Difficulties in diagnosing secondary vitamin K-dependent coagulopathy in children as an example of a clinical case

A vitamin K deficiency is one of the most common causes of increased bleeding associated with disorders of coagulation path of hemostasis in newborns and children of first year of life. Coagulopathy is a manifestation of vitamin K deficiency by the time of birth or due to secondary causes. In the latter case, we should not forget about the more rare causes of vitamin K dependent coagulopathy in children. As an example, the article presents the case of a patient at 6 month of age with intracranial hemorrhage on the background of the secondary deficiency of vitamin K. The child had severe coagulopathy, recurrent course за the disease and resistance to oral therapy with menadione sodium bisulfite, which led to the idea of the presence of secondary coagulopathy. After carrying out the targeted sequencing the child was revealed with pathological changes in the gene ABCB11, which are described in the 2nd type of familial syndrome of intrahepatic cholestasis, established the true reason for the deficiency of vitamin K was established. The girl’s therapy was optimized, by which clinical and laboratory manifestations of hemorrhagic disease of newborns were leveled.

Thus, a comprehensive examination of children with recurrent bleeding associated with vitamin K deficiency due to unclear etiology can indicate the true cause of the disease. 

1. Zhang B., McGee B., Yamaoka J.S. et al. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 2006;107(5):1903–7. doi: 10.1182/blood-2005-09-3620.

2. Нароган М.В., Карпова А.Л., Строева Л.Е. Витамин К-дефицитный геморрагический синдром у новорожденных и детей первых месяцев жизни. Неонатология: новости, мнения, обучение 2015;3:74–82. [Narogan M.V., Karpova A.L., Stroeva L.E. Vitamin K deficiency bleeding in newborns and children during the first months of life. Neonatologiya: novosti, mneniya, obuchenie = Neonatology: News, Opinions, Training 2015;3:74–82. (In Russ.)].

3. Ardell S., Offringa M., Soll R. Prophylactic vitamin K for the prevention of vitamin K deficiency bleeding in preterm neonates. Cochrane Database of Systemic Reviews, 2010.

4. Неонатология. Национальное руководство. Краткое издание. Под ред. акад. РАМН Н.Н. Володина. М.: ГЭОТАР-Медиа, 2013. 896 с. [Neonatology. National leadership. Short edition. Ed. by acad. RAMS N.N. Volodin. M.: GEOTAR-Media, 2013. 896 s. (In Russ.)].

5. Van Hasselt P.M., de Koning T.J., Kvist N. et al.; Netherlands Study Group for Biliary Atresia Registry. Prevention of vitamin K deficiency bleeding in breastfed infants: Lessons from the Dutch and Danish biliary atresia registries. Pediatrics 2008;121(4):e857–63. doi: 10.1542/peds.2007-1788.

6. Suchy F.J. Neonatal cholestasis. Pediatr Rev 2004;25(11):388–96.

7. Поляк М.Е., Метелин А.В., Коротеева Н.А. и др. Случай ДНК- диагностики и медико-генетического консультирования прогрессирующего семейного внутрипеченочного холестаза II типа. Клиническая и экспериментальная хирургия. Журнал им. акад. Б.В. Петровского 2015;1:36–41. [Polyak M.E., Metelin A.V., Koroteeva N.A. et al. A case of DNA diagnostic and genetic counseling of progressive familial intrahepatic cholestasis. Klinicheskaya i eksperimentalnaya khirurgiya. Zhurnal im. akad. B.V. Petrovskogo = Clinical and Experimental Surgery. Petrovsky Journal 2015;1:36–41. (In Russ.)].

8. Hubbard D., Tobias J.D. Intracerebral hemorrhage due to hemorrhagic disease of the newborn and failure to administer vitamin K at birth. South Med J 2006;99(11):1216– 20. doi: 10.1097/01.smj.0000233215.43967.69.

9. American Academy of Pediatrics Committee on Fetus and Newborn. Controversies concerning vitamin K and the newborn. American Academy of Pediatrics Committee on Fetus and Newborn. Pediatrics 2003; 112(1 Pt 1):191–2. PMID: 12837888.