Fabry Disease
Genetics and Genomics
Obie Editorial Team
Fabry Disease is a genetic disorder passed along to children from the mother. The gene for the disorder is carried on the X chromosome. Male children born to carrying mothers have a 50% chance of inheriting the disease. Female children have a 50% chance of being a carrier of the disease. Patients with Fabry Disease do not breakdown dietary fats so fats are stored in organs and throughout the body at unhealthy levels. It is estimated that about one in 40,000 men suffer from the disease.
Who is at Risk?
Children born to mothers carrying the altered gene on the X chromosome are at risk for developing Fabry Disease. Male children tend to develop symptoms during childhood, but females, including the carrier, often develop symptoms in adulthood. Typically, symptoms in women are milder than men, but there are cases of women suffering more severe symptoms of the disease.
Symptoms
The most common symptom of Fabry Disease is an unhealthy storage of fat. Fat is often stored in the eyes, kidneys and heart. Patients may feel a burning sensation on the hands or cloudiness of the cornea impairing vision.
Complications
Complications of Fabry Disease are often associated with unhealthy levels of fat. Patients are at increased risk for stroke and heart attack. As the disease progresses, the heart and kidneys may grow larger than normal, further increase the risk of cardiovascular complications. If kidney function is impaired, patients may be required to have dialysis and, eventually, a kidney transplant.
Diagnosis
Fabry Disease is typically diagnosed after a blood test. The lab tests for a-GAL activity. If activity is extremely low or no activity is shown, the patient is given the diagnosis. When one family member tests positive for Fabry Disease, other family members should be tested immediately. This is especially important is a child tests positive as the mother is the carrier of the disease. Early diagnosis can improve life expectancy.
Treatment
Fabry Disease is currently treated with enzyme therapy. Patients are given a synthetic enzyme to aid the body in breaking down fats. Symptomatic treatments for pain and impaired kidney function may be required. In severe cases, heart surgery or kidney transplantation may be required.
Life Expectancy
The life span of a patient with Fabry Disease is dependent on several factors, including early treatment, gender and progression of the disease. Most often, patients with the disease have a decreased lifespan due to complications involving the heart and kidneys.
Who is at Risk?
Children born to mothers carrying the altered gene on the X chromosome are at risk for developing Fabry Disease. Male children tend to develop symptoms during childhood, but females, including the carrier, often develop symptoms in adulthood. Typically, symptoms in women are milder than men, but there are cases of women suffering more severe symptoms of the disease.
Symptoms
The most common symptom of Fabry Disease is an unhealthy storage of fat. Fat is often stored in the eyes, kidneys and heart. Patients may feel a burning sensation on the hands or cloudiness of the cornea impairing vision.
Complications
Complications of Fabry Disease are often associated with unhealthy levels of fat. Patients are at increased risk for stroke and heart attack. As the disease progresses, the heart and kidneys may grow larger than normal, further increase the risk of cardiovascular complications. If kidney function is impaired, patients may be required to have dialysis and, eventually, a kidney transplant.
Diagnosis
Fabry Disease is typically diagnosed after a blood test. The lab tests for a-GAL activity. If activity is extremely low or no activity is shown, the patient is given the diagnosis. When one family member tests positive for Fabry Disease, other family members should be tested immediately. This is especially important is a child tests positive as the mother is the carrier of the disease. Early diagnosis can improve life expectancy.
Treatment
Fabry Disease is currently treated with enzyme therapy. Patients are given a synthetic enzyme to aid the body in breaking down fats. Symptomatic treatments for pain and impaired kidney function may be required. In severe cases, heart surgery or kidney transplantation may be required.
Life Expectancy
The life span of a patient with Fabry Disease is dependent on several factors, including early treatment, gender and progression of the disease. Most often, patients with the disease have a decreased lifespan due to complications involving the heart and kidneys.
