Constipation in adults with neurofibromatosis type 1

Area of Science:

• Gastroenterology
• Genetics
• Clinical Medicine

Background:

• Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder affecting multiple systems.
• Previous research noted gastrointestinal issues like constipation in children with NF1.
• This study focuses on gastrointestinal symptoms in adult NF1 patients.

Purpose of the Study:

• To compare the prevalence of gastrointestinal symptoms in adult NF1 patients versus unaffected relatives.
• To identify specific functional gastrointestinal disorders more common in NF1 patients.

Main Methods:

• Adult NF1 patients and their unaffected relatives were recruited.
• A validated Rome III questionnaire assessed gastrointestinal symptoms via a web-based survey.
• Logistic regression analysis was used to compare symptom prevalence and odds ratios.

Main Results:

• The overall prevalence of functional constipation, irritable bowel syndrome (IBS), or functional dyspepsia was significantly higher in NF1 patients (33.1%) than controls (14.3%).
• NF1 patients had a markedly higher likelihood of functional constipation (OR: 3.49) and a slightly higher likelihood of IBS (OR: 2.46) after adjustment.
• No significant difference in functional dyspepsia was observed between groups.

Conclusions:

• Gastrointestinal symptoms, especially constipation, are more prevalent in adults with NF1 compared to controls.
• The high prevalence of constipation in NF1 suggests it is an intrinsic part of the disorder, not merely functional.