Gaucher’s Disease Symptoms, Causes, Diagnosis and Treatment

What is Gaucher’s disease?

Gaucher’s disease is an inheriting disorder that consequents due to the accumulation of specific fatty materials in specific organs, mainly the liver and spleen. Such causes them to get enlarged whilst greatly affecting their functions. Fatty materials linked with GD can also accumulate in the tissues of your bone. Such results your bone to become weak. Weak bones can easily fracture. In case your bone marrow becomes affected, it may then interfere with the ability of your blood to clot. In individuals with Gaucher’s disease, an enzyme responsible for breaking down such fatty substances fails to work properly. Enzyme replacement therapy is a common treatment of Gaucher’s disease.

What are the symptoms of Gaucher’s disease?

Its symptoms can greatly vary. Few individuals suffering from Gaucher’s disease may experience no signs at all. Furthermore, most individuals suffering from the disorder tends to face varying levels of the below mentioned problems:

Skeletal abnormalities: the disorder can make your bone weak, raising the chances of fractures.
Abdominal complaints: abdomen of a person with Gaucher’s disease can get painfully distended since the liver; particularly the spleen tends to enlarge considerably.
Blood disorders: lacking healthy red blood cells, can consequent extreme fatigue. The disorder also harms your healthy cells in charge of clotting. Such can lead easy nosebleeds and bruising.

In rare instances, the disorder affects the brain, such can cause seizures, difficulty to swallow, muscle rigidity and abnormal movements of eye.

When is the high time to consult a doctor?

In case of noticing any sign linked with Gaucher’s disease, call up for an appointment with your doctor.

What causes Gaucher’s disease?

Gaucher’s disease is an inherited disorder; both the father and mother must carry genetic mutation of Gaucher’s disease for their baby to inherit it.

What are the possible complications of Gaucher’s disease?

Few potential complications that are associated with Gaucher’s disease include:

Cancers for example lymphoma, leukemia and myeloma.
Parkinson’s disease.
Obstetric and gynecological problems.
Growth delays (children).

How is Gaucher’s disease diagnosed?

During a careful physical exam, the doctor will press the patient’s abdomen in order to notice the size of his or her liver and spleen. The doctor can also suggest the following:

Lab tests.
Imaging tests.
Genetic counseling.

How is Gaucher’s disease treated?

Clearly, Gaucher’s disease is incurable, however a number of treatments have proved to control its symptoms and prevent permanent damage. Few individuals tend to have minor signs and symptoms of Gaucher’s disease; such individuals do not need any treatment.

Furthermore, few treatment options of Gaucher’s disease include:

Medications: a number of people suffering from the disorder have noticed considerable level of improvement in their signs after starting the treatment with:

Osteoporosis drugs.
Miglustat (Zavesca).
Enzyme replacement therapy.

Surgical plus other measures: in case a person with Gaucher’s disease have severe symptoms and have failed to respond less invasive treatment options, then the doctor can recommend the following: