Gaucher disease is an inherited metabolic disorder caused by glucocerebrosidase enzyme deficiency. The consequence of this deficiency is an accumulation of glucocerebroside, a harmful fatty substance. As such, Gaucher disease is classified as a lipid storage diseases.
Because of glucocerebrosidase enzyme deficiency, glucocerebroside is not metabolized appropriately and an excess can accumulate in your spleen, liver, lungs, bone marrow and brain. And this build up interferes with their normal function, causing severe symptoms and life threatening complications.
There are three main types of Gaucher disease. Type 1 is the most common, the mildest and usually doesn’t cause any brain damage. Type 2 causes extensive brain damage and progresses rapidly, which causes premature death. Type 3 tends to progresses slower and causes less of a brain impact than type 2.
Symptoms of this metabolic disorder vary greatly depending on the particular type you have. However, some of the general symptoms Gaucher enzyme deficiency causes are:
- anemia
- arthralgia
- bone pain
- osteopenia
- nosebleeds
- lymphedema
- enlarged liver
- easy bruising
- splenomegaly
- bone fractures
- edema at birth
- delayed puberty
- liver malfunction
- excessive fatigue
- thrombocytopenia
- excessive bleeding
- distended abdomen
- brownish skin pigmentation
- increased susceptibility to infection
- yellow fatty deposits in whites of eyes
A couple of symptoms specific to Type 2 Gaucher disease are:
- apnea
- rigidity
- seizures
- hypertonia
- gait abnormality
- swallowing problems
- cognitive impairment ~ mental retardation, dementia
A few symptoms only Type 3 Gaucher disease may cause are:
- myoclonus
- convulsions
- heart valve problems
- cognitive deterioration
- abnormal eye movements
A possible enzyme deficiency complication of all types of Gaucher’s disease is an increased risk for certain cancer, especially multiple myeloma. And pregnancy may worsen your symptoms, yet pregnancy is frequently successful for those who suffer from this metabolic disease.
Gaucher disease has no cure. Some with this type 1 metabolic disorder may need very little treatment because its enzyme deficiency causes such mild symptoms. Treatment for types 1 and 3 typically consists enzyme replacement therapy, which is often very effective. There is no specific treatment for type 2 Gaucher disease.
Enzyme replacement therapy means your deficient enzyme health condition will be augmented with synthetic enzymes. Occasionally, allergic or hypersensitivity reaction to the enzyme replacement treatment is experienced.
Other treatments that may be considered to treat your Gaucher disease symptoms encompass:
- spleen removal
- blood transfusions
- bone marrow transplant
- miglustat ~ a drug that reduces glucocerebrosides production in some with type 1 disease, diarrhea & weight loss are common side effects
If you have type 1 Gaucher’s disease with enzyme deficiency symptoms, you may live comfortably with enzyme replacement therapy.