Ehlers-Danlos syndrome as a cause of fatal obstetric complications
Background. The vascular type of Ehlers–Danlos syndrome is of the greatest importance in the practice of an obstetrician/gynecologist, since it is accompanied by various obstetric and general medical problems that are often life-threatening. The incidence is 1:5,000 to 1:250,000, depending on the form and severity of the disease; the mild forms of the disease are more commonly recorded; its subtle forms are not always diagnosed in childhood, but usually when specific complications appear.Malgina G.B., Nesterov V.F., Erofeev E.N., Makarov R.A., Leshchinskaya A.Yu., Krokhaleva Ya.M., Kovalev A.S., Kovalev V.V., Belomestnov S.R.
Case report. Clinical cases demonstrate difficulties in diagnosing and predicting maternal outcomes in patients with Ehlers–Danlos syndrome. Currently, there is no consensus on safe delivery in patients with Ehlers–Danlos syndrome, since any surgical intervention in this category of patients is fraught with bleeding associated with spontaneous ruptures of the defective vascular wall. Due to the difficulty of predicting fatal complications of Ehlers–Danlos syndrome in obstetric patients, any description of the clinical case is useful for obstetricians/gynecologists, angiosurgeons, and anesthesiologists/resuscitators.
Conclusion. Based on the results of the two cases described above, the authors believe that for a successful pregnancy outcome in these patients, one should pay attention to the major and minor phenotypic signs of Ehlers–Danlos syndrome and, if there is a little suspicion, recommend a molecular genetic study of type III collagen genes at the stage of pregnancy planning, as well as a consultation with a vascular surgeon and a geneticist. Planned abdominal delivery is recommended for patients with a confirmed diagnosis in a third-level perinatal center with the participation of a multidisciplinary team: highly skilled obstetricians/gynecologists, a team of vascular surgeons, and a team of anesthesiologists and transfusiologists.
Keywords
Ehlers–Danlos syndrome
obstetric bleeding
References
- Румянцев А.Г., Масчан А.А., ред. Федеральные клинические рекомендации по диагностике и лечению синдрома Элерса–Данло. М.: ФГБУ «ФНКЦ ДГОИ имени Дмитрия Рогачева» МЗ РФ, Национальное общество детских гематологов, онкологов России; 2014. 9с. [Rumyantsev A.G., Maschan A.A., ed. Federal Clinical Guidelines for the Diagnosis and Treatment of Ehlers–Danlo Syndrome. M.: National Medical Research Center for Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation, National Society of Pediatric Hematologists, Oncologists of Russia, 2014. 9 p. (in Russian)].
- Арсентьев В.Г., Кадурина Т.И., Аббакумова Л.Н. Новые принципы диагностики и классификации синдрома Элерса–Данло. Педиатр. 2018; 9(1): 118-25. https://dx.doi.org/10.17816/PED91118-125. [Arsentyev V.G., Kadurina T.I., Abbakumova L.N. New principles of diagnosis and classification of Ehlers–Danlo syndrome. Pediatrician. 2018; 9(1): 118-25. (in Russian)]. https://dx.doi.org/10.17816/PED91118-125.
- Malfait F., Francomano C., Byers P., Belmont J., Berglund B., Black J. et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am. J. Med. Genet. C. Semin. Med. Genet. 2017; 175(1): 8-26. https://dx.doi.org/10.1002/ajmg.c.31552.
- Аргунова Е.Ф., Иванова О.Н., Гуринова Е.Е., Алексеева С.Н. Синдром Элерса–Данло у ребенка 6 лет. Тихоокеанский медицинский журнал. 2014; 2: 105-6. [Argunova E.F., Ivanova O.N., Gurinova E.E., Alekseeva S.N. Ehlers–Danlo syndrome in a child of 6 years. Pacific Medical Journal. 2014; 2: 105-6. (in Russian)].
- Макаров А.Х., Ельчинова Г.И., Галкина В.А., Куцев С.И., Зинченко Р.А. Распространенность синдрома Элерса–Данло в ряде популяций России. Современные проблемы науки и образования. 2016; 3: 2. Available at: http://scienceeducation.ru/ru/article/view?id=24395 [Makarov A.Kh., Yelchinova G.I., Galkina V.A., Kutsev S.I., Zinchenko R.A. Prevalence of Ehlers–Danlo syndrome in a number of populations of Russia. Modern problems of science and education. 2016; 3: 2. [Electronic resource]. URL: http://science (in Russian)].
- Трисветова Е.Л., Тябут Т.Д., Нехайчик Т.А., Севрук Т.В., Пименова Т.Н., Юдина О.А., Шишко В.И., Шкет А.П. Диагностика и лечение наследственных и многофакторных нарушений соединительной ткани. Национальные клинические рекомендации. Минск: Министерство здравоохранения Республики Беларусь; 2014: 25-8. [Trisvetova E.L., Tyabut T.D., Nekhaychik T.A., Sevruk T.V., Pimenova T.N., Yudina O.A., Shishko V.I., Shket A.P. Diagnostics and treatment of hereditary and multifactorial disorders of connective tissue: National Clinical Recommendations of the Ministry of Health of the Republic of Belarus. Minsk. 2014: 25-8. (in Russian)].
- 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. https://dx.doi.org/10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o.
- Наследственные нарушения соединительной ткани в кардиологии. Диагностика и лечение. Российские рекомендации (I пересмотр). Российский кардиологический журнал. 2013; 18(1, Приложение1): 5-32. [Hereditary disorders of connective tissue in cardiology. Diagnostics and treatment. Russian recommendations (1st revision). Russian Journal of Cardiology. 2013; 18(1, Suppl 1): 5-32. (in Russian)]. https://dx.doi.org/10.15829/1560-4071-2013-1s1.
- Адаскевич В.П., Морозова О.В. Классический тип синдрома Элерса–Данло у 56-летнего пациента. Вестник Витебского государственного медицинского университета. 2017; 16(6): 107-13. Adaskevich V.P., Morozova O.V. Classic type of Ehlers–Danlo syndrome in a 56-year-old patient. Bulletin of the VSMU. 2017; 16(6): 107-13. (in Russian)].
- Milewicz D.M. Molecular genetics of Marfan syndrome and Ehlers–Danlos type IV. Curr. Opin. Cardiol. 1998; 13(3): 198-204.
- Brar H.B. Anaesthetic management of a caesarean section in a patient with Marfan's syndrome and aortic dissection. Anaesth. Intensive Care. 2001; 29(1): 67-70. https://dx.doi.org/10.1177/0310057X0102900114.
- Burrows N.P. The molecular genetics of the Ehlers–Danlos syndrome. Clin. Exp. Dermatol. 1999; 24(2): 99-106. https://dx.doi.org/10.1046/j.1365-2230.1999.00427.x.
- Радецкая Л.С. Беременность и мезенхимальные дисплазии (Синдромы Марфана, Элерса–Данло, Рендю–Ослера). Акушерство, гинекология и репродукция. 2015; 9(4): 74-85. [Radetskaya L.S. Pregnancy and mesenchymal dysplasia (Marfan, Ehlers–Danlo, Rendu–Osler syndromes). Obstetrics, gynecology and reproduction. 2015; 9(4): 74-85. (in Russian)]. https://dx.doi.org/10.17749/2070-4968.2015.9.4.074-085.
- Lambaudie E., Depret-Mosser S., Occelli B., Papageorgiou T., Dognin A., Bertrand M. et al. Marfan syndrome and pregnancy. Apropos of 4 cases. Gynecol. Obstet. Fertil. 2002; 30(7-8): 567-75. https://dx.doi.org/10.1016/s1297-9589(02)00379-x.
- Pepin M., Abdalla S.A., Geisthoff U.W., Bonneau D., Plauchu H., McDonald J. et al. Visceral manifestations in hereditary hemorrhagic telangiectasia type 2. J. Med. Genet. 2003; 40(7): 494-502. https://dx.doi.org/10.1136/jmg.40.7.494.
