A New Case of Combined Deficiency of Vitamin K Dependent Coagulation Factors

Pechlaner, Christoph; Vogel, Wolfgang; Erhart, Reinhold; Pümpel, Eduard; Kúnz, F

doi:10.1055/s-0038-1646327

Cited by 20 publications

(13 citation statements)

References 7 publications

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“…Severely affected individuals may present at birth with spontaneous intracranial haemorrhage or umbilical stump bleeding [125][126][127] or in infancy and childhood with spontaneous haemarthroses and retroperitoneal, soft tissue or gastrointestinal bleeds. Otherwise, presentation may be later in life with easy bruising and mucocutaneous or postsurgical bleeding [128][129][130]. Severe bleeding is usually associated with activities of the VKCFDs of <5 U dL )1 [125,126].…”

Section: Clinical Phenotypementioning

confidence: 99%

The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

et al. 2004

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Summary.The rare coagulation disorders are heritable abnormalities of haemostasis that may present significant difficulties in diagnosis and management. This review summarizes the current literature for disorders of fibrinogen, and deficiencies of prothrombin, factor V, FV + VIII, FVII, FX, the combined vitamin K-dependent factors, FXI and FXIII. Based on both collective clinical experience and the literature, guidelines for management of bleeding complications are suggested with specific advice for surgery, spontaneous bleeding, management of pregnancy and the neonate. We have chosen to include a section on Ehlers-Danlos Syndrome because haematologists may be consulted about bleeding manifestations in such patients.

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Section: Clinical Phenotypementioning

confidence: 99%

The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

et al. 2004

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“…31 Older patients can present with easy bruising and mucocutaneous or postsurgical bleeding. 4,8,13 Severe bleeding is usually associated with factor levels below 5 U/dL. The phenotype of the affected individuals may be more severe if there is concomitant acquired vitamin K deficiency but a milder phenotype in patients receiving therapeutic doses of vitamin K. The routine administration of vitamin K may delay the diagnosis of VKCFD in neonates.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Vitamin K–Dependent Coagulation Factors Deficiency

Brenner¹,

Kuperman²,

Watzka³

et al. 2009

Semin Thromb Hemost

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All vitamin K-dependent coagulation factors require normal function of gamma-glutamyl carboxylase and vitamin K epoxide reductase enzyme complex (VKORC1). Heritable dysfunction of gamma-glutamyl carboxylase or of the VKORC1 complex results in the secretion of poorly carboxylated vitamin K-dependent proteins that play a role in coagulation. The following review will summarize the clinical manifestations of vitamin K-dependent coagulation factors deficiency I and II and will provide a detailed explanation about the gene and protein structure, the function of the protein, and an analysis of the previously reported mutations. Laboratory assays used for diagnosis will be discussed, and treatment for various clinical settings will be recommended.

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“…High doses of vitamin K partially restored the clotting factors (FII, FVII, FIX, and FX) in this patient toward normal and prevented bleeding [76]. Only a few additional cases of VKCFD2 have been reported since [77][78][79][80][81][82][83][84][85][86][87][88]. Clinical symptoms of VKCFD vary in accordance with procoagulant protein levels [87].…”

Section: Clinical Symptoms Of Vkcfdmentioning

confidence: 99%

Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders

Zhang

Ginsburg

2004

Journal of Thrombosis and Haemostasis

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Summary. Combined deficiency of factor (F)V and FVIII (F5F8D) and combined deficiency of vitamin K‐dependent clotting factors (VKCFD) comprise the vast majority of reported cases of familial multiple coagulation factor deficiencies. Recently, significant progress has been made in understanding the molecular mechanisms underlying these disorders. F5F8D is caused by mutations in two different genes (LMAN1 and MCFD2) that encode components of a stable protein complex. This complex is localized to the secretory pathway of the cell and likely functions in transporting newly synthesized FV and FVIII, and perhaps other proteins, from the ER to the Golgi. VKCFD is either caused by mutations in the γ‐carboxylase gene or in a recently identified gene encoding the vitamin K epoxide reductase. These two proteins are essential components of the vitamin K dependent carboxylation reaction. Deficiency in either protein leads to under‐carboxylation and reduced activities of all the vitamin K‐dependent coagulation factors, as well as several other proteins. The multiple coagulation factor deficiencies provide a notable example of important basic biological insight gained through the study of rare human diseases.

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A New Case of Combined Deficiency of Vitamin K Dependent Coagulation Factors

Cited by 20 publications

References 7 publications

The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

Vitamin K–Dependent Coagulation Factors Deficiency

Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders

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