Warfarin embryopathy

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Classification according to ICD-10
Q86 Congenital malformation syndromes due to known external causes, not elsewhere classified
Q86.2 Warfarin embryopathy
ICD-10 online (WHO version 2019)

As warfarin embryopathy - broader than warfarin syndrome - is one of chondrodysplasia punctata ähnelnder complex of symptoms referred in children whose mothers in pregnancy - especially during the period of 6 - 12 weeks gestation - with oral anticoagulants such as warfarin treated.

The malformations appear as hypoplasia of the nose and / or developmental disorders of the epiphysis (as in chondrodysplasia punctata ) and other abnormalities.

Synonyms are: coumarin embryopathy; english fetal warfarin syndrome

It was first described in 1966 by P. J DiSaia .

Oral anticoagulants can lead to malformations throughout pregnancy, but in this case these are likely to be at least partially triggered by bleeding in the fetus , since oral anticoagulants, unlike heparin, cross the placenta . Here, the central nervous system and eyes are particularly affected and the focus is on optic atrophy , microcephaly and fetal developmental disorders.

However, with the exception of the period mentioned and the last weeks of pregnancy (risk of premature placenta detachment ) , their intake by pregnant women is described in a review by Chan et al. classified as sufficiently safe if there is an absolute indication for anticoagulation in the pregnant woman, especially since oral anticoagulation achieves better results than those with heparins or low molecular weight heparins .

Clinical manifestations

Diagnostic criteria are:

  • Nasal hypoplasia with sunken nasal roots, forward nostrils and notches, narrow nostrils with respiratory problems in many newborns
  • Point to speckled calcifications of the epiphyses in the axial skeleton, proximal femur, in the heel bone in the first year of life
  • in half of those affected extremity hypoplasia , rhizomelia , prenatal dystrophy

Eye changes, developmental delays and other less common malformations can also occur.

Diagnosis

The diagnosis can already be suspected intrauterine by fine ultrasound .

In the ICD-10 , warfarin embryopathy with Q86.2 is classified under “congenital malformation syndromes due to known external causes that are not classified elsewhere”.

Differential diagnosis

A distinction must be made between Keutel syndrome , the hereditary combined deficiency of vitamin K-dependent coagulation factors , chondrodysplasia with brachytelephalangia .

literature

  • WS Chan: What is the optimal management of pregnant women with valvular heart disease in pregnancy? In: Haemostasis. Volume 29 Suppl S1, December 1999, ISSN  0301-0147 , pp. 105-106, doi: 10.1159 / 000054124 , PMID 10629416 (review).
  • WS Chan, S. Anand, JS Ginsberg: Anticoagulation of pregnant women with mechanical heart valves: a systematic review of the literature. In: Archives of internal medicine. Volume 160, Number 2, January 2000, ISSN  0003-9926 , pp. 191-196, PMID 10647757 (review).

Individual evidence

  1. ↑ Embryopathy due to orally administered anticoagulants. In: Orphanet (Rare Disease Database).
  2. ↑ PJ DiSaia: Pregnancy and delivery of a patient with a Starr-Edwards mitral prosthesis valva. Report of a case. In: American Journal of Obstetrics and Gynecology , Vol. 28, 1966, p. 469
  3. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  4. ^ P. Gupta, S. Kumar, KK Roy, JB Sharma, N. Singh: Prenatal diagnosis of warfarin embryopathy using three-dimensional ultrasound. In: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. Vol. 111, No. 2, November 2010, pp. 184-185, doi: 10.1016 / j.ijgo.2010.06.018 , PMID 20719312 .
  5. ↑ H. Wainwright, P. Beighton: Warfarin embryopathy: fetal manifestations. In: Virchow's archive: an international journal of pathology. Vol. 457, No. 6, December 2010, pp. 735-739, doi: 10.1007 / s00428-010-0982-9 , PMID 20922410 .
  6. ↑ Orphanet combined vitamin K-dependent coagulation factor deficiency

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