Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month Old: Diagnosing and Managing an Ultra-rare Disorder.

Wyatt, Kirk D; Kohorst, Mira A; Coon, Lea M; Hurley, Rachel M; van Dorland, Hendrika Anette; Arndt, Carola A S (2021). Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month Old: Diagnosing and Managing an Ultra-rare Disorder. Journal of pediatric hematology/oncology, 43(4), e577-e579. Wolters Kluwer Health 10.1097/MPH.0000000000001830

[img]
Preview
Text
Hereditary_Thrombotic_Thrombocytopenic_Purpura_in.97219__1_.pdf - Published Version
Available under License Publisher holds Copyright.

Download (255kB) | Preview

Hereditary thrombotic thrombocytopenic purpura is an ultra-rare disorder caused by biallelic mutations in the ADAMTS13 gene. Because it can be difficult to diagnose, plasma ADAMTS13 activity assessment should be considered in patients with thrombocytopenia, anemia, and schistocytes on peripheral blood smear. We present the diagnostic evaluation of a patient with hereditary thrombotic thrombocytopenic purpura. Genetic testing revealed one known pathogenic mutation and one novel mutation of ADAMTS13 classified as likely pathogenic on the basis of parental genetic testing and in silico analyses. We further discuss off-label use of prophylactic plasma-derived Factor VIII (Koate-DVI) and the benefit of rare disease registries.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory

UniBE Contributor:

van Dorland, Hendrika Anette

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1536-3678

Publisher:

Wolters Kluwer Health

Language:

English

Submitter:

Pierrette Durand Lüthi

Date Deposited:

11 Jan 2021 11:17

Last Modified:

03 Jun 2021 02:30

Publisher DOI:

10.1097/MPH.0000000000001830

PubMed ID:

32496441

BORIS DOI:

10.48350/150908

URI:

https://boris.unibe.ch/id/eprint/150908

Actions (login required)

Edit item Edit item
Provide Feedback