Received 22.12.2020
Accepted 12.04.2021
About the Authors
Galina B. Malgina, Dr. Med. Sci., Associate Professor, Director of Ural Research Institute for the Protection of Motherhood and Infancy, Ministry of Health of Russia, Yekaterinburg, Russia. Tel.: +7(343)371-08-78. E-mail: galinamalgina@mail.ru. ORCID: 0000-0002-5500-6296. 620028, Russia, Yekaterinburg, Repina str., 1.Vitaliy F. Nesterov, PhD (in Medicine), Senior Researcher, Head of Obstetric Physiological Department, Ural Research Institute for the Protection of Motherhood and Infancy, Ministry of Health of Russia, Yekaterinburg, Russia. Tel.: +7(343)371-42-93; +7(912)246-02-60. E-mail: dr.nesterov2014@yandex.ru. ORCID: 0000-0002-5532-6587.
620028, Russia, Yekaterinburg, Repina str., 1.
Eugeniy N. Erofeev, PhD (in Medicine), Head of Clinic, Ural Research Institute for the Protection of Motherhood and Infancy, Ministry of Health of Russia, Yekaterinburg, Russia. Tel.: +7(343)371-42-93; +7(912)246-02-60. Е-mail: omm-erofeev@yandex.ru. 620028, Russia, Yekaterinburg, Repina str., 1.
Roman A. Makarov, PhD (in Medicine), Senior Researcher, Head of the Intensive Care and Intensive Care Unit, Ural Research Institute for the Protection of Motherhood and Infancy, Ministry of Health of Russia, Yekaterinburg, Russia. Tel.: +7(343)371-42-93; +7(912)277-01-41. E-mail: r_makarov_ekb@mail.ru. ORCID: 0000-0002-8067-5643.
620028, Russia, Yekaterinburg, Repina str., 1.
Alla Yu. Leshchinskaya, PhD (in Medicine), Associate Professor of the Department of Surgical Diseases and Cardiovascular Surgery of the Faculty of Medicine and Prevention, Ural State Medical University, Ministry of Health of Russia; Head of the Department of Vascular Surgery, City Clinical Hospital No. 40, Yekaterinburg, Russia.
Tel.: +7(343)240-14-16; +7(912)265-02-37. E-mail: allales75@mail.ru. ORCID: 0000-0002-5815-3486. 620102, Russia, Yekaterinburg, Volgogradskaya str., 189.
Yaroslava M. Krokhaleva, doctor-pathologist, Head of the Department of Pediatric Pathology, Sverdlovsk Regional Pathological Bureau, Yekaterinburg, Russia.
Tel.: +7(343)286-56-78; +7(922)149-97-30. E-mail: Yakobeleva@ya.ru. 620102, Russia, Yekaterinburg, Volgogradskaya str., 185a.
Artem S. Kovalev, correspondence graduate student, Ural Research Institute for the Protection of Motherhood and Infancy, Ministry of Health of Russia, Yekaterinburg, Russia. Tel.: +7(343)371-42-93; +7(965)135-18-35. Е-mail: dr.kova94@yandex.ru. ORCID: 0000-0002-7390-3274. 620028, Russia, Yekaterinburg, Repina str., 1.
Vladislav V. Kovalev, Dr. Med. Sci., Professor, Head of the Department of Obstetrics and Gynecology, Transfusiology, Faculty of Advanced Training and Professional Retraining of Specialists, Ural State Medical University, Ministry of Health of Russia, Yekaterinburg, Russia. E-mail: vvkovalev55@gmail.com. ORCID: 0000-0001-8640-8418.
620028, Russia, Yekaterinburg, Repina str., 3.
Sergey R. Belomestnov, PhD (in Medicine), Associate Professor of the Department of Obstetrics and Gynecology, Transfusiology, Faculty of Advanced Training and Professional Retraining of Specialists, Ural State Medical University, Ministry of Health of Russia, Yekaterinburg, Russia. Tel.: +7(343)214-85-99; +7(912)287-06-03.
E-mail: beldoctor@mail.ru. ORCID: 0000-0002-4031-4907. 620028, Russia, Yekaterinburg, Repina str., 3.
For citation: Malgina G.B., Nesterov V.F., Erofeev E.N., Makarov R.A., Leshchinskaya A.Yu., Krokhaleva Ya.M., Kovalev A.S., Kovalev V.V., Belomestnov S.R. Ehlers-Danlos syndrome as a cause of fatal obstetric complications.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2021; 6: 178-185 (in Russian)
https://dx.doi.org/10.18565/aig.2021.6.178-185
Similar Articles
