Many Friedreich’s ataxia patients experience urinary tract symptoms, bowel problems, and sexual dysfunction, which leads to a lower quality of life, research shows.
The study, “Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia,” was published in the Orphanet Journal of Rare Diseases.
Friedreich’s ataxia stems from lack of frataxin, a protein necessary for proper functioning of mitochondria, the cell’s energy producers.
The symptoms of the disease are wide-ranging. They include movement and balance problems, spasticity or shaking, weakness, heart dysfunction, foot deformities, abnormal curvature of the spine, impaired vision, hearing and speech, and diabetes.
Less common symptoms include lower urinary tract symptoms (LUTS), incontinence, and sphincter disturbances, which have not been extensively studied.
One large study showed that many FA patients exhibit LUTS, which leads to a lower quality of life. Studies involving only a few patients also showed that LUTS was a problem. But in general there has been little research on this subject.
As a result, researchers in England, Ireland, and Belgium decided to study LUTS, bowel and sexual symptoms in FA patients. Part of the effort was correlating the symptoms with other manifestations of the disease and patients’ genetic characteristics. FA is an inherited disease.
They used questionnaires to measure patients’ symptoms, then divided them into four groups. One group — early onset — consisted of patients who developed the disease early. Another group was late onset. The third group consisted of those in the early stage of FA, and the fourth was the late-stage group.
The team then correlated the measures of these symptoms with measures of disease severity.
Eighty percent of the patients reported experiencing LUTS, 64 percent reported bowel symptoms, and 83 percent sexual symptoms.
A key finding was that the symptoms were statistically more likely to co-exist in the same patients. So if a patient were experiencing urinary or bowel symptoms, they were also more likely to experience sexual dysfunction compared with a patient who didn’t have either urinary or bowel symptoms.
Patients with late-onset FA were more likely to develop LUTS than early-onset patients. And patients who had had their disease a long time were more likely to have a higher LUTS score and reduced quality-of-life score due to urinary symptoms.
Interestingly, only 24 percent of the patients had been treated for LUTS, even though there are many medications for the condition, including antimuscarinic agents, intravesical Botox injections, and percutaneous tibial nerve stimulation.
There is a connection between LUTS and sexual dysfunction, and the two issues together led to a much lower quality of life, researchers said. They emphasize the importance of screening for symptoms in these three areas to help Friedreich’s ataxia patients have a better quality of life.
“LUTS, bowel and sexual symptoms are under-recognized, under-discussed and undertreated,” the researchers wrote. “Clarifying whether these symptoms are related to pelvic dysfunction will also allow clinicians [doctors] to target therapies to manage these highly complex patients in a multi-disciplinary setting.”