A young patient presents with pulmonary embolism. Should you send blood to the lab for a thrombophilia screen? What if she is pregnant? How about a patient with an upper limb DVT, or a child with a stroke?
The answers, in order, are: not necessarily; possibly – trials are ongoing; it depends; and ‘not indicated’. At least according to the The British Committee for Standards in Haematology (BCSH) in their 2009 document ‘Clinical guidelines for testing for heritable thrombophilia’
The document highlights the lack of evidence that the results of thrombophilia screening influence type or duration of management, or predict likelihood of recurrence in unselected patients with symptomatic venous thrombosis. Furthermore, the results of thrombophilia tests are frequently misinterpreted. Many more situations and conditions are covered in the full document.