Gooijer, K. (2018) Bleeding Disorders in Osteogenesis Imperfecta : A cross-sectional pilot study. thesis, Medicine.
Full text available on request.Abstract
Introduction Osteogenesis imperfecta(OI) is a rare congenital condition characterized mainly by brittle bones and blue sclera, but produces also many other symptoms such as easy bruising. There are OI patients described who had bleeding disorders during surgery. Modern laboratory technologies are still not conducted to search for the origin. The aim of this study is to objectify the bleeding tendency in OI patients and to screen for possible underlying pathologies, possibly for a study with a more specified direction. Method In this pilot study 22 cross-sectional patients were included in which various basic and advanced laboratory analyses were performed. The study consisted of four steps: (1) to objective the bleeding tendency using a validated questionnaire, (2) the development and collection of questionnaires focused on the use of medication and clinical background information, (3) the analysis of the bleeding tendency by various laboratory techniques, (4) making 2 different control groups in order to compare a selection of laboratory results with the OI patients in order to find possible explanations for the bruising of OI patients. Results The patient selection had comparable characteristics compared with the entire population of the Isala expertise centre. 4 patients (18%) had a bleeding score (BS) fitting with a bleeding tendency without consistent laboratory abnormalities. 2 patients appeared to have an abnormal fibrinolysis. Conclusions A majority of OI patients appears to bruise easily, not connected to bleeding disorders. Some patients have an increased bleeding tendency which is based on the questionnaire. Structural and consistent bleeding problems within coagulation can be excluded in OI patients. Bleeding tendencies outside of the coagulation cascade however, for example by means of a fragile vessel wall, are not ruled out. Besides, bleeding problems can occur in any individual, unrelated to the OI. Given the case reports that report bleeding in OI we advocate alertness around surgeries. Future research aimed at the influence of vascular fragility and collagen in the vascular wall must be performed in order to provide conclusive answers. Fibrinolysis can be a hint for vascular wall abnormalities.
| Item Type: | Thesis (Thesis) |
|---|---|
| Supervisor name: | Supervised by and Franken, dr. A.A.M. and National expertise centre of Osteogenesis Imperfecta, Medica |
| Faculty: | Medical Sciences |
| Date Deposited: | 25 Jun 2020 11:08 |
| Last Modified: | 25 Jun 2020 11:08 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/2733 |
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