Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrenceof neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT)

Background, Hereditary haemorrhagic telangiectasia (HHT) is a dominantly in herited disease. HHT is characterized by a wide variety of clinical manifes tations, including pulmonary arteriovenous malformations (PAVMs) and neurol ogical symptoms, Objective. To estimate ii) the prevalence of PAVM, and (ii) the occurrence of neurological symptoms in a geographical well-defined population of HHT p atients, Methods. HHT family members were invited to a clinical examination includin g registration of HHT manifestations, screening for pulmonary arteriovenous malformations and neurological evaluation. Two groups served as controls: (i) first-degree relatives without any signs of HHT: and (ii) age- and gend er-matched controls. Setting, Odense University Hospital. Subjects, HHT patients identified in a cross-sectional family survey carrie d out in the County of Fyn, Denmark. Results. Included in the study were 169 HHT family members representing 24 families. They included both HHT patients and their first-degree relatives. The criteria of HHT were fulfilled in 75 participants; of these, 59 had a screening procedure performed, and PAVMs were demonstrated at pulmonary ang iography (PA) in 18. Seven of the HHT patients had a history of cerebral st roke, compared with none of their healthy first-degree relatives, Conclusion. The prevalence of PAVM was 24% amongst HHT patients. The study confirmed an increased prevalence of neurological symptoms amongst HHT pati ents; the odds ratio was estimated to be 7.6. In order to enable prevention of these complications, screening for PAVM should become an integral part of the medical care for HHT patients.