Related Experiment Video
Updated: Jan 2, 2026
07:09
Experimental and Imaging Techniques for Examining Fibrin Clot Structures in Normal and Diseased States
Published on: April 1, 2015
11.9K
Congenital structural and functional fibrinogen disorders: a primer for internists
Anetta Undas1, Alessandro Casini2
1Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland. mmundas@cyf-kr.edu.pl
Polish Archives of Internal Medicine
|December 5, 2019
Summary
Congenital fibrinogen disorders, rare genetic conditions, can cause bleeding or thrombosis. Diagnosis relies on fibrinogen antigen levels and genetic testing, not routine coagulation tests.
Area of Science:
- Genetics and Hematology
- Rare Diseases
- Coagulation Disorders
Background:
- Congenital fibrinogen disorders are rare genetic abnormalities affecting fibrinogen production.
- These disorders account for 8% of rare coagulation factor deficiencies and can present with bleeding, thrombosis, or other complications.
- Symptoms range from mild bleeding (hypofibrinogenemia) to severe (afibrinogenemia), while dysfibrinogenemia can be asymptomatic or associated with bleeding/thrombosis.
Purpose of the Study:
- To review practical aspects of diagnosing and managing congenital fibrinogen disorders.
- To provide an internist's perspective on recognizing and managing these rare conditions.
- To highlight current diagnostic recommendations and clinical considerations.
Main Methods:
- Review of current literature and clinical guidelines.
- Focus on diagnostic workup and patient management strategies.
- Emphasis on fibrinogen antigen measurement and genetic analysis.
Main Results:
- Congenital fibrinogen disorders are caused by mutations in fibrinogen genes on chromosome 4q28.
- Diagnosis should prioritize fibrinogen antigen levels and genetic analysis over routine coagulation tests.
- Patients may present with bleeding, thrombotic events, impaired wound healing, or recurrent abortions.
Conclusions:
- Internists play a role in identifying patients with congenital fibrinogen disorders.
- Awareness of clinical and laboratory findings, including thromboembolism risk, is crucial for internists.
- Management requires a comprehensive approach considering the specific type of fibrinogen disorder.
Related Concept Videos
01:30Anticoagulant Drugs: Low-Molecular-Weight Heparins
1.5K
Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
1.5K
01:16Clot Retraction and Fibrinolysis
8.1K
After a fibrin clot is formed, the next step is clot retraction, a vital process facilitated by platelet contractile proteins, such as actin and myosin. These proteins pull the fibrin strands closer together and condense the clot. This action reduces the size of the clot, creating a smaller, denser structure that effectively seals off the damaged vessel. Clot retraction consolidates the clot and helps with wound healing by bringing the edges of the damaged blood vessel closer together.
8.1K
01:24Disorders of Hemostasis
1.9K
Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
1.9K
01:20Extrinsic and Intrinsic Pathways of Hemostasis
11.6K
Blood clotting or coagulation involves extrinsic and intrinsic pathways, which ultimately merge into the common pathway, forming a fibrin clot.
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which...
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which...
11.6K
01:11Fibril-associated Collagen
3.2K
Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
3.2K
01:31Types of Intermediate Filaments
4.6K
The intermediate filaments are an essential component of the cytoskeleton. Presently six types of intermediate filament have been identified. Type I and II are acidic and basic keratin proteins. Type III is of mesodermal origin and comprises four proteins: vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Vimentin is commonly found in mesenchymal cells, desmin in muscle cells, GFAP in astrocytes, while peripherin is found in peripheral nervous system neurons (PNS). Type...
4.6K