The build-up of fatty substances in specific organs, such as the liver and spleen, causes Gaucher disease. This makes these organs become enlarged, and in time, they begin to malfunction, resulting in health problems.
Even the bones can be affected; if this happens, they can weaken, making fractures far more likely to occur. Blood clotting can also be inhibited if fat builds in the bone marrow. The eyes, lungs, and brain can also be impacted by this disease.
Gaucher disease is an inherited disorder involving enzyme deficiency, and symptoms can appear at any age. There are three types of Gaucher disease: type 1 is the most common and affects 90% of sufferers. It is characterised by blood disorders such as platelet deficiency and organ enlargement.
Type 2 affects babies between three and six months old, and it is also fatal, with most babies not living longer than two years.
Type 3 Gaucher disease is usually accompanied by enlarged organs, seizures, breathing difficulties, and skeletal abnormalities.
Symptoms of Gaucher disease are caused by the build-up of fat in organs, but what symptoms an individual suffers is highly dependent on what organs or part of the body is affected.
If different areas of the body are impacted by the build-up of fatty substances simultaneously, then many different symptoms, such as liver problems, fractures, and blood disorders like anaemia, can occur. Abdominal pain can also be present due to poor liver function.
In those without Gaucher disease, an enzyme helps break down lipids (fat) preventing them from accumulating in organs. Individuals with this condition do not produce the enzyme needed to effectively deal with lipids in the body, and fats are therefore not broken down.
The major risk factor that can lead to the development of Gaucher disease is if both parents are carriers of the mutated gene. If this is the case, then there is an increased risk that any children born will develop the condition during their lifetime.
Those of Eastern and Central European Jewish ancestry are at the highest risk of developing the most common form of Gaucher disease.
Diagnosis of Gaucher disease usually involves a hands-on physical examination where the liver and spleen can be felt for enlargement. Lab tests involving a simple blood test can help check the levels of the enzyme associated with Gaucher’s disease.
Genetic analysis can also be used to confirm Gaucher’s disease. Bone density scans and MRI scans can check the progression of the disease internally as well.
There is no cure for Gaucher disease, but there are treatments that can help ease the symptoms associated with this condition and improve the quality of life of sufferers.
Enzyme replacement therapy can slow the progression of the disease. Oral medication can be administered, and this can inhibit the build-up of fatty substances that are associated with this condition. Osteoporosis drugs can help replace lost bone density, making fractures less likely to occur.
The aim of all these treatments is to improve the quality of life of those who suffer from this complex disease.