Familial Occurrence and Heritable Connective Tissue Disorders in Cervical Artery Dissection | oneedsvoice

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Familial Occurrence and Heritable Connective Tissue Disorders in Cervical Artery Dissection

key information

source: Neurology

year: 2014

authors: Debette S, Goeggel Simonetti B, Schilling S, Martin JJ, Kloss M, Sarikaya H, Hausser I, Engelter S, Metso TM, Pezzini A, Thijs V, Touzé E, Paolucci S, Costa P, Sessa M, Samson Y, Béjot Y, Altintas A, Metso AJ, Hervé D, Lichy C, Jung S, Fischer U, Lamy C, Grau A, Chabriat H, Caso V, Lyrer PA, Stapf C, Tatlisumak T, Brandt T, Tournier-Lasserve E, Germain DP, Frank M, Baumgartner RW, Grond-Ginsbach C, Bousser MG, Leys D, Dallongeville J, Bersano A, Arnold M

summary/abstract:

OBJECTIVE:
In a large series of patients with cervical artery dissection (CeAD), a major cause of ischemic stroke in young and middle-aged adults, we aimed to examine frequencies and correlates of family history of CeAD and of inherited connective tissue disorders.
METHODS:
We combined data from 2 large international multicenter cohorts of consecutive patients with CeAD in 23 neurologic departments participating in the CADISP-plus consortium, following a standardized protocol. Frequency of reported family history of CeAD and of inherited connective tissue disorders was assessed. Putative risk factors, baseline features, and 3-month outcome were compared between groups.
RESULTS:
Among 1,934 consecutive patients with CeAD, 20 patients (1.0%, 95% confidence interval: 0.6%-1.5%) from 17 families (0.9%, 0.5%-1.3%) had a family history of CeAD. Family history of CeAD was significantly more frequent in patients with carotid location of the dissection and elevated cholesterol levels. Two patients without a family history of CeAD had vascular Ehlers-Danlos syndrome with a mutation in COL3A1. This diagnosis was suspected in 2 additional patients, but COL3A1 sequencing was negative. Two patients were diagnosed with classic and hypermobile Ehlers-Danlos syndrome, one patient with Marfan syndrome, and one with osteogenesis imperfecta, based on clinical criteria only.
CONCLUSIONS:
In this largest series of patients with CeAD to date, family history of symptomatic CeAD was rare and inherited connective tissue disorders seemed exceptional. This finding supports the notion that CeAD is a multifactorial disease in the vast majority of cases.

organisation: Lariboisière Hospital, DHU Neurovasc Paris Sorbonne; INSERM Unit Paris; University Paris; Lille University Hospital; Pasteur Institute Lille; INSERM, Bordeaux University; University Hospital Inselspital Bern; Sanatorio Allende; Heidelberg University Hospital; Zürich University Hospital; Institute of Pathology University Hospital Germany; Basel University Hospital; University and University Center for Medicine of Aging and Rehabilitation Basel, Felix Platter Hospital Basel; Helsinki University Central Hospital; University of Brescia; KU Leuven–University of Leuven; VIB–Vesalius Research Center; Paris Descartes University; Sainte-Anne Hospital; University Hospital of Caen; Santa Lucia Hospital; San Raffaele University Hospital; Pitié-Salpêtrière University Hospital; Dijon University Hospital; Istanbul University; Memmingen Hospital; Amiens University Hospital; Ludwigshafen Hospital; Perugia University Hospital; Schmieder-Klinik Heidelberg; Lariboisière Hospital; Referral Center for Fabry Disease and Inherited Disorders of Connective Tissue, CHU Raymond Poincaré (AP-HP); University of Versailles–St Quentin en Yvelines; National Referral Center for Rare Vascular Diseases (M.F.), Hôpital Européen Georges-Pompidou HEGP; Clinic Hirslanden Zürich; IRCCS Foundation C. Besta Neurological Institute

DOI: 10.1212/WNL.0000000000001027

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