Thesis Elise Huisman
On 10 September 2026 (10:30 AM), Elise Husiman defended her PhD-thesis "Diagnostic and Therapeutic Challenges in Children with Platelet Disorders' at Erasmus University Rotterdam
Promotores: Prof MH Cnossen MD PhD and prof M de Haas MD PhD
Venue: Senaats zaal, Erasmus Building, Woudestein Campus, Rotterdam
The focus of this thesis is on children with platelet disorders. The aim is to improve the diagnostic algorithms identifying the causes and underlying mechanisms of platelet disorders in order to improve counseling and treatment of children suffering from a platelet disorders.
As a result of this thesis we now know better what bleeding symptoms children with platelet disorders have, as well as what other symptoms and comorbidities children may demonstrate. These symptoms and comorbidities do influence the quality of life of children, but we demonstrated that only very little research has been done in this field.
Furthermore, we investigated the pathophysiology of multiple subgroups of platelet disorders.
To diagnose platelet disorders are often different laboratory tests required. We demonstrated that the combination of tests is better than one single test and especially the implementation of molecular genetic tests in the field of platelet disorders had a strong influence on outcome, changing follow-up and screening in a proportion of children.
Lastly, we investigated the use of prophylactic platelet transfusions in premature neonates with a thrombocytopenia, the role of special platelet transfusions fort wo specific types of platelet disorders, and the value of the drug ‘desmopressin’ in children with various types of platelet disorders.
We used the new knowledge to propose a new classification for platelet disorders
Chapters
INTRODUCTION
Chapter 1
General introduction & outline or the thesis
PART I Unmet needs in clinical management and diagnosis
Chapter 2
Knowledge gaps in health-related quality of life research performed in children with bleeding disorders - A scoping review abstract
Chapter 3
Bleeding symptoms, laboratory and molecular genetic results in platelet disorders
Chapter 4
Proteomic landscapes of inherited platelet disorders with different etiologies abstract
Chapter 5
Interstitial 11q deletions and terminal 11q duplications cause a bleeding tendency due to platelet dyslunctlon that Is similar to 11q deletions causing Jacobsen syndrome abstract
Chapter 6
Patients with chromosome 11q deletions are characterized by inborn errors of immunity involving both B- and T-lymphocytes abstract
Chapter 7
Heterozygous nonsense FL11pMet100* variant results in thrombocytopenia and increased erythroid gene expression abstract
Chapter 8
ETV6/TEL knockout leads to impaired megakaryold gene regulation, which Is phenocopled by the ETS-domain mutant ETV6-R369W via dominant negative actions.
PART II Therapeutic dilemmas
Chapter 9
Implementing HLA and HPA-matched platelet transfusions for patients with Glanzmann and Bernard·Soulter syndrome as standardized care? A Dutch survey and recommendations
Chapter 10
Are thrombocytopenia and platelet transfusions associated with major bleeding in preterm neonates? A systematic review abstract
Chapter 11
Desmopressin response In children with platelet disorders may depend on the presence of a genetic cause when response is measured with Von Wlllebrand activity and Platelet Function Analyzer abstract
GENERAL DISCUSSION AND SUMMARY
Chapter 12
General discussion and conclusions
Chapter 13
Summary/Samenvatting
Download
Download thesis from university repository (when available)