Aim An increasing number of children are being tested for inherited thrombophilias. We present three cases of children known to our centre, who were tested for and found to have a positive thrombophilia test to illustrate the wide spectrum of issues and challenges that can arise and the implications for the children, their families and the health care professionals involved in their care.
Methods In most children a combination of risk factors lead to the development of symptomatic VTEs, and idiopathic VTEs, unlike in the adult population are extremely rare.
Thrombophilia testing in children with a proven VTE, is controversial, and at present there are no guidelines for thromboprophylaxis in children with heritable thrombophilia. Even more challenging is testing children who are asymptomatic. Clearly the family history of the inherited thrombophilia is relevant, but also of importance is the knowledge that any genetic testing should be done with the purpose of improving outcome for the individual concerned.
Results The three chosen examples are children aged between 2 and 16. The first case is a young girl with an extensive family history of childhood thrombosis in her father and uncle, who has inherited the same protein C mutation but is asymptomatic herself, the second is a young boy with a family history of protein S deficiency who was diagnosed with a PE and found to have the same mutation. And the third is a young boy who was tested inadvertently but was found to have antithrombin deficiency.
Conclusions These are only three examples from our haemostasis & thrombosis centre chosen to illustrate some of the challenges that arise in testing children for inherited thrombophilias and their longterm management and follow up. There is very little information available with regards to thrombophilia testing in asymptomatic children, which highlights even more so the importance of ensuring that the child and their family are reviewed by specialists in coagulation medicine and the decision to test for inherited thrombophilia is made based on the information obtained in the history, relevant to that child with appropriate counselling prior to testing and with a knowledge of the limitations of thrombophilia testing.