Fabry disease is a health condition classified as a lipid storage disorder. It’s a rare genetic disorder caused by GLA gene mutation, which is on the X chromosome. This mutation causes faulty or insufficient production of the alpha-galactosidase A enzyme.
Ultimately, blood circulation problems arise from this enzyme deficiency because globotriaosylceramide, a fatty compound, doesn’t get broken down, but instead accumulates in your blood vessel walls. This unhealthy storage decreases blood circulation by hampering blood flow, causing nourishment problems in the cells they feed.
Although blood circulation problems occur in all your vessels, the small vessels in skin, kidneys, heart and nervous system are particularly affected. This accounts for the painful burning sensation and angiokeratoma, hallmark symptoms of Fabry disease.
Your painful burning sensation symptoms will likely be felt in the hands and feet, which tend to worsen during times of exercise, stress, hot weather and extreme cold. And your angiokeratoma, raised red rash, will likely crop up somewhere between your navel and knees.
Other potential symptoms caused by Fabry disease are:
Gastrointestinal problems frequently occur after eating.
Typically, your painful burning sensation and angiokeratoma symptoms will increase in severity over time because of the continued buildup of globotriaosylceramide. And this blood circulation problem most often occurs in males, yet women who carry the genetic mutation may have symptoms.
Some with Fabry disease have very mild symptoms, while others are saddled with severe complications. Fabry disease complications that might be caused by your progressive blood circulation problems include:
- stroke
- heart attack
- cardiomegaly
- kidney failure
- heart problems
- cardiomyopathy
- mitral valve prolapse
- kidney problems causing proteinuria
- brain blood flow problems causing dizziness, seizures
There’s no cure for Fabry disease. However, enzyme replacement therapy may help limit some of your globotriaosylceramide buildup.
Other treatments are used to combat your blood circulation problems, painful burning sensation, angiokeratoma and other symptoms, for instance:
- analgesics for pain
- dialysis for kidney failure
- low protein diet for kidney problems
- low fat diet for upset stomach problems
- laser treatment for angiokeratoma removal
- metoclopramide for intestinal hyperactivity
- anticonvulsants for painful burning sensation
Avoiding extreme weather helps reduce your chances of painful burning sensation flareups.