Neurofibromatosis type 1(NF-1) is most typically considered a rare skin condition, and people with it have multiple benign tumors of nerves and skin (neurofibromas). The most noticeable symptoms is abnormal pigmentation (cafe-au-lait spots) and/or freckling in atypical locations (armpits, groin).
These patients, however, can have a plethora of other symptoms such as orthopedic problems, hypertension, and learning disabilities. In about half of NF-1 patients, there is a family history of the disease but the other half seems to be the result of a sporadic mutation in the NF1 gene.
In order to develop management guidelines for NF-1, it is imperative that studies be conducted to ascertain which symptoms are most prominent. To that end, Ejerskov and colleagues examined which gastrointestinal symptoms are present in adults with NF-1, and the study was published this week in the Orphanet Journal Of Rare Diseases.
Ejerskov et al asked 175 NT-1 patients and 91 non NT-1 relatives of patients a series of questionnaires about GI symptoms.
They observed that one-third (33.1%) of NT-1 patients fulfilled the diagnostic criteria for functional constipation, irritable bowel syndrome or functional dyspepsia compared to 14.3% in the control group. Further analysis showed that functional constipation and irritable bowel syndrome were the more likely symptoms to impact NF-1 patients.
Table. Prevalence of Gastrointestinal Disorders in NF-1 Patients
|33.1%||14.3%||3.06||P = .001|
Irritable bowel syndrome
|P = .028
P = .028
P = .170
The authors concluded that adults with NF1 have a higher likelihood of having various gastrointestinal problems and the study in adults compliments an earlier study that found similar results in children with NF-1. Of concern to the authors was the high likelihood that NF-1 patients often suffer from chronic constipation that can greatly impact their health and quality of life.