Common Fabry symptoms often mimic IBS in adults
Patients report higher rates of bloating and nausea in study
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Routine screening for gastrointestinal (GI) issues should be a standard part of clinical care for Fabry disease, according to a new study that found more than 70% of patients experience GI symptoms.
The research highlights that roughly half of adults with the genetic disorder experience moderate to severe digestive problems, which are directly linked to a lower quality of life and increased physical pain.
Abdominal pain is the most frequent complaint. Furthermore, symptoms mirroring irritable bowel syndrome (IBS), such as bloating and nausea, occur significantly more often in the Fabry community than in the general population.
Because these issues are so closely tied to overall disease severity, researchers are urging doctors to implement “routine screening for gastrointestinal symptoms at diagnosis and annually thereafter.”
The study, “Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health,” was published in BMC Gastroenterology.
How fatty deposits impact the digestive system
Fabry is a genetic condition characterized by the abnormal buildup of fatty molecules within cells. While this leads to progressive damage in the heart, kidneys, and nervous system, it also frequently affects the gut.
A recent study suggests that these GI symptoms, including diarrhea, constipation, and vomiting, may stem from dysfunction of nerve cells that regulate gut reflexes.
In the new study, a team led by researchers at Oslo University Hospital in Norway investigated the prevalence and severity of GI symptoms in 35 adults with Fabry. The group was nearly evenly split between men and women, though only the men had the classic form of Fabry disease, which typically begins earlier in life and leads to more severe symptoms.
The researchers used the Rome III questionnaire to assess the patients and found that 71% reported at least one GI symptom. This was a consistent finding across both sexes, though the rate jumped to 89% among men with classic Fabry.
Interestingly, the study found that whether a patient was receiving enzyme replacement therapy or chaperone therapy did not appear to affect the overall prevalence of most GI issues. However, there was one notable exception in that 28% of patients on ERT reported IBS-like symptoms, compared to 70% of those who were untreated.
When compared to a general population group of more than 1,000 people, Fabry patients experienced significantly more bloating, severe nausea, and IBS-like discomfort. While indigestion, diarrhea, and constipation rates were similar to the general public, the intensity of other symptoms set the Fabry group apart.
According to the IBS Severity Scoring System, 83% of patients had at least mild symptoms, while 40% fell into the moderate-to-severe category. Patients reported that dissatisfaction with their bowel habits and the way symptoms interfered with daily life were their most serious burdens.
The data revealed a clear connection between digestive health and total body wellness. Even after adjusting for treatment types, higher scores for IBS symptoms were significantly associated with greater overall disease severity.
Patients with the worst GI distress also reported the lowest scores for physical health-related quality of life and the highest levels of chronic pain.
“Gastrointestinal symptoms are common and significant in men and women with Fabry disease, with over 70% reporting at least one symptom,” the researchers concluded. They added that further research into dietary interventions is needed to help patients better manage these life-disrupting symptoms.
