Patients with Friedreich ataxia (FA) are more likely to develop inflammatory bowel disease and growth hormone deficiency than those without FA, concludes a recent study. Researchers believe that these associations, which may be coincidental or a result of disease interaction or shared genetic features, warrant further research.
FA is a progressive neurological disease with a broad spectrum of symptoms including weakness, loss of body movement control, and sensory and reflexes loss. Previous research has also identified an elevated prevalence of other clinical symptoms, such as cardiac problems (63 percent), scoliosis (60 percent), diabetes mellitus (32 percent), hearing loss (13 percent), and optic atrophy (13 percent), among others.
In the present study, the scientists evaluated comorbid disease prevalence in 641 patients with FA from several hospitals in the United States, Canada and Australia. The researchers collected medical information from a large natural history study that spanned more than nine years to determine the prevalence of co-occurred medical conditions in FA patients compared to individuals without FA. Their results can help more accurately diagnose less common primary or secondary symptoms of the disease.
They found that FA patients had a higher prevalence of growth hormone deficiency, ulcerative colitis and Crohn’s disease than those without FA. Specifically, FA patients had were 28 times more likely to have growth hormone deficiency, twice as likely to have ulcerative colitis and 2.5 times more likely to have Crohn’s disease.
They also found that inflammatory bowel disease (IBD), which primarily includes Crohn’s disease and ulcerative colitis, was 3.6 times more common in individuals with FA than in the population without FA.
The growth hormone deficiency prevalence results found could be explained by environmental or genetic factors rather than a real association with FA development, the authors said. Also, shared genetic background ancestry could explain IBD prevalence results, since there no biological evidence links IBD with FA.
In this study, researchers did not found any prevalence of epilepsy compared to the general population. However, other studies have suggested an association between epilepsy and FA.
Researchers did not evaluate psychological and psychiatric disorders in this FA population, yet other studies have found depression and affective difficulty to be common among FA patients. Indeed, current clinical care guidelines recommend regular evaluation of FA patients for depression and other psychiatric disorders.
“Physicians should be aware of the higher likelihood of these diseases when treating patients with Friedrich ataxia, and in particular should have a low threshold for investigating growth hormone levels and performing endoscopy for inflammatory bowel disease,” the authors recommended.