A rare genetic disorder, Gaucher disease affects your body's ability to break down and use fats. Your organs, bones, and blood can be affected, as can your brain and nervous system in some cases. Gaucher disease is inherited, so you get it from your parents. Although it is more common in Ashkenazi Jews, anyone can suffer from it.
A mutation in the GBA gene causes Gaucher disease, which produces an enzyme called glucocerebrosidase (GCase). GCase breaks down glucocerebroside, a type of fat found in your body cells. In Gaucher disease, you do not have enough GCase, or the enzyme does not work properly. As a result, glucocerebroside builds up in your cells, especially in your spleen, liver, bone marrow, and sometimes even in your brain. Your organs and tissues can be damaged by this buildup, and their normal functioning can be impaired.
The symptoms of Gaucher disease vary depending on the type and severity of the condition. There are three main types of Gaucher disease:
It affects your spleen, liver, blood, bones, but not your brain. It can cause anemia, fatigue, bruising, bleeding, bone pain, fractures, and organ enlargement.
A rare and severe form of the disease, type 2 affects your spleen, liver, blood, bones, and brain. It can cause seizures, eye movement disorders, muscle stiffness, and swallowing difficulties.
It is also rare and intermediately severe. It affects your spleen, liver, blood, bones, and brain. Aside from similar symptoms to type 1, it can also cause neurological conditions such as cognitive impairment, eye movement disorders, and seizures. It usually occurs before the age of 10 and can shorten your life.
To diagnose Gaucher disease, your doctor will ask about your medical history, family history, and symptoms. They will also perform a physical exam and order some tests, such as:
Blood tests to measure your levels of GCase, hemoglobin, platelets, and liver enzymes.
Genetic tests to look for mutations in the GBA gene.
Bone marrow biopsy to check for fat accumulation in your bone marrow cells.
Imaging tests, such as X-rays, MRI, or ultrasound, to look for bone damage or organ enlargement.
Neurological tests, such as EEG or eye exams, to assess your brain function.
There is no cure for Gaucher disease, but there are treatments that can help manage your symptoms and prevent complications. The main treatments are:
ERT involves receiving infusions of synthetic GCase into your bloodstream. ERT can reduce fat buildup in your cells and improve your organ and bone health. You may need ERT every two weeks for the rest of your life.
You may need to take SRT daily for the rest of your life if you are taking oral medications that reduce your body's production of glucocerebroside. You'll need to take SRT for the rest of your life if you are taking oral medications that reduce your production of glucocerebroside.
You can cure the disease with gene therapy, an experimental treatment that corrects the faulty GBA gene in your cells. In spite of the fact that gene therapy is still in its infancy and not widely available, it may restore the normal function of GCase.
In addition to these treatments, you may also need other medications or procedures to treat specific problems, such as painkillers, blood transfusions, surgery, or bone marrow transplant.
Gaucher disease is not preventable, but you can take some steps to reduce your risk of passing it on to your children. If you have Gaucher disease or a family history of the condition, you can:
Consult a genetic counselor before planning a pregnancy. They can help you understand your chances of having a child with Gaucher disease and the options available for prenatal testing or screening.
Consider preimplantation genetic diagnosis (PGD) if you are using in vitro fertilization (IVF). This is a technique that allows you to select embryos that do not have the GBA mutation before implanting them in the uterus.
Consider adoption or donor eggs or sperm if you want to avoid passing on the GBA mutation to your child.
It is a rare genetic disorder that affects how your body breaks down and uses fats. Gaucher disease can cause various problems in your organs, bones, and blood. In some cases, it can also affect your brain and nervous system. It can affect anyone. It is more common among Ashkenazi Jews, but anyone can suffer from it. There is no cure for Gaucher disease, but there are treatments that can help manage your symptoms and prevent complications. These treatments include enzyme replacement therapy, substrate reduction therapy, and gene therapy. It is important to consult a genetic counselor before planning a pregnancy if you suffer from Gaucher disease or have a family history of the condition.
