A recent study showed that problems moving food through the gastrointestinal system were not the main cause of gastrointestinal (GI) symptoms in patients with Fabry disease.
This condition, which affects a patient’s quality of life, can result from dysfunction of the nerve cells that control intestinal reflexes.
the study, “Gastrointestinal sensory neuropathy and movement disorders in Fabry disease: symptoms and impact on patient quality of life,” was published. Clinical and translational gastroenterology.
People with Fabry disease are deficient in alpha-galactosidase A (Gal A), an enzyme that breaks down certain fat molecules in cells. As a result, the molecules accumulate to toxic levels and disrupt the function of various organ systems.
Symptoms of the disease include digestive problems, which can include diarrhea, constipation, abdominal pain, and nausea.
It is unclear how these symptoms occur, but they may be related to problems with the movement of food through the digestive system and out of the body, called intestinal motility. Difficulty moving food due to abnormal contractions of the intestinal muscles, or impaired intestinal motility, can be caused by muscle weakness or signal changes in the nerves that control the intestines.
Gastrointestinal symptoms and intestinal motility in Fabry disease
Scientists from the United States and Israel described the results of a study. Clinical trial (NCT02798458) This study investigated the effects of gastrointestinal symptoms, intestinal motility disorders, and quality of life on 48 patients with Fabry disease (28 women, 20 men, median age 47) who reported chronic gastrointestinal symptoms. evaluated.
Patients underwent a clinical interview and completed a questionnaire regarding gastrointestinal symptoms and their impact. They also completed research on wireless motility capsules that transmit data as they are swallowed and travel through the gastrointestinal tract.
The most common non-GI symptom was neurological involvement in 95.8% of patients.
Neurological symptoms and gastrointestinal symptoms were also the symptoms with the earliest age of onset, with median ages of 9 and 12 years, respectively. Gastrointestinal symptoms began much earlier than certain other Fabry complications, such as cardiovascular disease and hearing.
The most commonly reported gastrointestinal symptoms were abnormal bowel habits (87.5%) and abdominal pain (81.3%). Men reported higher rates and severity of diarrhea, whereas female patients had higher rates and severity of constipation and bloating, and more frequent postprandial dyspepsia and acid reflux.
Despite this high symptom burden, only 34% of participants in the capsule study had some type of movement disorder. This included delays in transit through the stomach (stomach; 10.6%), small intestine (6.4%), and colon (21.3%). Small intestinal motility problems were correlated with nausea/vomiting, early satiety at mealtimes, acid reflux, and overall gastrointestinal symptom burden. Colonic motility problems were significantly associated with constipation.
Some patients (38%) showed signs of exaggerated gastrocolic reflexes or increased colonic motility that occurs after meals, with diarrhea.
Nervous and digestive problems
According to the researchers, the lack of movement disorders across patients highlights that many of the gastrointestinal symptoms overlap with other disorders of gut-brain interaction, and particularly in this group, neurological disorders. Considering the high rate of gastrointestinal involvement, this suggests that gastrointestinal symptoms may be secondary to neurological problems. .
Many gastrointestinal symptoms have been found to affect aspects of Fabry disease patients’ lives and are associated with depression, anxiety, and reduced work productivity. Patients who had fewer than three bowel movements per week had a lower quality of life than other patients in several areas assessed.
Still, GI symptoms did not correlate with measures of overall Fabry disease severity, indicating that “current Fabry scores underestimate the impact of GI symptoms on patients with Fabry disease.” write the researchers, calling their study the largest “study” to date. While examining gastrointestinal symptoms in detail, total intestinal motility is also measured. ”
The researchers said future research should focus on the effects of drugs on bacterial growth in the intestines and gastrointestinal symptoms. “Although the importance of gastrointestinal symptoms is clear from our findings, further research into the mechanisms of gastrointestinal symptoms is needed to better inform appropriate treatments,” the researchers said.