Fabry disease is a rare medical condition that affects how fat is broken down in the body. People with this disorder lack a certain enzyme, which can lead to an excess of fat within the blood, as well as other bodily tissues. The two types of Fabry disease correspond to when the condition occurs and the severity of its health effects.
With classic Fabry disease, symptoms typically occur in children and teens. In fact, some symptoms can sometimes occur as early as age two. With early onset forms of the condition, symptoms tend to be more severe than with atypical types of the condition. Symptoms may include:
More serious complications can also occur, including heart problems (such as stroke) and kidney dysfunction.
With atypical Fabry disease, symptoms may not occur until a person is in their 30s. Additionally, symptoms tend to be milder than when the condition causes effects in childhood. People with the late-onset form still carry a risk of heart and kidney problems, but this risk is much lower than people who develop the classic type.
It’s possible to replace the missing enzyme to improve the dissolution of fat in the body. With this treatment, replacement enzymes are administered intravenously every two weeks.
People with Fabry disease can also receive oral chaperone therapy. So-called chaperones can repair the faulty enzymes within the body to improve their function. Chaperone therapy entails taking a pill each day to manage the effects of Fabry disease.