms mentioned in Type 1, the affected child may develop brain problems (in slower rate), lack of muscle coordination and may show abnormal eye movements.
Gaucher disease is caused by deficiency of glucocerebrosidase enzyme. This enzyme is essential for breaking up of fatty particles and due to shortage of enzyme fatty substances get accumulated in various organs and brain and even on the bone marrow. It can be inherited on the basis of autosomal recessive pattern. For a child to inherit this disease, both the father and the mother should be carriers of mutated gene. Even then the child can develop this disease only on chances. There is 25% chance for inheriting the carrier genes, 25% chance for developing Gaucher disease and 50% chance for not inheriting the carrier genes/and not this disease.
Who are at risk?
People belonging to Ashkenazi Jewish race of Central Europe or Eastern Europe have increased risk of getting this disease. In rare cases, this disease can cause complications like severe bone pain, fractures, internal bleeding, and multiple myeloma (a type of cancer). Developing seizures are common if the child gets Type 2 disease and some children having Type 3 can develop heart problems due to calcification of valves.
Diagnosis can be made right before the child-birth if the parents are carriers of mutated gene. The doctor will measure the levels of enzyme glucocerebrosidase and very low level indicates the presence of disease and intermediate level can be a sign of carrier. Genetic mutation test is done to identify the type of Gaucher disease.
It is necessary to monitor the disease once your child is diagnosed with this disease. On such cases, MRI scanning and dual energy X-ray tests are done as per the symptoms. Prenatal screening is done for the pregnant women if she belongs to Ashkenazi race. Genetic counseling is the best solution to avoid pregnancy among both carrier genes.
People with Type 1 symptoms may not require any treatment if they do not have any discomfort. No treatment is available for Type 2 and 3. Only the symptoms are managed by therapies. Enzyme replacement is done to improve the deficiency of glucocerebrosidase. High dosage of enzyme is injected intravenously for every 2 weeks until the symptoms disappear. This approach can certainly prevent enlargement of spleen/liver. It can also improve bone density preventing fractures. In severe cases transplantation of bone marrow can be done but it carries certain risk. Medications like miglustat are prescribed for adults with Gaucher disease. But this drug can cause diarrhea and weight loss.
If the disease develops in adulthood it may not cause severe complications and the affected person can lead normal life. But infants and children having this disease cannot survive more than 2 years. An individual developing this disease on his teens have chances of survival like other adults. It is a very rare disease affecting only a few people of specific race.