title: [Rare bleeding disorders and invasive procedures].
abstract: Rare inherited bleeding disorders include fibrinogen disorders, and deficiencies of factors II (prothrombin), V, VII, X, XI, XIII, and combined V+VIII, and combined vitamin K-dependent factors, with general population prevalence rates between 1/500,000 and 1/2,000,000. These inherited disorders, transmitted as autosomal recessive traits, are characterized by a heterogeneous clinical presentation (asymptomatic, mild, moderate or severe bleeding tendency); this variability is more important for deficiencies with factor levels ranging from 5 to 50%. Individual bleeding risk assessment before an invasive procedure or during peri-partum period remains difficult, although an essential step to decide whether a substitution with clotting factor is necessary or not. Because there is a poor correlation between factor activity levels and the severity of bleeding symptoms, factor correction before an invasive procedure should not be based on factor level only, but physicians must also take into account the patient phenotype as well as the haemorrhagic risk of the procedure.
authors: Service d'anesthésiologie, hôpitaux universitaires de Genève, 4, rue Gabrielle-Perret-Gentil, 1211 Genève 14, Suisse. Fanny.Bonhomme@hcuge.ch
authors: F
authors: F
authors: Bonhomme
authors: J-F
authors: JF
authors: Schved
authors: M
authors: M
authors: Giansily-Blaizot
authors: C-M
authors: CM
authors: Samama
authors: P
authors: P
authors: de Moerloose
mesh_terms: D025861:Blood Coagulation Disorders, Inherited / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D001779:Blood Coagulation Factors / Q000009:adverse effects / Q000032:analysis / Q000235:genetics / Q000627:therapeutic use; D020147:Coagulation Protein Disorders / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D019468:Disease Management; D004630:Emergencies; D005260:Female; D005808:Genes, Recessive; D006470:Hemorrhage / Q000209:etiology* / Q000517:prevention & control; D006801:Humans; D008297:Male; D019106:Postoperative Hemorrhage / Q000209:etiology / Q000517:prevention & control; D006473:Postpartum Hemorrhage / Q000209:etiology / Q000517:prevention & control; D011247:Pregnancy; D015995:Prevalence; D018570:Risk Assessment; D063189:Symptom Assessment; D013927:Thrombosis / Q000139:chemically induced
chemical_list: D001779:Blood Coagulation Factors