Gaucher Disease – What It Is, Symptoms and Treatments!
Gaucher disease – what is it, symptoms and treatments of this condition. In addition, Gaucher Disease is a deficiency of the enzyme glucocerebrosidase. If you have Gaucher Disease , your body will not distribute fatty substances properly. This can cause fat to accumulate around your vital organs .
There are three types of Gaucher Disease . Type 2 is usually fatal until age 2. Enzyme replacement therapy can treat types 1 and 3. Gaucher disease is an inherited condition where your body does not properly store fatty materials called lipids. Fatty substances can grow around your vital organs, including your:
- Liver
- Spleen
- Lungs
- bones
- Brain
Gaucher disease is a metabolic disease. The accumulation of fat that Gaucher Disease causes affects the functioning of certain bodily systems. The condition is also called lipid storage disorder.
Symptoms of Gaucher Disease: There are detailed symptoms for the 3 types of Gaucher Disease .
Type 1 Gaucher Disease: Type 1 Gaucher Disease is also called “non-neuropathic Gaucher disease”. It is the mildest form of the disease and the most common. Type 1 symptoms can start in childhood or adulthood. They vary in severity.
Symptoms of Type 1 Gaucher Disease Include:
Type 1 Gaucher disease is characterized by a low number of platelets in the blood . This can lead to bruising, fatigue and nosebleeds. Children diagnosed with this form of the condition may experience delayed puberty. Type 1 Gaucher Disease does not affect the brain.
Type 2 Gaucher Disease: Type 2 Gaucher Disease is called “ Acute Infantile Neuropathic Gaucher Disease ”. It is the most serious form of the condition. According to the National Gaucher Foundation, Type 2 Gaucher Disease is fatal and usually causes death before age 2 years. Babies with this condition usually receive a diagnosis between the ages of 3 and 6 months old.
Many of the type 1 symptoms are also present in children with type 2 Gaucher Disease . Seizures and brain damage can also occur.
Type 3 Gaucher Disease: Type 3 Gaucher Disease is called “chronic neuropathic Gaucher disease”. Gaucher disease is usually diagnosed during adolescence. It is a progressive form of Gaucher Disease . People with type 3 Gaucher experience experience enlargement of the liver and spleen, which progresses more quickly in type 3 than other types.
Brain damage can occur in type 3 Gaucher Disease , but it does not affect everyone with this type. In some cases, it can lead to cognitive impairments. Eye movements and muscle coordination can also be affected. There may be breathing problems as well.
Causes of Gaucher Disease: A deficiency of the enzyme glucocerebrosidase causes Gaucher Disease . This enzyme is responsible for breaking down fatty substances in your body. When you don’t make enough glucocerebrosidase, your body doesn’t break down lipids properly. As a result, lipids build up around your organs.
Glucocerebrosidase deficiency is a genetic condition. The gene is recessive, so both parents need to carry the gene for you to develop Gaucher Disease . If both of your parents are carriers of the gene, but they don’t have the disease itself, you have only a 25% chance of inheriting two copies of it. You have a 50 percent chance of inheriting one copy of the gene, in which case you are unlikely to develop symptoms.
Gaucher Disease Diagnoses: Your doctor may use blood work to measure your enzyme levels to see if you have lower than normal levels of glucocerebrosidase. If you do, they will perform a genetic analysis to confirm the diagnosis of Gaucher Disease . Gene mutation tests will help them determine if you have the disease gene. It can also help them learn what kind of illness you have.
If you are diagnosed with Gaucher Disease , you may need periodic tests to assess your condition. Your doctor may use imaging tools to see how your condition is progressing. They can use dual energy X-ray absorptiometry analysis, which is a special type of X-ray, to measure your bone density . They may also use an MRI to assess the condition and size of your liver and spleen.
Gaucher Disease Treatments: Depending on the type of Gaucher Disease you have, you may be eligible for some treatment options.
Enzyme Replacement Therapy: Enzyme replacement therapy is the treatment for types 1 and 3 of Gaucher Disease . You will receive a dose of intravenous enzymes every two weeks to increase your glucocerebrosidase levels.
This will help reduce liver and spleen inflammation. It will also promote better bone density . However, enzyme replacement therapy does not reverse the brain damage suffered by people with Gaucher Disease .
Bone Marrow Transplants: If you have anemia or other signs of red blood cell changes, you may also require bone marrow transplants . In a bone marrow transplant , you will have chemotherapy, radiation therapy, or both to kill your existing bone marrow . Then, your doctor will transplant bone marrow cells from a donor into your bone marrow. If the transplant is successful, these cells will begin to grow and replace your bone marrow and blood .
Other Treatments: Other treatment methods vary, depending on the damage done by Gaucher Disease . For example, if your joints are affected, you may need joint replacement surgery to improve your mobility and quality of life. If you have an enlarged spleen that does not respond to enzyme replacement therapy, you will need to have it surgically removed. In some cases, you may also benefit from blood transfusions .