Hypodysfibrinogenemia
A rare blood disorder affecting fibrinogen function
Hypodysfibrinogenemia | |
---|---|
[[File:|250px|alt=|]] | |
Synonyms | Congenital hypodysfibrinogenemia |
Pronounce | |
Field | Hematology, Medical genetics |
Symptoms | Easy bruising, excessive bleeding, prolonged bleeding after injury or surgery, rarely thrombosis |
Complications | Severe hemorrhage, thromboembolic events, miscarriage in women |
Onset | At birth or early childhood |
Duration | Lifelong |
Types | Congenital (inherited) |
Causes | Mutations in genes encoding fibrinogen chains: FGA, FGB, or FGG |
Risks | Family history of fibrinogen disorders |
Diagnosis | Coagulation studies, fibrinogen activity and antigen tests, genetic testing |
Differential diagnosis | Afibrinogenemia, dysfibrinogenemia, hypofibrinogenemia, von Willebrand disease |
Prevention | None; genetic counseling may help in family planning |
Treatment | Fibrinogen replacement therapy during bleeding episodes or surgery |
Medication | Fibrinogen concentrate, cryoprecipitate, fresh frozen plasma |
Prognosis | Variable; generally good with proper management, though complications may occur |
Frequency | Rare |
Deaths | Rare, usually associated with severe hemorrhagic complications |
Hypodysfibrinogenemia is a rare coagulation disorder characterized by the presence of abnormal fibrinogen molecules in the blood. Fibrinogen is a crucial glycoprotein involved in the blood clotting process, and abnormalities in its structure or function can lead to bleeding or thrombotic complications.
Pathophysiology[edit | edit source]
Fibrinogen is synthesized in the liver and plays a vital role in hemostasis. It is converted by thrombin into fibrin, which forms a mesh that stabilizes the initial platelet plug during the clotting process. In hypodysfibrinogenemia, mutations in the fibrinogen gene lead to the production of structurally abnormal fibrinogen molecules. These abnormalities can affect the molecule's ability to be converted into fibrin or to form a stable clot, resulting in a bleeding tendency or, paradoxically, an increased risk of thrombosis.
Clinical Presentation[edit | edit source]
Patients with hypodysfibrinogenemia may present with a variety of symptoms, ranging from mild to severe bleeding episodes. Common manifestations include:
- Easy bruising
- Epistaxis (nosebleeds)
- Menorrhagia (heavy menstrual bleeding)
- Prolonged bleeding after surgery or trauma
In some cases, patients may also experience thrombotic events, such as deep vein thrombosis or pulmonary embolism, due to the abnormal fibrinogen's impact on clot stability and dissolution.
Diagnosis[edit | edit source]
The diagnosis of hypodysfibrinogenemia involves a combination of clinical evaluation and laboratory testing. Key diagnostic tests include:
- Coagulation profile: Prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT) may be observed.
- Fibrinogen activity assay: Measures the functional activity of fibrinogen in the blood.
- Fibrinogen antigen assay: Quantifies the amount of fibrinogen present.
- Genetic testing: Identifies mutations in the fibrinogen gene that are responsible for the disorder.
Management[edit | edit source]
The management of hypodysfibrinogenemia focuses on preventing and treating bleeding episodes. Treatment options may include:
- Fibrinogen concentrate: Used to replace deficient or dysfunctional fibrinogen during bleeding episodes or prophylactically before surgery.
- Fresh frozen plasma: Contains fibrinogen and other clotting factors, used in acute bleeding situations.
- Antifibrinolytic agents: Such as tranexamic acid, to prevent the breakdown of clots.
Patients with a history of thrombotic events may require anticoagulation therapy under careful monitoring.
Prognosis[edit | edit source]
The prognosis for individuals with hypodysfibrinogenemia varies depending on the severity of the condition and the presence of complications. With appropriate management, many patients can lead normal lives, although they may require ongoing monitoring and treatment to prevent bleeding or thrombotic events.
Related pages[edit | edit source]
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD's Wellness Encyclopedia |
Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD