Diagnosis and choice of haemostatic therapy during surgery in patients with combined coagulation factor V and VIII defi ciency

Congenital combined deficiency of factor V (FV) and factor VIII (FVIII; F5F8D, OMIM 227300) is a rare hereditary coagulopathy and accounts for approximately 3% of cases of rare coagulation disorders. The prevalence of this disease in the general population is estimated to be 1:1,000,000 and is significantly higher in regions where consanguineous marriages are permitted, such as the Mideast and South Asia. The disease has an autosomal recessive mode of inheritance and therefore occurs with an equal incidence among males and females. Heterozygous mutation carriers usually do not have clinical manifestations. The molecular basis of this disease differs from that of stand-alone congenital deficiencies of FVIII and FV. F5F8D is caused by mutations in either LMAN1 or MCFD2, which encode components of a cargo receptor complex for endoplasmic reticulum to Golgi transport of FV and FVIII, leading to defects in an intracellular transport pathway shared by these two coagulation factors. Congenital combined deficiency of FV and FVIII is characterized by decreased activities of both FV and FVIII in plasma, usually to 5 to 30% of normal. Clinical manifestations in most cases are represented by mild or moderate hemorrhagic syndrome. The simultaneous decreases of two coagulation factors present complications in the diagnosis and management of the disease. In female patients, the disease requires a special approach for family planning, pregnancy management, and parturition. This review summarizes recent progress in clinical, laboratory, and molecular understanding of this disorder.

show abstract

Reference values of activated partial thromboplastin time, Quick`s value, INR, thrombin time, fibrinogen, antithrombin and II, V, VII, VIII, IX, X, XI and XII coagulation factors determined with automated Sysmex CS-2000i analyzer

Горгидзе¹,

Mamleeva²,

Pimenov

et al. 2023

Medicinskij alfavit

View full text Add to dashboard Cite

The article defines reference values for activated partial thromboplastin time, Quick’s value, INR, thrombin time, fibrinogen, antithrombin and II, V, VII, VIII, IX, X, XI and XII coagulation factors, according to existing standards on the automated Sysmex CS‑2000i analyzer.The aim of the study. To determine reference values for routine and specific parameters of the hemostasis, which may vary depending on the type of analyzer and utilized reagents.Materials and methods. After receiving informed consent from donors for medical survey and blood donation, blood samples were obtained from 100 healthy donors: 64 (64%) males и 36 (36%) females. We established reference values with the Sysmex CS‑2000i (Sysmex, Japan) hemostasis analyzer and reagents from Siemens (Siemens Healthcare, Germany).Results. The data obtained were compared with the literature data and the data presented in the instructions for the reagents used. The results obtained for activated partial thromboplastin time (23.59–35.69 sec), fibrinogen (1.67–3.59 g/l) and antithrombin (67.65–114.89%) are comparable to the available data. There are no data on other studied parameters of hemostasis for the Sysmex CS‑2000i analyzer and the reagents used in the work. The obtained reference intervals are consistent with the recommendations of the manufacturer.Conclusions. Reference values vary significantly depending on the analytical systems and reagent kits used, which confirms the need for local derivation or validation of reference intervals for each specific analytical system and in each laboratory.

show abstract

Diagnosis and choice of haemostatic therapy during surgery in patients with combined coagulation factor V and VIII defi ciency

Cited by 3 publications

References 23 publications

Combined Factor V and Factor VIII Deficiency, Diagnosis, and Management

Combined Factor V and Factor VIII Deficiency, Diagnosis, and Management

Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII

Reference values of activated partial thromboplastin time, Quick`s value, INR, thrombin time, fibrinogen, antithrombin and II, V, VII, VIII, IX, X, XI and XII coagulation factors determined with automated Sysmex CS-2000i analyzer

Contact Info

Product

Resources

About