Congenital Alpha-2 Antiplasmin Deficiency: a Literature Survey and Analysis of 123 Cases.

BACKGROUND Congenital alpha-2 antiplasmin deficiency is a rare, often misdiagnosed coagulopathy that may result in severe hemorrhage. Homozygous patients develop symptomatology in early childhood, while heterozygous individuals may be asymptomatic or bleed profusely following invasive dental procedures, surgery or trauma late in life. Due to the rarity of this entity, we performed an analysis of reported cases of congenital alpha-2 antiplasmin deficiency to share uncommon cases with the medical community, to raise awareness of the condition among clinicians, and to promote better patient management. METHODS To identify relevant studies, PubMed and Science Direct were searched using controlled vocabulary and keywords based on medical subject headings (MeSH). Data of all reported cases of congenital alpha-2 antiplasmin deficiency were extracted and summarized for study setting, patient characteristics, and types of treatments. RESULTS Thirty-three publications were identified encompassing one hundred twenty-three patients. This manuscript presents many important clinical conditions that are uncommon and may go undetected by medical personnel. It illustrates the importance of considering alpha-2 antiplasmin deficiency in the work-up of patients who present with a severe bleeding phenotype and may have normal coagulation screening tests. Management of such patients may be challenging especially when the diagnosis of alpha-2 antiplasmin deficiency is not known. CONCLUSIONS Improved awareness and access to diagnostic tools will contribute to better management of rare co-agulopathies.