出血性線溶異常症

INTRODUCTION: Coagulation disorders can lead to massive perioperative bleeding regardless of the type of surgery. Their preoperative identification is essential (from a complete history of bleeding tendency) and steps should be taken to mitigate such complications at the time of surgery. Alpha2-plasmin inhibitor (α2-PI) deficiency is a rare congenital coagulation disorder resulting in activation of fibrinolysis and requiring specific treatment with antifibrinolytic agents. Lung transplantation has not been previously reported in a patient with α2-PI deficiency. CASE PRESENTATION: A 46-year-old female affected by chronic obstructive pulmonary disease with congenital α2-PI deficiency was referred to our hospital for cadaveric lung transplantation. Due to a previous history of intramedullary hemorrhage, we conducted lung transplantation with prophylactic administration of fresh frozen plasma (FFP) and tranexamic acid during surgery. We used the point of care test (POC) rotational thromboelastometry (ROTEM) to diagnose intraoperative coagulopathy. The postoperative course was uneventful, and she was discharged from the hospital 42 days after lung transplantation. Six months have passed since transplant, and she is still attending outpatient clinics in good health and with no record of bleeding episodes. CONCLUSIONS: Lung transplantation for a patient with α2-PI deficiency was safely performed with the use of planned FFP transfusion and tranexamic acid. A POC ROTEM testing approach to perioperative management was useful during lung transplantation.

BACKGROUND: The plasma serine protease inhibitor alpha 2-antiplasmin (α2-AP, otherwise known as α2-plasmin inhibitor) is a rapid-acting plasmin inhibitor recently found in human plasma, which seems to have a significant role in the regulation of in vivo fibrinolysis. Congenital deficiency of α2-AP is extremely uncommon. CASE PRESENTATION: We report here a case of absolute deficiency of α2-AP in an 11-year-old Sudanese boy, who had a lifelong intermittent hemorrhagic tendency (gum bleeding, epistaxis, and exaggerated bleeding after trauma). Coagulation tests including prothrombin time, partial thromboplastin time, thrombin time, bleeding time, platelet count, clot retraction test, antithrombin, and factor VIII levels were within normal limits. Hepatic function tests and complete blood count were also normal. The main interesting finding in this patient was that the whole blood clot lysis was extremely fast, completed within 5-8 hours. The second abnormal finding is that the euglobulin clot lysis time was short. Nevertheless, the concentration of α2-AP in the patient's plasma was 0.2 IU/ml (reference range is 0.80-1.20 IU/ml). The addition of pooled plasma (with normal α2-AP) to the patient's whole blood corrected the accelerated fibrinolysis. CONCLUSION: The study showed that α2-AP deficiency resulted in uninhibited fibrinolysis that caused the hemorrhagic tendency in this patient. Thus, this report demonstrates the significant role of α2-AP in coagulation.

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.