Gaucher disease is an inherited condition in which your body does not store fatty materials (called lipids) correctly. Fatty substances can build up around your vital organs, including your liver, spleen, lungs, bones, and brain.
Gaucher disease is categorized as a metabolic disease because the fat accumulation affects how many of your bodily systems function. The condition is also called a lipid storage disorder.
Gaucher disease is caused by a deficiency of an enzyme called glycocerebrosidase. This enzyme is responsible for breaking down the fatty substances in your body. When you don’t make enough glucocerebrosidase, lipids do not break down properly. The lipids accumulate around your organs.
Glucocerebrosidase deficiency is a genetic condition. The gene is recessive, so both of your parents need to have the gene for you to have Gaucher disease. This does not mean, however, that everyone who has the gene for glucocerebrosidase deficiency gets Gaucher disease. The Mayo Clinic says that only 25 percent of people with the gene develop Gaucher disease. The child of two carriers has a 50 percent chance of having the enzyme deficiency gene but not being affected by the disease. Twenty-five percent of people whose parents are carriers for the Gaucher disease gene may end up not being a carrier themselves (Mayo Clinic).
Three types of Gaucher disease exist: type 1, type 2, and type 3. You are more likely to have type 1 Gaucher disease if you are of Ashkenazi descent, or Eastern-European Jewish descent. The other types of the condition can affect people of all heritages equally.
Type 1 Gaucher disease is also called “non-neuropathic.” It is the mildest form and most common type of the condition. Symptoms of type 1 can begin in childhood or adulthood, and range in severity.
- bone pain
- bone breaks
- a swollen liver and spleen
- yellow spots in the eyes.
Type 1 Gaucher disease is characterized by a low number of platelets in your blood, leading to bruising, fatigue, and nosebleeds. Children diagnosed with this form of the condition may experience delayed puberty. The brain is not affected by Gaucher type 1.
Type 2 Gaucher disease is called “acute infantile neuropathic Gaucher disease,” and is the most serious form of the condition. According to the National Gaucher Foundation, Type 2 is fatal (NGF). Babies diagnosed with type 2 are usually between the ages of three and six months old.
Many of the symptoms of type 1 are also present in children with type 2. Seizures and brain damage occur from the enzyme deficiency. Most children with type 2 Gaucher disease usually die before their second birthday.
Type 3, or “chronic neuropathic,” Gaucher disease is usually diagnosed during the teenage years. Type 3 is a progressive form of Gaucher disease. Patients experience liver and spleen enlargement as in the other types of the condition, but the progression is not as rapid as in type 3.
Brain damage, including mental retardation, can be a factor in type 3 Gaucher disease, but does not affect all patients. Movement of the eyes, and muscle coordination may also be affected by the lack of glucocerebrosidase. Breathing problems may exist as well.
According to the National Gaucher Foundation, the lifespan of adults with type 3 Gaucher disease may be shorter than the average adult, even with treatment. Adults usually only live into their 30s or 40s (NGF).
Your doctor will perform genetic analysis to confirm a diagnosis of Gaucher disease. Blood work can measure your enzyme levels to see if you have lower-than-normal levels of glucocerebrosidase. Genetic mutation screenings show if you have the gene for the disease, and may help determine which type of the disease you have.
Imaging tools can provide your doctor with information about the progression of the disease. DEXA scans measure your bone density. MRIs show the condition and sizes of your liver and spleen. If you have Gaucher disease, you may periodically require testing to assess your condition.
Enzyme Replacement Therapy
Types 1 and 3 Gaucher are treated with enzyme replacement therapy. You will be given a dose of intravenous enzymes every two weeks to boost your glucocerebrosidase levels. Through enzyme replacement, the liver and spleen inflammation recedes, and bone density strengthens.
Unfortunately, enzyme replacement therapy does not reverse brain damage sustained by people with types 2 and 3 of Gaucher disease.
Bone Marrow Transplants
Those who have anemia and other signs of red blood cell abnormalities may also require bone marrow transplants as a treatment method. In a bone marrow transplant, you are given chemotherapy and/or radiation to kill off your existing bone marrow. Then bone marrow cells from a donor are transplanted into your bone marrow, so they can begin to grow and replace your bone marrow and blood.
Other treatment methods vary according to the damage done by Gaucher disease. According to the National Institute of Neurological Disorders and Stroke, some people need joint replacement after years of joint pain and disability (NINDS). Others might have an enlarged spleen removed if the organ does not respond to enzyme replacement.