Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Adult Collagen Type III / genetics Ehlers-Danlos Syndrome / diagnosis Female Genetic Variation Humans Male Middle Aged Retrospective Studies Sensitivity and Specificity Tertiary Care Centers
Ehlers-Danlos syndrome diagnosis genetic testing patient selection vascular disease

Journal

Circulation. Genomic and precision medicine
ISSN: 2574-8300
Titre abrégé: Circ Genom Precis Med
Pays: United States
ID NLM: 101714113

Informations de publication

Date de publication:
03 2019
Historique:
entrez: 29 3 2019
pubmed: 29 3 2019
medline: 4 6 2020
Statut: ppublish

Résumé

Vascular Ehlers-Danlos syndrome is a rare inherited connective tissue disease secondary to mutations within the COL3A1 gene. The diagnosis of vascular Ehlers-Danlos syndrome is challenging, and patient selection for genetic testing relies on diagnostic criteria, which have never been evaluated. All patients seen at a dedicated tertiary referral center for a suspicion of vascular Ehlers-Danlos syndrome between January 2001 and March 2016 were retrospectively included in a diagnostic accuracy study. Major and minor diagnostic criteria of the Villefranche classification were tested for sensitivity, specificity, positive and negative predictive values, according to results of genetic testing. N=519 patients were eligible for analysis dividing into n=384 probands and n=135 relatives. A pathogenic COL3A1 variant was identified in n=165 (31.8%) patients. The Villefranche criteria were met for n=248 patients with a sensitivity of 79% (95% CI, 0.72-0.85) and a negative predictive value of 87% (95% CI, 0.83-0.91). Diagnostic accuracy was highest for symptomatic probands (sensitivity 92%; negative predictive value 95%) with limited specificity (60%). Probands ≤25 years had the worst diagnostic performance. The revised diagnostic Criteria (2017) were less accurate than the Villefranche classification (overall diagnostic odds-ratio, 4.17 versus 7.8; probands diagnostic odds-ratio, 4.04 versus 18.1; and probands ≤25 years diagnostic odds-ratio, 2.36 versus 5.1) mainly due to a lack of sensitivity. The Villefranche criteria provide accurate detection of symptomatic probands in specialized practice but have limited specificity. The revised diagnostic criteria for vascular Ehlers-Danlos syndrome have increased specificity, but its overall performance is poorer. The early clinical diagnosis of probands without family history is not addressed by both diagnostic classifications.

Sections du résumé

BACKGROUND
Vascular Ehlers-Danlos syndrome is a rare inherited connective tissue disease secondary to mutations within the COL3A1 gene. The diagnosis of vascular Ehlers-Danlos syndrome is challenging, and patient selection for genetic testing relies on diagnostic criteria, which have never been evaluated.
METHODS
All patients seen at a dedicated tertiary referral center for a suspicion of vascular Ehlers-Danlos syndrome between January 2001 and March 2016 were retrospectively included in a diagnostic accuracy study. Major and minor diagnostic criteria of the Villefranche classification were tested for sensitivity, specificity, positive and negative predictive values, according to results of genetic testing.
RESULTS
N=519 patients were eligible for analysis dividing into n=384 probands and n=135 relatives. A pathogenic COL3A1 variant was identified in n=165 (31.8%) patients. The Villefranche criteria were met for n=248 patients with a sensitivity of 79% (95% CI, 0.72-0.85) and a negative predictive value of 87% (95% CI, 0.83-0.91). Diagnostic accuracy was highest for symptomatic probands (sensitivity 92%; negative predictive value 95%) with limited specificity (60%). Probands ≤25 years had the worst diagnostic performance. The revised diagnostic Criteria (2017) were less accurate than the Villefranche classification (overall diagnostic odds-ratio, 4.17 versus 7.8; probands diagnostic odds-ratio, 4.04 versus 18.1; and probands ≤25 years diagnostic odds-ratio, 2.36 versus 5.1) mainly due to a lack of sensitivity.
CONCLUSIONS
The Villefranche criteria provide accurate detection of symptomatic probands in specialized practice but have limited specificity. The revised diagnostic criteria for vascular Ehlers-Danlos syndrome have increased specificity, but its overall performance is poorer. The early clinical diagnosis of probands without family history is not addressed by both diagnostic classifications.

Identifiants

DOI: 10.1161/CIRCGEN.117.001996 PMID: 30919682
pubmed: 30919682
doi: 10.1161/CIRCGEN.117.001996
doi:

Substances chimiques

COL3A1 protein, human 0
Collagen Type III 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e001996

Auteurs

Pierrick Henneton (P)

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.).
Médecine Interne et Maladies Vasculaires, Hôpital Saint-éloi, Centre Hospitalier Régional Universitaire de Montpellier (P.H.).

Juliette Albuisson (J)

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.).
Institut national de la santé et de la recherche médicale, U970, Paris centre de Recherche Cardiovasculaire-PARCC (J.A., A.L., X.J., M.F.).
Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, France (J.A., S.A., A.L., X.J., M.F.).

Salma Adham (S)

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.).
Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, France (J.A., S.A., A.L., X.J., M.F.).

Anne Legrand (A)

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.).
Institut national de la santé et de la recherche médicale, U970, Paris centre de Recherche Cardiovasculaire-PARCC (J.A., A.L., X.J., M.F.).
Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, France (J.A., S.A., A.L., X.J., M.F.).

Jean Michael Mazzella (JM)

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.).

Xavier Jeunemaitre (X)

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.).
Institut national de la santé et de la recherche médicale, U970, Paris centre de Recherche Cardiovasculaire-PARCC (J.A., A.L., X.J., M.F.).
Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, France (J.A., S.A., A.L., X.J., M.F.).

Michael Frank (M)

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.).
Institut national de la santé et de la recherche médicale, U970, Paris centre de Recherche Cardiovasculaire-PARCC (J.A., A.L., X.J., M.F.).
Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, France (J.A., S.A., A.L., X.J., M.F.).

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Accuracy of Clinical Diagnostic Criteria for...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Scléroprotéines › Protéines de la matrice extracellulaire › Collagène › Collagènes fibrillaires › Collagène de type III › Accuracy of Clinical Diagnostic Criteria for...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies génétiques de la peau › Syndrome d'Ehlers-Danlos › Accuracy of Clinical Diagnostic Criteria for...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Accuracy of Clinical Diagnostic Criteria for...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Accuracy of Clinical Diagnostic Criteria for...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Accuracy of Clinical Diagnostic Criteria for...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Accuracy of Clinical Diagnostic Criteria for...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Sensibilité et spécificité › Accuracy of Clinical Diagnostic Criteria for...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Établissements de santé › Hôpitaux › Centres de soins tertiaires › Accuracy of Clinical Diagnostic Criteria for...