Hemophilic Arthropathy—Pathophysiology and Advances in Treatment

Hemophilia is an X-linked genetic disorder that predominantly affects males, with females typically serving as asymptomatic carriers. Hemophilia A results from a deficiency or dysfunction of coagulation factor VIII, while a deficiency in factor IX causes hemophilia B. A less common condition, factor...

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Main Authors: Katarina Kovač, Ivan Ljudevit Caktaš, Nataša Kalebota, Porin Perić
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Rheumato
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Online Access:https://www.mdpi.com/2674-0621/5/2/5
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author Katarina Kovač
Ivan Ljudevit Caktaš
Nataša Kalebota
Porin Perić
author_facet Katarina Kovač
Ivan Ljudevit Caktaš
Nataša Kalebota
Porin Perić
author_sort Katarina Kovač
collection DOAJ
description Hemophilia is an X-linked genetic disorder that predominantly affects males, with females typically serving as asymptomatic carriers. Hemophilia A results from a deficiency or dysfunction of coagulation factor VIII, while a deficiency in factor IX causes hemophilia B. A less common condition, factor XI deficiency (formerly hemophilia C), is categorized as a rare bleeding disorder. The severity of hemophilia is classified based on the activity concentration of factors VIII and IX: severe (<1 IU/dL), moderate (1–5 IU/dL), and mild (6–<40 IU/dL). One of the most prevalent complications of hemophilia is hemarthrosis, bleeding into joint cavities, which, if unrecognized or untreated, can lead to hemophilic arthropathy. The pathophysiology of hemophilic arthropathy involves two key mechanisms: the accumulation of iron from blood in synovial joints, which cannot be cleared due to repeated bleeding, and the inflammatory response, resulting in synovial hyperplasia and the progressive destruction of cartilage and bone. Hemophilic arthropathy significantly impairs quality of life, causing chronic pain, joint deformities, and sometimes requiring surgical intervention. This thesis will examine the pathophysiology and management strategies for hemophilic arthropathy.
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spelling doaj-art-7f136e72a2914562aaabb36dcdca5b5f2025-08-20T03:27:32ZengMDPI AGRheumato2674-06212025-04-0152510.3390/rheumato5020005Hemophilic Arthropathy—Pathophysiology and Advances in TreatmentKatarina Kovač0Ivan Ljudevit Caktaš1Nataša Kalebota2Porin Perić3School of Medicine Zagreb, University of Zagreb, 10 000 Zagreb, CroatiaClinic for Rheumatic Diseases and Rehabilitation, University Hospital Centre Zagreb, 10 000 Zagreb, CroatiaSchool of Medicine Zagreb, University of Zagreb, 10 000 Zagreb, CroatiaSchool of Medicine Zagreb, University of Zagreb, 10 000 Zagreb, CroatiaHemophilia is an X-linked genetic disorder that predominantly affects males, with females typically serving as asymptomatic carriers. Hemophilia A results from a deficiency or dysfunction of coagulation factor VIII, while a deficiency in factor IX causes hemophilia B. A less common condition, factor XI deficiency (formerly hemophilia C), is categorized as a rare bleeding disorder. The severity of hemophilia is classified based on the activity concentration of factors VIII and IX: severe (<1 IU/dL), moderate (1–5 IU/dL), and mild (6–<40 IU/dL). One of the most prevalent complications of hemophilia is hemarthrosis, bleeding into joint cavities, which, if unrecognized or untreated, can lead to hemophilic arthropathy. The pathophysiology of hemophilic arthropathy involves two key mechanisms: the accumulation of iron from blood in synovial joints, which cannot be cleared due to repeated bleeding, and the inflammatory response, resulting in synovial hyperplasia and the progressive destruction of cartilage and bone. Hemophilic arthropathy significantly impairs quality of life, causing chronic pain, joint deformities, and sometimes requiring surgical intervention. This thesis will examine the pathophysiology and management strategies for hemophilic arthropathy.https://www.mdpi.com/2674-0621/5/2/5joint diseasesfactor VIII deficiencyfactor IX deficiencyhemophilia Ahemophilia Bsynovitis
spellingShingle Katarina Kovač
Ivan Ljudevit Caktaš
Nataša Kalebota
Porin Perić
Hemophilic Arthropathy—Pathophysiology and Advances in Treatment
Rheumato
joint diseases
factor VIII deficiency
factor IX deficiency
hemophilia A
hemophilia B
synovitis
title Hemophilic Arthropathy—Pathophysiology and Advances in Treatment
title_full Hemophilic Arthropathy—Pathophysiology and Advances in Treatment
title_fullStr Hemophilic Arthropathy—Pathophysiology and Advances in Treatment
title_full_unstemmed Hemophilic Arthropathy—Pathophysiology and Advances in Treatment
title_short Hemophilic Arthropathy—Pathophysiology and Advances in Treatment
title_sort hemophilic arthropathy pathophysiology and advances in treatment
topic joint diseases
factor VIII deficiency
factor IX deficiency
hemophilia A
hemophilia B
synovitis
url https://www.mdpi.com/2674-0621/5/2/5
work_keys_str_mv AT katarinakovac hemophilicarthropathypathophysiologyandadvancesintreatment
AT ivanljudevitcaktas hemophilicarthropathypathophysiologyandadvancesintreatment
AT natasakalebota hemophilicarthropathypathophysiologyandadvancesintreatment
AT porinperic hemophilicarthropathypathophysiologyandadvancesintreatment