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]

• Hunting

  Hunt CM, Carson KL, Ortel TL. Combined factor IX and XI deficiency discovered at liver biopsy. Dig Dis Sci. 1997;42:1731-1733. 5. Weston BW, Monahan PE. Familial deficiency of vitamin K-dependent clotting factors. Haemophilia. 2008;14:1209-1213. 6. [hematologyandoncology.net]

• Turkish

  Family B20 is a consanguineous Turkish family with 2 affected siblings. Family B21 is an Iraqi Chaldean family. Family B22 is from Saudi Arabia. Families B23 to B25 are 3 unrelated Iranian Jewish families. Families B26 to B28 are from Italy. [bloodjournal.org]

• Easy Bruising

  The bleeding manifestations were: easy bruising, post-traumatic bleeding, bleeding after tooth extractions. [ncbi.nlm.nih.gov]

  Epistaxis, easy bruising, post-surgical or post partum bleeding and menorrhagia are the most common symptoms. Hemarthrosis and muscular hematomas may occur. The symptoms are usually mild. [orpha.net]

  bruising, nose and mouth bleeds, and soft tissue bleeds are also common; joint bleeding is relatively uncommon Women with afibinogenemia have an increased risk of spontaneous abortion Persons with dysfibrinogenemia may have a disposition to thrombosis [ilbcdi.org]

  SYMPTOMS OF AFIBRINOGENEMIA • Nosebleeds (epistaxis) • Easy bruising • Menorrhagia • Muscle bleeds • Cutaneous ecchymoses and hematomas 34. [slideshare.net]

  In cases of severe factor V deficiency, the symptoms often include: abnormal bleeding after giving birth, having surgery, or being injured abnormal bleeding under the skin umbilical cord bleeding at birth nosebleeds bleeding gums easy bruising heavy or [healthline.com]

• Severe Abdominal Pain

  abdominal pain, gastrointestinal bleeding; - Very Serious: intracranial bleeding, major trauma with bleeding, surgeries with bleeding, retroperitoneal bleeding. [flipper.diff.org]

• Skin Bleeding

  Common symptoms Skin bleeding Heavy or prolonged menstrual bleeding (menorrhagia) Bleeding in the mouth, particularly after dental surgery or tooth extraction Bleeding after circumcision Abnormal bleeding during or after injury, surgery, or childbirth [haemophilia.ie]

  See Bleeding Symptoms of Rare Clotting Factor Deficiencies Common symptoms skin bleeding heavy or prolonged menstrual bleeding (menorrhagia) bleeding in the mouth, particularly after dental surgery or tooth extraction bleeding after circumcision abnormal [wfh.org]

  From more common to less common, symptoms include: Skin bleeding Heavy or prolonged menstrual bleeding (menorrhagia) Bleeding in the mouth, particularly after dental surgery or tooth extraction Bleeding after circumcision Abnormal bleeding during or after [rarebleedingdisorders.com]

  SYMPTOMS • Skin bleeding • Menorrhagia • Bleeding in the mouth • Abnormal bleeding during or after injury, surgery, or childbirth TREATMENT: Desmopressin Factor VIII concentrate Fresh frozen plasma 44. [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]

• Amenorrhea

  At 39 weeks of amenorrhea, the patient was admitted to the labor room. [ncbi.nlm.nih.gov]

• Liver Biopsy

  Combined factor IX and XI deficiency discovered at liver biopsy. Dig Dis Sci. 1997;42:1731-1733. 5. Weston BW, Monahan PE. Familial deficiency of vitamin K-dependent clotting factors. Haemophilia. 2008;14:1209-1213. 6. [hematologyandoncology.net]

These tests should be performed by a specialist at a hemophilia/bleeding disorders treatment centre. Treatment There are three treatments available for combined factor V and factor VIII deficiency. [wfh.org]

Treatment of bleeding episodes requires a source of both FV and FVIII; replacement of FV is achieved only through use of fresh-frozen plasma (FFP) and replacement of FVIII by FFP and desmopressin or specific FVIII concentrates (plasma-derived or recombinant [ncbi.nlm.nih.gov]

Management and treatment Management aims at controlling the bleeding and includes treatments with fresh frozen plasma and desmopressin administration. Prognosis The prognosis is favorable for moderate forms of the disease. [orpha.net]

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]

Prognosis All the mentioned therapeutic options make VKCFD a disease with good prognosis and a low impact on the quality of life, with permanent disabling consequences only resulting in severely affected patients who have been diagnosed after critical [ojrd.biomedcentral.com]

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 Mutations in a sorting receptor that recognizes carbohydrate ligands were characterized as the cause of the combined deficiency of coagulation factors V and VIII. [humpath.com]

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]

If a hereditary etiology for the decrease appears likely, the diagnosis can be confirmed by measuring the factor in relatives. [mghlabtest.partners.org]

[…] 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]

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]

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]

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]

Amy Geddis at [email protected] » 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]

EPIDEMIOLOGY It is estimated that about 3% of the world population has factor V Leiden, and most of the people with this predisposing factor will not manifest clinical problems of thrombosis. [flipper.diff.org]

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]

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]

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]

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]

[…] 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]

This is known as replacement therapy, and it can be used to prevent bleeding or to stop bleeding when it occurs. [flipper.diff.org]

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]

Inherited thrombophilia: implications for prevention and treatment of venous thromboembolism. Semin Thromb Hemost 2009; 35 : 683–694. 188. Bezemer ID, Doggen CJ, Vos HL, Rosendaal FR. [nature.com]

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]