Blanchette V S, Sparling C, Turner C
Baillieres Clin Haematol. 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3.
Congenital bleeding disorders comprise a heterogeneous group of diseases that reflect abnormalities of blood vessels, coagulation proteins and platelets. Studies of these diseases, many of which are rare and several of which result in a mild bleeding diathesis only, have significantly increased our understanding of normal haemostasis. Two lessons have been learned. First, quantitative abnormalities of coagulation proteins and platelets are an important, but not the only, cause of significant haemorrhage; some cases of inherited bleeding disorders reflect synthesis of a dysfunctional coagulation protein or production of abnormal platelets. Diagnostic tests that reflect qualitative abnormalities are therefore important in the evaluation of selected patients with inherited bleeding disorders. Second, in occasional patients the inherited disorder is complex and reflects combined abnormalities of coagulation proteins alone or in association with platelet disorders. In clinical practice it is useful to distinguish disorders that cause significant clinical bleeding from those that cause few or no symptoms. Examples of the former include severe deficiencies of factors VIII and IX, and the homozygous forms of factor II, V, VII, X, XI, XIII, fibrinogen and von Willebrand factor. Comparable platelet disorders include the inherited thrombocytopenias with platelet counts less than 20 x 10(9) litre-1 and the homozygous forms of Bernard-Soulier syndrome and Glanzmann's thrombasthenia. The most frequently encountered mild haemostatic abnormalities include type I von Willebrand's disease, the platelet storage pool deficiency syndromes and the mild and moderate forms of haemophilia A and B; occasionally heterozygous or homozygous forms of the rarer coagulation disorders, e.g. factor XI deficiency, may present with a mild bleeding diathesis. Finally, some disorders are entirely asymptomatic, e.g. factor XII deficiency and deficiencies of other contact coagulation factors. Management of patients with inherited bleeding disorders should reflect knowledge of the specific disorder to be treated plus careful consideration of the clinical circumstance for which therapy is proposed. In all cases, once a decision to treat has been made, the safest efficacious therapy should be given (for example DDAVP in the treatment of patients with mild haemophilia A or type I von Willebrand's disease). Although blood products are now much safer and the risk of blood transmitted viral infections is low, there still remains a risk that transfusion of any blood product may be associated with serious side-effects. As a result, therapy should be given only after careful consideration of the risk: benefit ratio and not merely to treat an abnormal laboratory result.(ABSTRACT TRUNCATED AT 400 WORDS)
先天性出血性疾病是一组异质性疾病，反映了血管、凝血蛋白和血小板的异常。对这些疾病的研究显著增进了我们对正常止血机制的理解，其中许多疾病较为罕见，有些仅导致轻度出血倾向。我们从中吸取了两个教训。第一，凝血蛋白和血小板的定量异常是严重出血的一个重要但并非唯一的原因；一些遗传性出血性疾病病例反映了功能失调的凝血蛋白的合成或异常血小板的产生。因此，反映定性异常的诊断测试对于评估特定的遗传性出血性疾病患者很重要。第二，在少数患者中，遗传性疾病较为复杂，反映了仅凝血蛋白的联合异常或与血小板疾病相关的异常。在临床实践中，区分导致严重临床出血的疾病和导致很少或没有症状的疾病很有用。前者的例子包括因子VIII和IX的严重缺乏，以及因子II、V、VII、X、XI、XIII、纤维蛋白原和血管性血友病因子的纯合形式。类似的血小板疾病包括血小板计数低于20×10⁹/升的遗传性血小板减少症，以及伯纳德 - 索利尔综合征和血小板无力症的纯合形式。最常见的轻度止血异常包括I型血管性血友病、血小板贮存池缺乏综合征以及轻度和中度血友病A和B；偶尔，较罕见的凝血障碍的杂合或纯合形式，如因子XI缺乏，可能表现为轻度出血倾向。最后，一些疾病完全无症状，如因子XII缺乏和其他接触凝血因子缺乏。遗传性出血性疾病患者的管理应反映对要治疗的特定疾病的了解，以及对提议治疗的临床情况的仔细考虑。在所有情况下，一旦决定进行治疗，应给予最安全有效的治疗（例如，去氨加压素用于治疗轻度血友病A或I型血管性血友病患者）。尽管现在血液制品安全得多，血液传播病毒感染的风险很低，但输注任何血液制品仍存在与严重副作用相关的风险。因此，应仅在仔细考虑风险效益比后才给予治疗，而不仅仅是为了纠正异常的实验室结果。（摘要截选至400字）
