Top

Orphanet Journal of Rare Diseases

Published in:

Open Access 01-12-2017 | Research

Constipation in adults with neurofibromatosis type 1

Authors: Cecilie Ejerskov, Klaus Krogh, John R. Ostergaard, Janne L. Fassov, Annette Haagerup

Published in: Orphanet Journal of Rare Diseases | Issue 1/2017

Abstract

Background

Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times are common in children with NF1. The aim of the present study was to investigate and compare the prevalence of gastrointestinal symptoms in adult patients with NF1 to their unaffected relatives serving as the control group. Patients with NF1 were recruited from one of two Danish National Centres of Expertise for NF1 and their unaffected relatives were invited to participate as controls. Gastrointestinal symptoms were assessed with a web-based, self-administered, validated, Rome® III diagnostic questionnaire. Logistic regression was used to estimate the prevalence of functional dyspepsia, IBS and functional constipation in each group and the groups were compared using their odds ratios.

Results

The response rates for patients and controls were 66.4% and 82.4%, respectively. We compared 175 patients, median age 34.2 (IQR = 20.1) and 91 of their unaffected relatives, median age 42.0 (IQR = 12). The overall likelihood of fulfilling the diagnostic criteria for functional constipation, irritable bowel syndrome or functional dyspepsia was 33.1% among patients vs. 14.3% among controls, (odds ratio (OR): 2.97; 95% CI: 1.56–5.66) and after adjustment for age and gender (OR: 3.06; 95% CI: 1.62–5.79). The likelihood of functional constipation was higher among patients (OR: 3.80; 95% CI: 1.27–11.31), and this was still true after adjustment (OR: 3.49; 95% CI: 1.14–10.64). The likelihood of irritable bowel syndrome (OR: 2.29; 95% CI: 0.98–5.33) was evident after adjustment (OR: 2.46; 95% CI: 1.10–5.47), whereas there was no difference in the likelihood of functional dyspepsia (OR: 2.35; 95% CI: 0.67–8.32) after adjustment (OR:2.25; 95% CI: 0.70–7.17).

Conclusions

Overall, having symptoms usually attributed to either functional dyspepsia, IBS or functional constipation is more common in adults with NF1 compared to unaffected relatives. Of the three, the likelihood of constipation is markedly higher. The high prevalence of constipation indicates that it is not functional but part of the NF1 disorder.

OMIM. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {162200}: {29/03/2013}: 2013; Available at: http://omim.org/. Accessed 29 Mar 2011.

Ferner RE. Neurofibromatosis 1. Eur J Hum Genet. 2007;15(2):131–8.CrossRefPubMed

Neurofibromatosis SD. Conference statement. National Institutes of Health consensus development conference. Arch Neurol. 1988;45(5):575–8.CrossRef

Dupuis L, Nezarati MM. Neurofibromatosis type 1 as an example of autosomal dominant inheritance. Pediatr Dermatol. 2001;18(5):445.

Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6(4):340–51.CrossRefPubMed

Pedersen CE, Krogh K, Siggaard C, Joensson IM, et al. Constipation in children with neurofibromatosis type 1. J Pediatr Gastroenterol Nutr. 2013;56(2):229–32.CrossRefPubMed

Heuschkel R, Kim S, Korf B, et al. Abdominal migraine in children with neurofibromatosis type 1: a case series and review of gastrointestinal involvement in NF1. J Pediatr Gastroenterol Nutr. 2001;33(2):149–54.CrossRefPubMed

Drossman DADD. Rome III: New Standard for Functional Gastrointestinal. J Gastrointestin Liver Dis. 2006;15(3):307.

TheRomeFoundation.org. The Rome Foundation, 2015; Available from: http://theromefoundation.org/. Accessed 1 May 2016.

10.

Harris PA, Taylor R, Thielke R, et al. Research electronic data capture [REDCap]--a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377–81.CrossRefPubMed

11.

Suares NC, Ford AC. Prevalence of, and risk factors for, chronic idiopathic constipation in the community: systematic review and meta-analysis. Am J Gastroenterol. 2011;106(9):1582–91. quiz 1581, 1592CrossRefPubMed

12.

Heidelbaugh JJ, Stelwagon M, Miller SA, et al. The spectrum of constipation-predominant irritable bowel syndrome and chronic idiopathic constipation: US survey assessing symptoms, care seeking, and disease burden. Am J Gastroenterol. 2015;110(4):580–7.CrossRefPubMedPubMedCentral

13.

Le Pluart D, Sabate JM, Bouchoucha M, et al. Functional gastrointestinal disorders in 35,447 adults and their association with body mass index. Aliment Pharmacol Ther. 2015;41(8):758–67.CrossRefPubMed

14.

Rasmussen S, Jensen TH, Henriksen SL, et al. Overlap of symptoms of gastroesophageal reflux disease, dyspepsia and irritable bowel syndrome in the general population. Scand J Gastroenterol. 2015;50(2):162–9.CrossRefPubMed

15.

Drossman DA, Li Z, Andruzzi E, et al. U.S. householder survey of functional gastrointestinal disorders. Prevalence, sociodemography, and health impact. Dig Dis Sci. 1993;38(9):1569–80.CrossRefPubMed

Title: Constipation in adults with neurofibromatosis type 1
Authors: Cecilie Ejerskov
Klaus Krogh
John R. Ostergaard
Janne L. Fassov
Annette Haagerup
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2017
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-017-0691-4

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Constipation in adults with neurofibromatosis type 1

Abstract

Background

Results

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2017

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

Are products with an orphan designation for oncology indications different from products for other rare indications? A retrospective analysis of European orphan designations granted between 2002-2012

Does the low prevalence affect the sample size of interventional clinical trials of rare diseases? An analysis of data from the aggregate analysis of clinicaltrials.gov

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Pulmonary hypertension in lymphangioleiomyomatosis: prevalence, severity and the role of carbon monoxide diffusion capacity as a screening method