title: Isolated antiplasmin deficiency presenting as a spontaneous bleeding disorder in a 63-year-old man.
abstract: Spontaneous bleeding in adults is a major problem, and in a significant number of these patients no cause is found. A 63-year-old Caucasian man presented to our hematology clinic with a large hematoma of his left thigh. Initial investigations did not show any conclusive abnormalities of primary or secondary hemostasis. Subsequent tests demonstrated a type 1 deficiency of antiplasmin. Treatment with low doses of epsilon-aminocaproic acid resulted in resolution of the hematoma and control of bleeding. We sought to determine the cause of the patient's isolated antiplasmin deficiency but no explanation was found. Three heterozygous polymorphisms were identified in his antiplasmin gene, ruling out major gene deletions. Each of these three polymorphisms has been previously reported in healthy blood donors. Finally, since response to antifibrinolytics can be dramatic, deficiencies of antiplasmin must be considered in patients presenting at any age with a spontaneous bleeding disorder.
authors.affiliation: Section on Hematology and Oncology, Department of Medicine, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA. vharish@triad.rr.com
authors.forename: Vallathucherry C
authors.initials: VC
authors.lastname: Harish
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
authors.forename: Jason D
authors.initials: JD
authors.lastname: Huff
authors.forename: Heather
authors.initials: H
authors.lastname: Lawson
authors.forename: John
authors.initials: J
authors.lastname: Owen
mesh_terms: D000614:Aminocaproates / Q000627:therapeutic use; D000933:Antifibrinolytic Agents / Q000627:therapeutic use; D001778:Blood Coagulation Disorders / Q000175:diagnosis*; D006406:Hematoma / Q000097:blood* / Q000188:drug therapy; D006801:Humans; D008297:Male; D008875:Middle Aged; D000979:alpha-2-Antiplasmin / Q000235:genetics / Q000378:metabolism*
chemical_list: D000614:Aminocaproates; D000933:Antifibrinolytic Agents; D000979:alpha-2-Antiplasmin