Identification of people with acquired hemophilia in a large electronic health record database

BACKGROUND: Electronic health records (EHRs) can provide insights into diagnoses, treatment patterns, and clinical outcomes. Acquired hemophilia (AH) is an ultrarare bleeding disorder characterized by factor VIII inhibiting autoantibodies. AIM: To identify patients with AH using an EHR database. METHODS: Records were accessed from a large EHR database (Humedica) between January 1, 2007 and July 31, 2013. Broad selection criteria were applied using the International Classification of Diseases, Ninth Revision, clinical modification (ICD-9-CM) code for intrinsic circulating anticoagulants (286.5 and all subcodes) and confirmation of records 6 months before and 12 months after the first diagnosis. Additional selection criteria included mention of “bleeding” within physician notes identified via natural language processing output and a normal prothrombin time and prolonged activated partial thromboplastin time. RESULTS: Of 6,348 patients with a diagnosis code of 286.5 or any subcodes, 16 males and 15 females met the selection criteria. The most common bleeding locations reported was gastrointestinal (23%), vaginal (16%), and endocrine (13%). A wide range of comorbidities was reported. Natural language processing identified chart note mention of “hemophilia” in 3 patients (10%), “bruise” in 15 patients (48%), and “pain” in all 31 patients. No patients received a prescription for approved/recommended AH treatments. Four patient cases were reviewed to validate whether the identified cohort had AH; each patient had bleeding symptoms and a normal prothrombin time and prolonged activated partial thromboplastin time, although none received hemostatic treatments. CONCLUSION: In ultrarare disorders, ICD-9-CM coding alone may be insufficient to identify patient cohorts; multimodal analysis combined with in-depth reviews of physician notes may be more effective.