GI Problems Common in Neurofibromatosis Type 1

James Radke

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
Odds Ratio
P value

  Functional gastrointestinal
33.1% 14.3% 3.06 P = .001

  Functional constipation
  Irritable bowel syndrome
  Functional dyspepsia
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.

Ejerskov C, Krogh K, Ostergaard JR, Fassov JL, Haagerup A. Constipation in adults with neurofibromatosis type 1. Orphanet J  Rare Dis. 201712:139.
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