Fabry disease is a rare genetic disorder. People who inherit this metabolic disease lack an enzyme that makes it hard for the body to absorb a fatty substance called globotriaosylceramide (Gb3). As a result, Gb3 builds up in the cells and affects the heart, kidneys and gastrointestinal (GI) system. That can lead to all sorts of symptoms that affect quality of life, from an enlarged heart and poor circulation to diarrhea. So, if you have Fabry disease, it’s crucial to see a doctor who specializes in it and can recommend treatments to protect you from kidney and heart damage.

You should also protect the health of your gut. “GI symptoms are very prevalent in many patients with Fabry disease,” says Claire Zar-Kessler, MD, medical director of the pediatric neurogastroenterology program at Massachusetts General Hospital in Boston. While there are still a lot of unknowns about Fabry disease and what eases GI symptoms, new research and better testing are providing some clues. Here’s what you need to know about how to protect your gut if you have Fabry disease.

How Does Fabry Disease Affect Your Gut?

Doctors are just beginning to learn what might be causing all that GI distress, including pain, diarrhea, nausea, and constipation. “One theory is that the accumulation of Gb3 in the cells can affect the blood flow to the GI tract, which can also affect nerve functioning,” Dr. Zar-Kessler says. This nerve damage, known as neuropathy, might be behind the abdominal pain.

Gb3 accumulation can also damage the nerves that activate your digestive system, so food can’t move as efficiently through your intestines, she notes. That can lead to other issues, such as small intestinal bacterial overgrowth, when you have so much bacteria that your GI system is thrown off-balance.

While these symptoms often overlap with the symptoms of other chronic GI conditions, such as irritable bowel syndrome (IBS) and celiac disease, Zar-Kessler says they aren’t related. “It doesn’t seem like patients have a higher likelihood of having celiac disease when they have Fabry disease,” she says. She also adds that people with Fabry disease typically don’t have any colon inflammation — ruling out inflammatory bowel diseases such as Crohn’s — or issues with malabsorption or malnutrition.

But because those GI symptoms can still affect quality of your life, it’s important to manage them. There may be ways to do that, says Dr. Zar-Kessler, even though more research is needed.

What Nutritional Changes Should You Make to Support Your GI System?

Enzyme replacement therapy is the go-to for treating Fabry disease. But, diet may also play an important role in managing symptoms, says Zar-Kessler. “We’re in the infancy of understanding how nutrition can help, because we’re still trying to understand the GI process that’s happening in Fabry disease,” she says.

Because every patient is different, she encourages trying all of these strategies and experimenting to determine which ones work best for you.

Start Eliminating Certain Foods to Figure Out Your Triggers

There are tests for allergies, but finding food sensitivities requires some trial and error. That’s why an elimination diet, such as the low-FODMAP diet, can help. Still, it’s important to eat well when you have Fabry. So, Zar-Kessler cautions people with Fabry not to be too restrictive and to start any type of elimination diet only under the guidance of a nutritionist or doctor.

There is some evidence that these diets can help. In a study published in 2023 in Nutrients, people with Fabry disease who had severe GI symptoms had less indigestion, diarrhea, and constipation after following the low-FODMAP diet.

Limit Fat and Dairy

Because Fabry disease affects the breakdown of fats, limiting fatty foods, such as fried and processed foods, can help ease GI symptoms.

You could also try curbing dairy or trying lactose-free alternatives, suggests Zar-Kesseler. Lactose intolerance is one of the clues doctors look for when diagnosing Fabry, she says. So, taking it out of your diet may help you, she adds.

Avoid Hard-to-Digest and Acidic Foods

Some foods are harder to digest, which can be a problem when you have Fabry disease and lack the enzyme needed to speed them along the GI tract. These can include complex carbohydrates, foods high in insoluble fiber, and even chocolate. Acidic foods can also irritate your intestines and stomach, so avoid citrus, coffee, alcohol, and spicy foods whenever possible.

That’s why it may be easier just to follow the low-FODMAP diet, because most of the foods on it are easy to digest.

Eat Smaller Portions

The smaller your meal, the easier it is for your body to digest it. So, keep your portions small, and eat more often during the day. That may help alleviate diarrhea and gas. Also, try not to eat late at night or right before bed, no matter what the size of the meal, Zar-Kessler recommends. Digestion really slows down at night when you sleep.

Take Supplements

Some over-the-counter supplements can be helpful for people with Fabry disease. These include:

Beano, a gas-reducing remedy that contains alpha-galactosidase-A, the enzyme that’s lacking in Fabry disease. Taking the enzyme three times a day decreased abdominal pain and diarrhea after eight weeks in a study published in June 2020 in Gastroenterology.
Prebiotics and probiotics to protect gut health, Zar-Kessler recommends
Ginger to cut down on queasiness, she suggests
Vitamin D and calcium, because you may not be getting enough if you cut dairy out of your diet

Try an Anti-Inflammatory Diet

Fabry disease may not be causing inflammation in your GI system, but the condition can damage the heart and kidneys, which can then cause inflammation. To lower this overall inflammation, try following a diet that’s high in antioxidants, such as a Mediterranean diet.

“The thought is that there’s some inflammatory process contributing to your symptoms. So, I do have patients who follow the Mediterranean diet and high-antioxidant diets,” Zar-Kessler says. These types of diet reduce oxidative stress, a cause of heart and kidney complications in people with Fabry disease, according to a study published in July 2022 in Frontiers in Nutrition.

Every person with Fabry disease is different, says Zar-Kessler. That’s why it makes sense to experiment. Sooner or later, you may hit on the right combination of foods and supplements that can relieve your GI distress — or maybe even get rid of it altogether.

What to Eat When You Have Fabry Disease