Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia
Version of Record online: 20 AUG 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Acta Neurologica Scandinavica
Volume 129, Issue 3, pages 192–197, March 2014
How to Cite
Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia. Acta Neurol Scand: 2014: 129: 192–197. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd., , , .
- Issue online: 28 JAN 2014
- Version of Record online: 20 AUG 2013
- Manuscript Accepted: 19 JUN 2013
- Region Syddanmark
- University of Southern Denmark
- cerebral abscess;
- hereditary haemorrhagic telangiectasia;
- pulmonary arteriovenous malformation;
Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess.
To estimate the risk of cerebral abscess among patients with HHT.
All patients with HHT included in the Danish HHT data base, between January 1995 and October 2012, have been clinically evaluated for the presence of neurological symptoms and history of previous cerebral abscess.
A total of 337 patients with HHT have been included in the Danish database. Of these, 264 were screened for the presence of PAVM. In 117 patients, a PAVM was diagnosed; among these, we identified nine patients with a history of cerebral abscess. The prevalence of cerebral abscess among patients with HHT and PAVM was therefore 7.8%. The patients with a history of cerebral abscess were genetically evaluated, and seven had ENG mutations, one had an ALK1 mutation, and in one case, a mutation could not be identified.
Patients with untreated PAVM have a considerable risk of sustaining cerebral abscesses. A cerebral abscess may be the first symptom leading to an HHT diagnosis. Patients with unexplained cerebral abscess should be evaluated for HHT and PAVM.