title: Ten patient stories illustrating the extraordinarily diverse clinical features of patients with thrombotic thrombocytopenic purpura and severe ADAMTS13 deficiency.
abstract: Patients with thrombotic thrombocytopenic purpura (TTP) and severe ADAMTS13 deficiency are often considered to have typical clinical features. However, our experience is that there is extraordinary diversity of the presenting features and the clinical courses of these patients. This diversity is illustrated by descriptions of 10 patients. The patients illustrate that ADAMTS13 activity may be normal initially but severely deficient in subsequent episodes. Patients with established diagnoses of systemic infection as the cause of their clinical features may have undetectable ADAMTS13 activity. Patients may have a prolonged prodrome of mild symptoms with only microangiopathic hemolytic anemia and thrombocytopenia or they may have the sudden onset of critical illness with multiple organ involvement. Patients may die rapidly or recover rapidly; they may require minimal treatment or extensive and prolonged treatment. Patients may have acute and severe neurologic abnormalities before microangiopathic hemolytic anemia and thrombocytopenia occur. Patients may have concurrent TTP and systemic lupus erythematosus. Patients may have hereditary ADAMTS13 deficiency as the etiology of their TTP rather than acquired autoimmune ADAMTS13 deficiency. These patients' stories illustrate the clinical spectrum of TTP with ADAMTS13 deficiency and emphasize the difficulties of clinical diagnosis.
authors.affiliation: Department of Biostatistics and Epidemiology, College of Public Health, Department of Medicine, College of Medicine, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA. james-george@ouhsc.edu
authors.forename: James N
authors.initials: JN
authors.lastname: George
authors.forename: Qiaofang
authors.initials: Q
authors.lastname: Chen
authors.forename: Cassie C
authors.initials: CC
authors.lastname: Deford
authors.forename: Zayd
authors.initials: Z
authors.lastname: Al-Nouri
mesh_terms: D051722:ADAM Proteins / Q000097:blood / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D000071120:ADAMTS13 Protein; D000328:Adult; D001323:Autoantibodies / Q000097:blood / Q000276:immunology; D001324:Autoantigens / Q000276:immunology; D002648:Child; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004612:Elliptocytosis, Hereditary / Q000150:complications; D004697:Endocarditis, Bacterial / Q000150:complications; D005260:Female; D005517:Foodborne Diseases / Q000175:diagnosis; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis; D006801:Humans; D006973:Hypertension / Q000150:complications; D007206:Individuality; D008180:Lupus Erythematosus, Systemic / Q000150:complications; D008297:Male; D016920:Meningitis, Bacterial / Q000175:diagnosis; D008875:Middle Aged; D010641:Phenotype; D011697:Purpura, Thrombotic Thrombocytopenic / Q000150:complications / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics / Q000276:immunology; D012008:Recurrence; D013203:Staphylococcal Infections / Q000150:complications; D020521:Stroke / Q000209:etiology; D055815:Young Adult
chemical_list: D001323:Autoantibodies; D001324:Autoantigens; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human