trombocytopathy
Conditions
Interventions
Nvt
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
No minimum to 99 Years
Inclusion criteria
Inclusion criteria: (Suspected) PFD defined according to the following criteria: • Congenital or familial thrombocytopenia • Chronic thrombocytopenia (>1 year) without proven or suspected acquired cause • PFD with proven molecular diagnosis. • Abnormal LTA for at least one of the agonists and/or abnormal ATP/ADP ratio (storage pool test) • History of bleeding diathesis very suspect of a primary hemostasis function defect with or without prolonged Platelet Function Analyser closure time. Inclusion criteria of control group of VWD patients for bruising pattern Patients younger than 18 years old with Von Willebrand*s disease type 1 or type 2 that visit the VCK regularly.
Exclusion criteria
Exclusion criteria: - Inability to give informed consent or inability of the parents to give informed consent in patients
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Frequency and severity of bleeding symptoms: bleeding score using the ISTH-BAT Treatment of bleeding diathesis: type and frequency of treatment received in the past (local treatment, antifibrinolytics, DDAVP, platelet transfusion) Impact of PFD on quality of life, using age specific questionnaires. Bruising pattern in children with PFD and VWD type 1 and 2 | — |
Secondary
| Measure | Time frame |
|---|---|
| To investigate if diagnostic approaches can be improved and optimized using tests additional to the standard available diagnostic tests available. To search for a possible relationship between type of PFD and bleeding phenotype. To study phenotype-genotype relationships To study occurrence and genotype-phenotype relationships within families To gain more insight in pathophysiology of proven PFD*s To validate a new disease-specific quality of life quiestionnaire | — |
Countries
Netherlands
Contacts
Public ContactR Schutgens
Universitair Medisch Centrum Utrecht
Outcome results
None listed