Novel Insights Into Congenital and Acquired Coagulopathies – ICHCC
Iranian Comprehensive Hemophilia Care Center (ICHCC) shared a post on LinkedIn about a recent article by Rabab Al Dawood et al, published in Pathology, adding:
“Laboratory diagnosis of congenital and acquired coagulopathies, including challenging-to-diagnose rare bleeding disorders.
Coagulation factors, anticoagulant proteins, and fibrinolytic proteins are important for hemostasis and may be altered by inherited and acquired conditions.
Common causes of coagulopathies include vitamin K (VK) deficiency (VKD), liver disease, lupus anticoagulants, consumption or disseminated intravascular coagulation, and much less commonly, an inherited or an acquired autoimmune coagulopathy.
VKD typically accounts for more than 30 percent of all coagulopathy referrals, and VKD is particularly common among infants but can occur at any age and in combination with other coagulopathies.
Tests for fibrinogen help assess both congenital and acquired coagulopathies, with low levels predictive of poor outcomes from diverse conditions including trauma and postpartum hemorrhage.
Inherited factor deficiencies are rarer, and some affect multiple coagulation factors (F), such as combined FV and FVIII deficiency, familial deficiencies of VK-dependent clotting factors, and congenital disorders of glycosylation.
Additionally, there are some rare but important disorders that uniquely impair the procoagulant/anticoagulant balance, including F5 mutations that markedly increase tissue factor pathway inhibitor in plasma, causing prolonged prothrombin and activated partial thromboplastin times, without factor deficiencies.
THBD mutations that increase functional, soluble thrombomodulin in plasma can also cause bleeding.
Other THBD mutations cause thrombomodulin deficiency and a consumptive coagulopathy.
Bleeding disorders that result from pathogenic changes to fibrinolysis include autosomal recessive, loss-of-function mutations in SERPINE1 and SERPINF2 and an autosomal dominant gain-of-function mutation affecting PLAU, in the case of Quebec platelet disorder, which causes platelet-dependent increased fibrinolysis.
Laboratories need to consider strategies for diagnosing these different conditions.”
Title: Laboratory diagnosis of congenital and acquired coagulopathies, including challenging-to-diagnose rare bleeding disorders
Authors: Rabab Al Dawood, Catherine P.M. Hayward
Stay updated on all scientific advances with Hemostasis Today.
-
Oct 10, 2026, 17:58Archo Farzana Batool: Exploring Medical Writing Through an Article on Iron Deficiency Anemia
-
Oct 10, 2026, 17:53Assessing Frailty in Adults With Hemophilia – JTH
-
Oct 10, 2026, 17:52Fatma Sadeghi: Reducing Maternal Health Inequalities Through Nursing Advocacy
-
Oct 10, 2026, 17:50Grzegorz Hensler: How Apheresis Transformed Blood Cell Separation and Collection
-
Oct 10, 2026, 17:47Hemant K Sharma: Japan’s Universal Artificial Blood Research – A Potential Breakthrough in Transfusion Medicine
-
Oct 10, 2026, 17:40John Strouse: Learning About Bleeding Disorders and Sickle Cell Disease at FWGBD
-
Oct 10, 2026, 17:34Mae Caime: Speaking at the Annual Women’s Retreat for the Hemophilia Community in Florida
-
Oct 10, 2026, 17:30Chokri Ben Lamine: PNH beyond the Textbook Triad
-
Oct 10, 2026, 17:29Ruah Alyamany: Thrombosis and Anticoagulation in Hematological Malignancies at SOHO KSA 2026