Type 2B Von Willebrand Disease MimickingAutoimmune Thrombocytopenia in the Neonatal Period

Conclusion: Type 2B VWD may cause a diagnostic problem in the differential diagnosis of neonatal thrombocytopeniaincluding neonatal autoimmune thrombocytopenia.

📌 3 Key Takeaways

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Objective & Hypothesis:Background: Type 2B von Willebrand disease (VWD) is a hereditary bleeding disorder caused by changes in the von Will ebrand factor (VWF), which increases the binding of VWF to platelets.

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Key Findings & Data:Type 2B VWD may present with thrombocytopenia.

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Conclusion & Impact:Conclusion: Type 2B VWD may cause a diagnostic problem in the differential diagnosis of neonatal thrombocytopeniaincluding neonatal autoimmune thrombocytopenia.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Background: Type 2B von Willebrand disease (VWD) is a hereditary bleeding disorder caused by changes in the von Will ebrand factor (VWF), which increases the binding of VWF to platelets. Type 2B VWD may present with thrombocytopenia. Case Report: A four-day-old newborn was brought to the neonatal intensive care unit presenting with bleeding and severethrombocytopenia. The platelet level was 10,000/mm3, and coagulation tests were normal. There were no clinical evidenceof sepsis; therefore, alloimmune or autoimmune thrombocytopenia was suspected. When we found out that her motherand relatives had intermittent thrombocytopenia, advanced tests were performed. Ristocetin cofactor activity was low; type2 VWD was considered. Using low-dose ristocetin, we increased platelet aggregation. Heterozygous c.3946G > A (p.Val 1316Met) mutation was detected, and type 2B VWD was diagnosed. Conclusion: Type 2B VWD may cause a diagnostic problem in the differential diagnosis of neonatal thrombocytopeniaincluding neonatal autoimmune thrombocytopenia.

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Cite This Article

IŞIK, E., ÖZCAN, A., PATIROĞLU, T., ÜNAL, E., YILMAZ, E., ATİK, T., GÖK, V., KARAKÜKÇÜ, M., AYDIN, F. (2022). Type 2B Von Willebrand Disease MimickingAutoimmune Thrombocytopenia in the Neonatal Period. Erciyes Medical Journal, Cilt: 43 - Sayı: 2, 201–203. https://ajindex.com/articles/502299

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