Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia

Conclusions. Patients with hereditary hemorrhagic telangiectasia genotype ALK-1 (HHT2-ALK-1) with nonsense mutation demonstrated tendentially higher health-related quality of life (HR-QOL) scores than patients with HHT with genotype ENG (HHT1-ENG) with missense mutation. Objective. HHT, also known as Osler-Weber-Rendu syndrome, comprises different expressions depending on genetic type and mutation type. The influence of HHT type on HR-QOL has not been established and is addressed in this paper. Patients and methods. A total of 94patients with confirmed diagnoses of HHT (Curaçao criteria) participated in this study. EDTA (ethylene diamine tetraacetic acid) blood samples of 24patients were sequenced genetically into genotype HHT1 (ENG) vs HHT2 (ALK-1) and mutation type missense vs nonsense. HR-QOL was assessed with the German Short Form 36Health Survey (SF-36). Results. HHT2 patients (genotype ALK-1) demonstrated significantly higher physical component scores than HHT1 patients (effect size d=0.62). Patients with genotype ENG (HHT1) with nonsense mutations showed significantly higher mental component scores than patients with missense mutations (effect size=0.79).