Clinical diagnosis of Ehlers – Danlos syndromes: new classification criteria for 2017


DOI: https://dx.doi.org/10.18565/therapy.2018.6.121-127

E.L. Trisvetova

Belarusian state medical university, 2nd Department of internal medicine, Minsk
Ehlers-Danlos syndromes (SED) as a manifestation of hereditary disorders of the connective tissue are distinguished by the multisystem damage and the variability of symptoms. The diagnostic criteria developed in 1998, which include the description of 6 types of SED, were successfully used for two decades. However, the results of clinical observation, biochemical and molecular studies are supplemented with new knowledge about the syndrome. New international classification of 2017 contains the diagnostic criteria of 13 types of SED, also hyper-mobile type features are revised there.
Keywords: Ehlers-Danlos syndrome, clinical diagnosis, large and small criteria
Read entire article

Literature

  • Bloom L., Byers P., Francomano C., Tinkle B., Malfait F. Steering Committee of The International Consortium on the Ehlers-Danlos Syndromes The international consortium on the Ehlers-Danlos syndromes. Am. J. Med. Genet. C Semin. Med. Genet. 2017;175(1):5-7.
  • Кадурина Т.И., Горбунова В.Н. Дисплазия соединительной ткани. Руководсво для врачей. СПб, 2009. 704 с.
  • Byers P.H., Murray M.L. Heritable collagen disorders: the paradigm of the Ehlers-Danlos syndrome. J. Invest. Dermatol. 2012;132(E1):E6-11.
  • Beighton P., de Paepe A., Danks D., Finidori G., Gedde-Dahl T., Goodman R., Hall J.G., Hollister D.W., Horton W., McKusick V.A. 1988. International nosology of heritable disorders of connective tissue. Berlin. Am. J. Med. Genet. 1986;29:581-94.
  • Beighton P., De Paepe A., Steinmann B., Tsipouras P., Wenstrup R.J. Ehlers–Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am. J. Med. Genet. 1998;77(1):31-7.
  • Malfait F., Francomano C., Byers P., Belmont J., Berglund B., Black J., Bloom L., Bowen J.M., Brady A.F., Burrows N.P., Castori M., Cohen H., Colombi M., Demirdas S., De Backer J., De Paepe A., Fournel-Gigleux S., Frank M, Ghali N., Giunta C., Grahame R., Hakim A., Jeunemaitre X., Johnson D., Juul-Kristensen B, Kapferer-Seebacher I., Kazkaz H., Kosho T., Lavallee M.E., Levy H., Mendoza-Londono R., Pepin M., Pope F.M., Reinstein E., Robert L., Rohrbach M., Sanders L., Sobey G.J., Van Damme T., Vandersteen A., van Mourik C., Voermans N., Wheeldon N., Zschocke J., Tinkle B. The 2017 international classification of the Ehlers-Danlos syndromes. Am. J. Med. Genet. C Semin. Med. Genet. 2017;175(1):8-26.
  • Malfait F., De Paepe A. The Ehlers-Danlos syndrome. Adv. Exp. Med. Biol. 2014; 802:129-43.
  • Bowen J.M., Sobey G.J., Burrows N.P., Colombi M., Lavallee M.E., Malfait F., Francomano C.A. Ehlers-Danlos syndrome, classical type. Am. J. Med. Genet. C Semin. Med. Genet. 2017;175(1):27-39.
  • Schalkwijk J., Zweers M.C., Steijlen P.M., Dean W.B., Taylor G., van Vlijmen I.M., van Haren B., Miller W.L., Bristow J. A recessive form of the Ehlers–Danlos syndrome caused by tenascin-X deficiency. N. Engl. J. Med. 2001;345:1167-75.
  • Schwarze U., Hata R.-I., McKusick V.A., Shinkai H., Hoyme H.E., Pyeritz R.E., Byers P.H. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am. J. Hum. Genet. 2004; 74: 917-30.
  • Shalhub S., Black J.H., Cecchi A.C., Xu Z., Griswold B.F., Safi H.J., Milewicz D.M., McDonnell N.B. Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. J. Vasc. Surg. 2014;60:160-9.
  • Leistritz D.F., Pepin M.G., Schwarze U., Byers P.H. COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genet. Med. 2011;13(8):717-22.
  • Tinkle B., Castori M., Berglund B., Cohen H., Grahame R., Kazkaz H., Levy H. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. Am. J. Med. Genet. Part. 2017;175(1):48-69.
  • Hakim A.J., Grahame R. A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. Int. J. Clin. Pract. 2003;57(3):163-6.
  • Klaassens M., Reinstein E., Hilhorst-Hofstee Y., Schrander J., Malfait F., Staal H., ten Have, Blaauw J., Roggeveen H.C.J., Krakow D., De Paepe A.,van Steensel M.A.M., Pals G., Graham J.M., Schrander-Stumpel C.T.R.M. Ehlers-Danlos Arthrochalasia type (VIIA-B) – expanding the phenotype: from prenatal life through adulthood. Clin. Genet. 2012;82(2):121-30.
  • Damme T.V., Colige A., Syx, D.,Giunta C., Lindert U., Rohrbach M., Aryani O., Alanay Y., Simsek-Kiper PÖ., Kroes H.Y., Devriendt K., Thiry M., Symoens S., De Paepe A., Malfait F. Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. Genet. Med. 2016;18(9):882-91.
  • Rohrbach M., Vandersteen A., Yiş U., Serdaroglu G., Ataman E., Chopra M., Garcia S., Jones K., Kariminejad A., Kraenzlin M., Marcelis C., Baumgartner M., Giunta C. Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet. J. Rare Dis. 2011;6:46.
  • Burkitt-Wright E.M., Porter L.F., Spencer H.L., Clayton-Smith J., Au L., Munier F.L., Smithson. S., Suri M., Rohrbach M., Manson F.D., Black G.C. Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet. J. Rare Dis. 2013; 8: 68.


    • About the Autors

    Evgenia L. Trisvetova, MD, professor of the 2nd Department of internal diseases of the educational institution «Belarusian state medical university». 220116, Belarus, Minsk, 83 Pr. Dzerzhinskogo Str. Tel.: +70172771201. E-mail: trisvet-47@mail.ru

    Back to Content

    Бионика Медиа