Fabry disease is a rare genetic disease characterized by problems in breaking down a type of fat molecule called globotriaosylceramide (Gb3 or GL-3). Patients have mutations in the GLA gene that provides instructions for making an important enzyme that breaks down these fats. The mutations alter the structure and function of the enzyme, which leads to the buildup of Gb3 inside cells. This causes symptoms such as proteinuria and gastrointestinal problems.
What are the kidney symptoms of Fabry disease?
Patients with Fabry disease often have kidney symptoms. The kidneys filter waste out of the blood, releasing it into the urine. As Fabry disease progresses, it can cause kidney damage, meaning the kidneys cannot work as well as they should. If untreated, this can cause kidney failure.
A “kidney-friendly” diet can help protect the kidneys by reducing the strain they are under. If your symptoms are mild, a dietary change may be enough. For more severe problems, you may need to combine a change in diet with medications.
What are the gastrointestinal symptoms of Fabry disease?
If you have Fabry disease, you may get full too quickly when eating. Diarrhea and cramping are also common. You may feel like you have to use the bathroom urgently and frequently. For many patients, periods of gastrointestinal problems are interspersed with periods of normal digestion, which can be useful for distinguishing symptoms caused by other conditions like irritable bowel syndrome.
You can alleviate some of these digestive problems by making changes to your diet, though in more severe cases, you may also require medication.
What should I eat, and what should I avoid?
Eating a healthy diet is important for everyone, but what constitutes a healthy diet might be different for each person. That’s why it’s important to discuss your dietary needs with your doctor and a registered dietitian.
Because of the kidney symptoms associated with Fabry disease, doctors instruct many patients to eat a “heart-healthy” diet, which is low in fat, salt, and processed sugar. To help reduce proteinuria, doctors generally instruct patients to keep their overall protein intake low and increase their vegetable and fiber intake.
To ease gastrointestinal symptoms, doctors may instruct patients to eat a low-fat diet. Increasing fiber and vegetable intake may also help with diarrhea. If you’re feeling satiated and can’t finish the meals your dietitian recommends, you may need to plan smaller, more frequent meals to ensure you are getting the nutrition you need. If there are meals or meal components you have trouble with (or just don’t like eating), talk to your dietitian about alternatives. There are a lot of options to get the nutrition you need and still have food that tastes good to you.
Last updated: April 24, 2020
Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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