Evaluation of an inherited bleeding disorder

Reasons to suspect an inherited bleeding disorder may include a positive family history, a personal history of increased bleeding, an abnormality of a laboratory test (coagulation test, platelet count, platelet morphology), or other reasonable patient concern. A carefully performed bleeding history is the best initial assessment for a bleeding disorder. Information from the clinical evaluation may guide subsequent workup, such as evaluation for a connective tissue disorder in an individual with joint hypermobility and increased bleeding. The medication history is important to identify possible causes of bleeding as well as to determine medications that may need to be discontinued prior to obtaining platelet aggregometry. Optimal evaluation is done by a hemostasis expert with access to specialist assays including platelet aggregometry testing.

CBC: complete blood count; PT: prothrombin time; aPTT: activated partial thromboplastin time; NSAID: nonsteroidal antiinflammatory drug; SSRI: selective serotonin reuptake inhibitor; VWD: von Willebrand disease.

* The ISTH-BAT delineates and quantifies personal bleeding history and responses to bleeding challenges. A calculator is available at bleedingscore.certe.nl. Cutoffs vary by age and sex, since bleeding challenges are more common in older individuals (surgery, dental procedures) and females (menses and pregnancy). A score ≥4 suggests a possible bleeding disorder; often individuals with bleeding disorders have scores of ≥10.

¶ The aPTT can be normal with mild factor IX or factor XI deficiency. Factor IX and XI activity testing is most relevant in individuals with a positive family history of bleeding (for factor IX, especially in males; for factor XI, especially for those with Ashkenazi Jewish ancestry) and a very high ISTH-BAT score and/or joint and soft tissue bleeding; it may be omitted in individuals with less-severe bleeding history or those in whom other diagnoses seem more likely. Refer to UpToDate topics on bleeding disorders and coagulation testing for details of the likely diagnoses and subsequent testing.

Δ Genetic testing can be done simultaneously with other testing or sequentially, depending on clinical situation and local practices. A hemostasis genetic panel is often used. Refer to UpToDate topics on heritable platelet disorders for listings of specific disorders and genes.

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Evaluation of an inherited bleeding disorder