Edit concept Question Editor Create issue ticket

Combined Deficiency of Factors V and VIII

FV and FVIII Combined Deficiency


Presentation

  • Affected patients present with a moderate bleeding tendency and have Factor V and Factor VIII levels in the range of 5-30% of normal.[ncbi.nlm.nih.gov]
  • This review summarizes recent reports on the clinical presentations, treatments, and molecular mechanism of F5F8D.[ncbi.nlm.nih.gov]
  • Nine such cases belonging to five unrelated families have been analysed in the present study for the various haematological and clinical parameters. A very mild clinical presentation is seen in all these cases.[ncbi.nlm.nih.gov]
  • الصفحة 318 - Navia BA, Price RW: The acquired immunodeficiency syndrome dementia complex as the presenting or sole manifestation of human immunodeficiency virus infection. ‏[books.google.com]
  • A patient with combined factor V and factor VIII deficiency is presented. The bleeding manifestations were mild.[ncbi.nlm.nih.gov]
Purpura
  • Get the latest information on hot topics such as Disseminated Intravascular Coagulation, Thrombophilia, Clinical and Laboratory Assessment and Management, Thrombotic -Thrombocytopenic Purpura, and Heparin-Induced Thrombocytopenia.[books.google.com]
  • Patients with Acute Thrombolytic Therapy Unusual Sites of Arterial Occlusion Pathogenesis and Treatment of BiomaterialAssociated Overview of Complex Thrombohemorrhagic Disorders Consumptive Thrombohemorrhagic Disorders The Thrombotic Thrombocytopenic Purpura[books.google.com]
  • Amy Geddis at ageddis@ucsd.edu » International Epidemiological Study of Neonatal Purpura Fulminans -- A Web-based registry created under the auspices of the ISTH and hosted by The Hospital for Sick Children, Toronto, Canada.[isth.org]
  • ICD-10-CM Codes › D50-D89 Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism › D65-D69 Coagulation defects, purpura and other hemorrhagic conditions › D68- Other coagulation defects › Hereditary deficiency[icd10data.com]
  • FLETCHER FACTOR AND FLITZGERALD FACTOR: •Show similar laboratory abnormalities •No clinical significance •Rare 61. von Willebrand’s Disease (vWD)(Pseudohemophilia, Vascular purpura) Composite of two disorders: 1.[slideshare.net]
Suggestibility
  • Family studies suggest that both of the brothers are homozygous for a recessive gene. Normal laboratory results were found in eight other family members although seven of them had reported a mild bleeding tendency.[ncbi.nlm.nih.gov]
  • These findings suggest that ERGIC-53 may function as a molecular chaperone for the transport from ER to Golgi of a specific subset of secreted proteins, including coagulation factors V and VIII. [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]
  • The third family did not show mutations in either of the two genes, suggesting that a significant subset of F5F8D cases may be due to additional genes resulting in a similar phenotype. Copyright (c) 2005 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]
  • A detailed genetic analysis identified two distinct haplotypes among these families, suggesting two independent founders or, alternatively, a single ancient founder with a more recent split of these subpopulations.[ncbi.nlm.nih.gov]
  • Approximately 26% of the mutations have not been identified, suggesting that lesions in regulatory elements or severe abnormalities within the introns may be responsible for the disease in these individuals.[ncbi.nlm.nih.gov]
Amenorrhea
  • At 39 weeks of amenorrhea, the patient was admitted to the labor room.[ncbi.nlm.nih.gov]

Workup

Factor VIII Decreased
  • Congenital factor VIII decrease is the cause of hemophilia A which has an incidence of 1 in 10,000 and is inherited in a recessive sex-linked manner on the X chromosome. Severe deficiency ( Factor VIII may be decreased in von Willebrand disease.[mayomedicallaboratories.com]

Treatment

  • The mainstay of their treatment is infusion of FVIII concentrate and fresh frozen plasma.[ncbi.nlm.nih.gov]
  • […] of Venous Thromboembolic Disease Overview of Arterial Thrombotic Disorders Pathophysiology of Atherothrombosis Prevention of Thromboembolic Stroke in Patients with Acute Thrombolytic Therapy Unusual Sites of Arterial Occlusion Pathogenesis and Treatment[books.google.com]
  • Efficiently look up concise descriptions of each condition, its associated symptoms, laboratory findings, diagnosis, differential diagnosis, and treatment.[books.google.com]
  • This review summarizes recent reports on the clinical presentations, treatments, and molecular mechanism of F5F8D.[ncbi.nlm.nih.gov]
  • الصفحة 133 - Salzman EW, Weinstein MJ, Weintraub RM, Ware JA, Thurer RL, Robertson L, Donovan A, Gaffney T, Bertele V, Troll J, Smith M, Chute LE: Treatment with desmopressin acetate to reduce blood loss after cardiac surgery. ‏[books.google.com]

