PhD defence E.J. (Elise) Huisman

Below is a brief summary of the dissertation:

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.