Presentation
This article presents a case of congenital afibrinogenemia, which presented as cellulitis on the face. [ncbi.nlm.nih.gov]
Hematological
-
Easy Bruising
Afibrinogenemia Common Symptoms nosebleeds (epistaxis) easy bruising heavy or prolonged menstrual bleeding (menorrhagia) muscle bleeds bleeding into joints (hemarthrosis) bleeding from the umbilical cord stump after birth bleeding in the mouth, particularly [wfh.org]
bruising, mucosal bleeding, GI / GU bleeding, hemarthrosis, intracranial hemorrhage, recurrent fetal loss, menorrhagia, menometrorrhagia, placental abruption or postpartum hemorrhage; rarely patients can have hemopericardium, hemoperitoneum or spontaneous [pathologyoutlines.com]
Aside from the fact that women have similar symptoms to men with bleeding disorders (recurrent nosebleeds, easy bruising, bleeding from the digestive or urinary tract and excessive bleeding from the mouth or gums), they can also experience added obstetric [rarediseases.info.nih.gov]
Skin
-
Purpura
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]
Hematologic disease Brite Human diseases [BR: br08402 ] Cardiovascular diseases Hematologic diseases H00222 Afibrinogenemia Human diseases in ICD-11 classification [BR: br08403 ] 03 Diseases of the blood or blood-forming organs Coagulation defects, purpura [genome.jp]
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]
-
Skin Bleeding
Common signs and symptoms include: Umbilical cord bleeding Swelling, pain, or warmth around a joint Inability to straighten or bend a joint normally Muscle, head, or neck ache Tight and shiny appearance of skin Bleeding into the skin Upset stomach Vomit [rarebleedingdisorders.com]
Neurologic
-
Somnolence
A 37-year-old woman with congenital afibrinogenemia presented with chronic subdural hematoma (CSDH) manifesting as severe headache, nausea, and somnolence after a minor head trauma. [ncbi.nlm.nih.gov]
Abstract A 37-year-old woman with congenital afibrinogenemia presented with chronic subdural hematoma (CSDH) manifesting as severe headache, nausea, and somnolence after a minor head trauma. [jstage.jst.go.jp]
-
Tingling
Upset stomach Vomit that is black and syrupy or bright red or coffee ground in appearance Difficulty with urination or bowel movements Blood in the urine Red- or black-colored stool Drowsiness or loss of consciousness Sensitivity to light Weakness, tingling [rarebleedingdisorders.com]
Workup
In some laboratories, the routine workup for the bleeding neonate may not always include fibrinogen assays, which may then delay this diagnosis. [ncbi.nlm.nih.gov]
Biopsy
-
Hepatocellular Carcinoma
Among the causes of spontaneous intrahepatic bleeding, the most common are hepatocellular carcinoma and hepatic adenoma. The diagnosis of hepatocellular carcinoma has been discarded on CT images. [journals.lww.com]
Treatment
Diagnostic tests should be performed by a specialist at a hemophilia/bleeding disorders treatment centre. Treatment There are three treatments available for factor I deficiency. All are made from human plasma. [wfh.org]
Treatment may also be given to prevent the formation of blood clots, as this complication can occur after replacement therapy. Many people who have hypofibrinogenemia or dysfibrinogenemia may not need treatment. [rarebleedingdisorders.com]
Complications may include: Blood clots with treatment Development of antibodies (inhibitors) to fibrinogen with treatment Gastrointestinal bleeding Miscarriage Rupture of the spleen Slow healing of wounds Call your provider or seek emergency care if you [nlm.nih.gov]
506-860-2341 Fax: 506-857-5775 The hemophilia treatment centres for patients living in Prince Edward Island are located in Nova Scotia and New Brunswick. Clinic directors Dr. Sue Robinson Dr. [hemophilia.ca]
Hemostatic treatment for splenic rupture using heat- and solvent detergent-treated fibrinogen concentrates was effective. [ncbi.nlm.nih.gov]
Prognosis
Prognosis Prognosis is good for patients with congenital dysfibrinogenemias. Events of bleeding or thrombosis are usually relatively mild. Acquired dysfibrinogenemia carries a worse prognosis because it is due to a severely damaged liver. [emedicine.medscape.com]
Prognosis Although life-threatening intracranial hemorrhage may occur, prognosis of afibrinogenemia is good with early diagnosis and adequate treatment. Prognosis of hypo- or dysfibrinogenemia is usually good. [orpha.net]
Each chapter in this volume is organized in the same easy-to-follow format, comprising definitions, incidence, etiology, clinical presentation, diagnosis, management, prognosis, and references. [books.google.com]
Etiology
[…] frequent than afibrinogenemia, but prevalence is difficult to establish due to the large number of asymptomatic patients Sites Bleeding of skin and mucosa, joint and muscle, genitourinary tract, gastrointestinal tract, CNS (see clinical features below) Etiology [pathologyoutlines.com]
The abnormal fibrinogen in these patients forms a fibrin clot that is resistant to fibrinolysis by plasmin. [6] Etiology Congenital dysfibrinogenemias are most often inherited in an autosomal dominant or codominant fashion. [emedicine.medscape.com]
Etiology Congenital deficiencies of fibrinogen are caused by mutations in the FGA, FGB, or FGG genes. Afibrinogenemia is autosomal recessive; hypofibrinogenemia and dysfibrinogenemia are mainly autosomal dominant. [orpha.net]
This practical text covers disorders of thrombosis and hemostasis in a logical and sequential manner: etiology, pathophysiology, clinical and laboratory diagnosis, and management. [books.google.com]
Epidemiology
[…] milder form of fibrinogen deficiency; patients have fibrinogen levels 1.5 g/L Dysfibrinogenemia is the synthesis of abnormal fibrinogen molecules Hypodysfibrinogenemia is characterized by both low levels of fibrinogen and abnormal fibrinogen molecules Epidemiology [pathologyoutlines.com]
Epidemiology Congenital dysfibrinogenemia has been reported in only 200-300 families. Transmission is autosomal dominant or codominant, except in a few cases that appear to be transmitted recessively. [emedicine.medscape.com]
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]
Pathophysiology
Congenital afibrinogenemia (CA) is a disease characterized by a complex pathophysiology, involving both the procoagulant and fibrinolytic systems, as well as platelet activity. [ncbi.nlm.nih.gov]
Abstract Purpose of review New insights into the pathophysiology of trauma-induced coagulopathy, the increasing availability of point-of-care devices and awareness of side effects of intravenous fluids and traditional fresh frozen plasma therapy has encouraged [dx.doi.org]
Pathophysiology In the clotting cascade, the various blood coagulation factors function in concert to produce a balance between fibrin clot formation and its subsequent degradation. [emedicine.medscape.com]
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]
Prevention
Excessive menstrual bleeding in women with factor I deficiency may be controlled with hormonal therapy (oral or local) and drugs that prevent breakdown of blood clots (anti-fibrinolytic drugs). [rarebleedingdisorders.com]
In addition, expression of Bbeta, gamma and angiopoietin-2 chimeric molecules demonstrated that the betaC domain prevents the secretion of single chains and complexes, whereas the gammaC domain allows their secretion. [ncbi.nlm.nih.gov]
Fibrinogen concentrate Cryoprecipitate Fresh frozen plasma (FFP) Treatment may also be given to prevent the formation of blood clots, as this complication can occur after fibrinogen replacement therapy. [wfh.org]