Prognosis

  • Prognosis The prognosis is favorable for moderate forms of the disease. Management of patients with more severe forms should be carried out at a specialized centre.[orpha.net]
  • Psychiatry related information on F5 Their use as adjuncts for the diagnosis, prognosis, prediction of disease or targeting therapy for these disorders has begun, good examples being the Factor V Leiden mutation for venous-thromboembolism, lipoprotein[wikigenes.org]

Etiology

  • Etiology Combined deficiency of factor V and factor VIII is caused by mutations either in the LMAN1 gene (chromosome 18; q21) or in the MCFD2 gene (chromosome 2).[orpha.net]
  • […] thrombasthenia 1 in 1,000,000 Autosomal recessive Bernard-Soulier syndrome 1 in 1,000,000 Autosomal recessive Gray platelet syndrome Rare Autosomal dominant, recessive or X-linked recessive Wiskott-Aldrich syndrome 1 in 1,000,000 X-linked recessive Etiology[pathologyoutlines.com]
  • If a hereditary etiology for the decrease appears likely, the diagnosis can be confirmed by measuring the factor in relatives.[mghlabtest.partners.org]
  • ETIOLOGY AND PATHOGENESIS OF HEMOPHILIA FACTOR IX a activates Factor X in the presence of Factor VIII a, phospholipids, activated platelets and calcium.[slideshare.net]

Epidemiology

  • Management of Acute Hemorrhage Platelets Plasma and Specialized Coagulation Concentrate New Approaches for the Therapy of Bleeding Disorders Overview of Venous Thromboembolism Thrombophilia Genetics Epidemiology and Risk Factors for Venous Clinical Manifestations[books.google.com]
  • Summary Epidemiology Prevalence is estimated between 1/100,000 and 1/1,000,000. Clinical description The condition is more prevalent in the Mediterranean area and in areas where consanguineous marriages are common.[orpha.net]
  • Amy Geddis at ageddis@ucsd.edu » International Epidemiological Study of Neonatal Purpura Fulminans -- A Web-based registry created under the auspices of the ISTH and hosted by The Hospital for Sick Children, Toronto, Canada.[isth.org]
  • Relevant External Links for MCFD2 Genetic Association Database (GAD) MCFD2 Human Genome Epidemiology (HuGE) Navigator MCFD2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MCFD2 No data available for Genatlas for MCFD2 Gene Bleeding due[genecards.org]
  • […] reticulum-Golgi gene ERGIC 53 on #18 that transports these factors), combined factors II, VII, IX and X deficiency (due to mutation in gamma-glutamyl carboxylase gene, whose protein carboxylates glutamate residues in vitamin K-dependent coagulation factors) Epidemiology[pathologyoutlines.com]
Sex distribution
Age distribution

Pathophysiology

  • Manifestations and Diagnosis of Venous Venous Thrombosis in Unusual Sites Victor J Marder Hylton V Joffe and Sam Schulman Prevention of Venous Thromboembolic Disease Treatment of Venous Thromboembolic Disease Overview of Arterial Thrombotic Disorders Pathophysiology[books.google.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Factor VIII is synthesized in the liver, and perhaps in other tissues.[mayomedicallaboratories.com]
  • Cooper DN, Millar DS, Wacey A, et al, "Inherited Factor X Deficiency: Molecular Genetics and Pathophysiology," Thromb Haemost, 1997, 78(1):161-72. 16.[mghlabtest.partners.org]
  • Blood coagulation Screening di polimorfismi genetici associati al rischio di insorgenza di patologie cardiovascolari PATHOPHYSIOLOGY In the normal person, factor V functions as a cofactor to allow factor Xa to activate an enzyme called thrombin.[flipper.diff.org]
  • These six categories correspond to distinct pathophysiologic mechanisms with distinct clinical features and therapeutic requirements. Classification of VWD 1. All VWD is caused by mutations at the VWF locus. 2.[haemophilia.org.za]

Prevention

  • […] of Venous Thromboembolic Disease Treatment of Venous Thromboembolic Disease Overview of Arterial Thrombotic Disorders Pathophysiology of Atherothrombosis Prevention of Thromboembolic Stroke in Patients with Acute Thrombolytic Therapy Unusual Sites of[books.google.com]
  • The goal of treatment is to prevent bleeds and the damage associated with bleeding. Quality medical care from health care providers with expertise in this bleeding disorder can help prevent many serious problems.[glhf.org]
  • This is known as replacement therapy, and it can be used to prevent bleeding or to stop bleeding when it occurs.[flipper.diff.org]
  • Plasma replacement is given to pregnant women to prevent spontaneous abortions. Deficiency of Factor XIII can be corrected with infusions of fresh frozen plasma or factor XIII concentrates.[haemophilia.org.za]
  • INTRODUCTION Hemostasis is the process of forming clots in the walls of damaged blood vessels and preventing blood loss while maintaining blood in a fluid state within the vascular system. 4.[slideshare.net]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!