Hemofilična artropatija - patofiziologija i liječenje

master's thesis

• Title (english): Hemophilic arthropathy - pathophysiology and treatment
• Author: Katarina Kovač
• Mentor: Porin Perić (mentor)
• Committee member: Iva Žagar (predsjednik povjerenstva)
• Committee member: Borislav Belev (član povjerenstva)
• Committee member: Porin Perić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2024-07-12, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Physical Medicine and Rehabilitation

Abstract

Hemofilija je X vezana nasljedna bolest, oboljele su pretežito osobe muškog spola, a prenositeljice su uglavnom heterozigoti tj. osobe ženskog spola. Hemofilija A nastaje zbog disfunkcije ili nedostatka koagulacijskog faktora VIII, a Hemofilija B zbog faktora IX. Deficijencija faktora XI, nekad zvana hemofilija C spada u skupinu rijetkih poremećaja krvarenja. Klasifikacija hemofilija se temelji na aktivnosti faktora VIII i IX: teška (<1 IU/dL), 1 umjerena (1 - 5 IU/dL) i blaga (6 - <40 IU/dL). Jedno od najčešćih komplikacija hemofilije je hemartoza odnosno krvarenje u zglobove. Ako se ne prepozna i liječi, čak i subklinička hemartoza može dovest do nastanka artropatije. Patofiziologija hemofilične artropatije se sastoji od dva glavna mehanizma nastanka. Prvi je kemijska reakcija koja nastaje zbog nakupljanja željeza iz krvi, a koje zbog učestalih krvarenja stanice sinovije zgloba nisu u mogućnosti uklonit. Drugi mehanizam je upala, potaknuta kemijskom reakcijom zbog hiperplazije sinovije te destrukcije hrskavice i kosti. Hemofilična artropatija značajno smanjuje kvalitetu života, uzrokuje kroničnu bol i deformacije zglobova što ponekad zahtjeva operativno liječenje. Sprječavanje nastanka hemartroze primarno se temelji na profilaktičkom liječenju hemofilije. Danas su na tržištu brojni lijekovi koji reduciraju broj slučajeva u pacijenata koji boluju od hemofilije. Osim prevencije, nastalu artropatiju je potrebno liječiti konzervativno i/ili kirurški. Cilj ovog diplomskog rada je opisati patofiziologiju nastanka hemofiličke artrpatiju te njeno liječenje.

Abstract (english)

Hemophilia is an X-linked inherited disorder, predominantly affecting males, while carriers are typically heterozygous females. Hemophilia A results from dysfunction or deficiency of coagulation factor VIII, while hemophilia B arises from factor IX deficiency. Deficiency of factor XI, formerly known as hemophilia C, has been recategorized under rare bleeding disorders. The classification of hemophilia is based on the activity of factors VIII and IX: severe (<1 IU/dL), moderate (1 - 5 IU/dL), and mild (6 - <40 IU/dL). Frequent bleeding in joints (hemarthrosis) is one of hemophilia's most common clinical complications. If unrecognized and untreated, even subclinical hemarthrosis can lead to the development of arthropathies. The pathophysiology of hemophilic arthropathy involves two main mechanisms. The first is a chemical reaction resulting from the iron accumulation from the blood, which, due to frequent bleeding, synovial cells of the joint aren’t able to remove. The second mechanism involves inflammation, triggered by the chemical reaction due to synovial hyperplasia and the destruction of cartilage and bone. Hemophilic arthropathy significantly reduces the quality of life, causing chronic pain and joint deformities, sometimes necessitating surgical intervention in the treatment. Preventing the occurrence of hemarthrosis largely relies on prophylactic treatment of hemophilia. Today, numerous medications are available on the market that have reduced hemophilic arthropathy in patients with hemophilia. In addition to prevention, existing arthropathy requires conservative and/or surgical treatment. This thesis aims to describe the pathophysiology of hemophilic arthropathy and its treatment.

• Keywords: Bolest Zglobova; Faktor VIII Deficijencija; Faktor IX Deficijencija; Hemofilija A; Hemofilija B; Sinovitis
• Keywords (english): Joint Diseases; Factor VIII Deficiency; Factor IX Deficiency; Hemophilia A; Hemophilia B; Synovitis
• Language: croatian
• URN:NBN: urn:nbn:hr:105:401913
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2024-06-17 09:05:22