Fulminant Essential Thrombocythemia Associated with Acquired Von Willebrand Syndrome and Bleeding Episodes in a 14-year-old Girl.

Schneider, Conrad; Stutz-Grunder, E; Lüer, Sonja; Keller, Heinz Peter; Kremer Hovinga, Johanna Anna; Ammann, R A; Karow, Axel (2019). Fulminant Essential Thrombocythemia Associated with Acquired Von Willebrand Syndrome and Bleeding Episodes in a 14-year-old Girl. Hämostaseologie, 39(4), pp. 404-408. Thieme 10.1055/s-0039-1679929

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BACKGROUND

Essential thrombocythemia is a chronic myeloproliferative neoplasm. It is extremely rare in children below 15 years of age with an estimated annual incidence of only 0.09 per million. Usually, clinical symptoms associated with essential thrombocythemia are mild or absent.

CASE

Here, we present the case of a 14-year-old female patient fulminantly presenting with acute symptoms comprising visual impairment, palmar and plantar stabbing pain. Blood count revealed massive thrombocytosis of 2373 × 109/L. Bone marrow morphology showed elevated numbers of mature megakaryocytes. Von Willebrand factor activity/antigen ratio was significantly reduced compatible with an acquired Von Willebrand syndrome associated with high platelet counts. Molecular analyses for driver mutations of myeloproliferative neoplasms including JAK2V617F, CALR and MPL were negative. Acute therapy comprising hyperhydration and oxygen supply complemented by acetylsalicylic acid led to amelioration of symptoms. Medication with hydroxycarbamide maintained a significant reduction of platelet counts but had to be reduced or withheld several times due to neutropenia. Repeated bleeding episodes observed in the course were clearly associated with increases in platelet counts above 1200 × 109/L explained by acquired von Willebrand syndrome. Sixteen months after diagnosis, therapy was switched to pegylated interferon and platelet counts could be stabilized without significant side effects.

Item Type:

 Journal Article (Further Contribution)

Division/Institute:

 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Haematology/Oncology
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Hämatologie (Erwachsene)
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Hämatologie / Onkologie (Pädiatrie)
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Hämatologie / Onkologie (Pädiatrie)

UniBE Contributor:

 Schneider, Conrad, Lüer, Sonja, Keller, Heinz Peter, Kremer Hovinga Strebel, Johanna Anna, Karow, Axel

Subjects:

 600 Technology > 610 Medicine & health

ISSN:

 0720-9355

Publisher:

 Thieme

Language:

 English

Submitter:

 Anette van Dorland

Date Deposited:

 12 Sep 2019 11:27

Last Modified:

 02 Mar 2023 23:32

Publisher DOI:

 10.1055/s-0039-1679929

PubMed ID:

 30895567

BORIS DOI:

 10.7892/boris.133103

URI:

 https://boris.unibe.ch/id/eprint/133103

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