Detection of mild inherited disorders of blood coagulation: current options and personal recommendations.
Although assessment of prior personal and familial bleeding history is an important aspect of the diagnosis of bleeding disorders, patients with mild inherited bleeding disorders are sometimes clinically asymptomatic until presented with a hemostatic challenge. However, bleeding may occur after incursion of trauma or surgery, so detection of these conditions reflects an important facet of clinical and laboratory practice. Mild bleeding disorders may be detected as a result of family studies or following identification of abnormal values in first-line screening tests such as activated partial thromboplastin time, prothrombin time, fibrinogen and global platelet function screen testing, such as the platelet function analyzer. Following determination of abnormal screening tests, subsequent investigation should follow a systematic approach that targets specific diagnostic tests, and including factor assays, full platelet function assays and more extensive specialized hemostasis testing. The current report provides a personal overview on inherited disorders of blood coagulation and their detection.
Laboratory of Clinical Chemistry and Hematology, Academic Hospital of Parma, Parma, Italy.
Giuseppe
G
Lippi
Leonardo
L
Pasalic
Emmanuel J
EJ
Favaloro
D000465:Algorithms; D025861:Blood Coagulation Disorders, Inherited / Q000097:blood* / Q000175:diagnosis* / Q000453:epidemiology; D001780:Blood Coagulation Tests; D003937:Diagnosis, Differential; D006487:Hemostasis; D006801:Humans; D015995:Prevalence; D012720:Severity of Illness Index
bleeding; blood coagulation; coagulation factor; deficiency; hemophilia; platelet dysfunction; von Willebrand disease