Related Experiment Video

Updated: Jun 16, 2025

Experimental and Imaging Techniques for Examining Fibrin Clot Structures in Normal and Diseased States
07:09

Experimental and Imaging Techniques for Examining Fibrin Clot Structures in Normal and Diseased States

Published on: April 1, 2015

11.4K

Clinical, Laboratory, and Molecular Aspects of Congenital Fibrinogen Disorders

Alessandro Casini1, Philippe de Moerloose2, Marguerite Neerman-Arbez3

  • 1Division of Angiology and Hemostasis, University Hospitals of Geneva, Geneva, Switzerland.

Seminars in Thrombosis and Hemostasis
|August 16, 2024
PubMed

Insights

Congenital fibrinogen disorders (CFDs) encompass various types, impacting clotting and bleeding. Diagnosis relies on fibrinogen levels and genotype, with new genetic insights guiding personalized risk assessment.

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Congenital fibrinogen disorders (CFDs) are a group of inherited conditions affecting fibrinogen function.
  • These disorders include afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia, each presenting unique clinical challenges.

Purpose of the Study:

  • To summarize the diagnostic approaches for various congenital fibrinogen disorders.
  • To highlight the clinical manifestations, including bleeding and thrombotic risks.
  • To discuss the role of fibrinogen in pregnancy and the impact of CFDs on obstetrical outcomes.

Main Methods:

  • Diagnosis involves measuring fibrinogen activity and antigen levels.
  • Genotyping is crucial for identifying specific fibrinogen variants and understanding disorder subtypes.
  • Analysis of fibrin clot properties and application of next-generation sequencing for genetic modifiers.

Main Results:

  • Quantitative and qualitative fibrinogen defects typically lead to reduced clot formation and bleeding tendencies.
  • Bleeding severity correlates with fibrinogen concentration.
  • Paradoxically, patients with CFDs face an increased risk of thrombotic events, influenced by mutation impact on fibrinogen structure and levels.
  • Women with CFDs are at higher risk for adverse obstetrical outcomes.

Conclusions:

  • Accurate diagnosis of CFDs requires a combination of functional assays, antigen measurements, and genetic analysis.
  • Understanding the interplay between fibrinogen mutations, clot structure, and clinical phenotype is essential for risk stratification.
  • Next-generation sequencing aids in identifying genetic modifiers, paving the way for precision medicine in managing these heterogeneous disorders.

More Related Videos

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay13:08

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

18.9K
Leveraging Turbidity and Thromboelastography for Complementary Clot Characterization06:28

Leveraging Turbidity and Thromboelastography for Complementary Clot Characterization

Published on: June 4, 2020

6.8K

Related Concept Videos

Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant Drugs: Low-Molecular-Weight Heparins

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...
654
Clot Retraction and Fibrinolysis01:16

Clot Retraction and Fibrinolysis

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.
5.0K
Disorders of Hemostasis01:24

Disorders of Hemostasis

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.
758
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
199
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining,...
9.3K
Extrinsic and Intrinsic Pathways of Hemostasis01:20

Extrinsic and Intrinsic Pathways of Hemostasis

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...
6.6K