Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum

Background: Pseudoxanthoma elasticum (PXE) is an heritable connective tissu e disorder with clinical manifestations of the ocular, dermal, and cardiova scular system. The purpose of this study was to investigate the prevalence of symptomatic intracranial aneurysms (IAs) and ischaemic stroke (IS) in PX E. Methods: The records of 100 patients with PXE were retrieved. All patien ts were contacted and data on complications were collected. The literature was reviewed regarding PXE, ISs, and IAs. Results: No patient with PXE had a symptomatic IA as presenting symptom. One patient presented with an IS. D uring follow-up of 94 of the 100 patients (mean followup 17.1 years, range 1-49 years), none presented a symptomatic IA (3,168 retrospective patient o bservation years and 1,602 prospective patient observation years). Upper ga strointestinal haemorrhage during follow-up occurred in 17 patients, in 1 p atient during aspirin use. One patient has IS as presenting symptom and a r ecurrence during follow-up, and 7 patients had IS during follow-up. All wer e caused by small-vessel disease. The relative risk of IS in PXE under 65 y ears compared with the general population was 3.6 (95% confidence interval 3.3-4.0). Conclusions: On the basis of the currently available data, an ass ociation between symptomatic IAs and PXE is unlikely. However, the incidenc e of IS, due to small-vessel disease, was increased. Antiplatelet therapy i n patients with PXE may lead to a high incidence of upper gastrointestinal haemorrhages. Copyright (C) 2000 S. Karger AG, Basel.