Abstract
Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports. In three previously published studies, the frequency of constipation in patients with NF1 has been found to be as high as 30%. In this study, associations between the frequency of constipation and NF1 disease severity and NF1 mutational spectrum were investigated. Among 277 patients with NF1, 49 had constipation. The highest rate of constipation was found among patients with a high perception of NF1 illness burden, and patients with constipation had a significantly higher NF1 illness burden when comparing the “not bothered” and the “very bothered” (p = 0.013). We found no significant association between constipation and the remaining measures on severity of NF1, nor between constipation and genetic variants. When observing the NF1 mutational spectrum, one variant (c.1013A>G (p.Asp338Gly/p.?) was identified in three patients with constipation of which two patients were related. The variant c.2970_2972delAAT (p.Met992del) associated with a mild NF1 phenotype was identified in two related patients with constipation. This study is the first to explore the association between symptoms of constipation, NF1 severity, and NF1 mutational spectrum. The results suggest an association between constipation and a high degree of illness burden. Awareness of this association among physicians could lead to more patients with NF1 being diagnosed with constipation. Constipation impacts on quality of life, hence a timely diagnosis and treatment will improve quality of life.
Highlights
Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease
We have recently reported that children, adolescents, and adults with NF1 had a significantly higher frequency of gastrointestinal symptoms relating to constipation compared to unaffected relatives; the adult odds ratio was 3.80; 95% CI 1.27–11.31, and the children/ adolescent odds ratio was 6.4; 95% CI 1.45–28.2414,15
We aimed to investigate the association between NF1 disease severity and the frequency of constipation in patients with NF1
Summary
Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports. Associations between the frequency of constipation and NF1 disease severity and NF1 mutational spectrum were investigated. This study is the first to explore the association between symptoms of constipation, NF1 severity, and NF1 mutational spectrum. We have recently reported that children, adolescents, and adults with NF1 had a significantly higher frequency of gastrointestinal symptoms relating to constipation compared to unaffected relatives; the adult odds ratio was 3.80; 95% CI 1.27–11.31, and the children/ adolescent odds ratio was 6.4; 95% CI 1.45–28.2414,15. We aimed to investigate the association between NF1 disease severity and the frequency of constipation in patients with NF1. We explored potential associations between constipation and the NF1 mutational spectrum
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