Scientists urge pain specialists to be on lookout for Fabry disease
Screening programs in France led to 1 in 1,000 people being diagnosed
Programs that systematically tested for Fabry disease in nearly 1,000 people with chronic pain at centers in France led to a diagnosis in one individual, a new study reports.
The low prevalence suggests systematic testing for Fabry in chronic pain patients “does not seem relevant,” researchers wrote. Nonetheless, to minimize the diagnostic delay for patients, “pain specialists need to be aware of main features of FD [Fabry disease], including pain characteristics.”
The study, “Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies,” was published in the European Journal of Pain.
Chronic pain is a common symptom of Fabry disease. Some studies have investigated whether routine screening of people with other possible Fabry complications such as kidney disease can help detect patients with the disorder. Such programs could theoretically help simplify the process of getting a diagnosis, which is often long and arduous for patients. However, there haven’t been any previous studies screening for Fabry in people with unexplained chronic pain.
To fill this knowledge gap, researchers analyzed data from two exploratory studies: DOUFAB (NCT01178164), which was conducted at a single center in France from 2010 to 2012, and DOUFABIS (NCT02450604), which ran at several French centers from 2015 to 2020.
893 people underwent genetic analyses
Across these two studies, a total of 893 people with unexplained chronic pain were tested for possible Fabry disease using genetic analyses, followed by biochemical tests to confirm the diagnosis.
One patient, a 63-year-old woman, was ultimately diagnosed with Fabry. This patient’s symptoms included paresthesia (tingling or pins-and-needles sensations) in her hands and feet, as well as bouts of burning pain in her arms and persistent feelings of weakness and fatigue. None of the other screened patients were found to have Fabry disease.
“The search for [Fabry disease] in nearly 1000 patients followed in chronic pain care and treatment expert centers led to the diagnosis of [Fabry disease] in one patient,” the researchers wrote.
The scientists noted the prevalence of about 1 out of every 1,000 is comparable to the low-end prevalence of Fabry in programs that have screened people with other possible Fabry symptoms such as kidney failure.
Overall, systematic screening for Fabry in people with unexplained chronic pain is probably not advisable unless patients show other signs of Fabry or have risk factors like a family history of the disease, the researchers wrote. Nonetheless, they stressed that clinicians managing people with chronic pain should be aware of signs that might point to Fabry disease so that rare cases are not missed.
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