Osteogenesis imperfecta - multi-systemic and life-long disease that affects whole family [Osteogenesis imperfecta - više-sustavna, doživotna bolest i njen utjecaj na obitelj]

Primorac, Dragan and Antičević, Darko and Barišić, Ingeborg and Hudetz, Damir and Ivković, Alan (2014) Osteogenesis imperfecta - multi-systemic and life-long disease that affects whole family [Osteogenesis imperfecta - više-sustavna, doživotna bolest i njen utjecaj na obitelj]. Collegium Antropologicum, 38 (2). pp. 767-772. ISSN 0350-6134

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Abstract

Osteogenesis imperfecta or brittle bone disease, a heritable disorder of connective tissue, is the most common of the inherited disorders primarily affecting bone. There are approximately 400 individuals with OI in Croatia alone. It is estimated that twice that number is present, represented by individuals with mild OI in whom the diagnosis has not been made. Due to the relatively low number of patients in the general population, treating physicians have limited experience with this disease, either with children or adults. The basis of this disease in European populations is mostly the result of defects in the structure or processing of collagen type I, an important protein of the extracellular matrix of many tissues. Presently, molecular defects in 16 different genes have been discovered to result in at least one type of OI of which 14 are not COL1 mutation loci. Although fractures occurring with no injury or minor injury are the hallmark of OI, other non-mineralized tissues can be affected as well and the pathological changes can be present in skin, tendons, eyes, teeth and blood vessels. Clinical manifestations are very heterogeneous and numerous signs and symptoms such as blue sclera, deafness, abnormal teeth development, joint hypermobility, increased risk of hernias, capillary fragility, aneurysms etc. Although there is no cure for this disease, there are specific therapies that can reduce the pain and complications associated with OI. The purpose of this review is to provide a brief overview of the molecular basis of this disease, describe clinical presentations, as well as to present orthopaedic therapeutic modalities for the patients with OI.

Abstract in Croatian

Osteogenesis imperfecta (OI) ili bolest krhkih kostiju najčešća je nasljedna bolest koja primarno pogađa koštano tkivo. Prema dostupnim podacima u Hrvatskoj od OI boluje oko 400 pojedinaca, a procjenjuje se da još dvostruko toliko ljudi boluje od blažeg oblika bolesti, te stoga niti dijagnoza nije postavljena. Kako se radi o relativnom malom broju oboljelih, većina liječnika ima ograničeno iskustvo u liječenju ovih bolesnika, bilo da se radi o djeci ili o odraslima. U podlozi OI nalazi se abnormalna sinteza kolagena, koji je glavni protein izvanstaničnog matriksa mnogih tkiva. Iako kliničkom slikom dominiraju prijelomi, zahvaćena su i nemineralizirana tkiva te se promjene očituju na koži, tetivama, bjeloočnicama, zubima i krvnim žilama. Klinička slika je vrlo heterogena te se mogu pojaviti znakovi i simptomi kao što su plavkasta obojenost bjeloočnica, gluhoća, poremećaj u razvoju zuba, povećan opseg pokreta u zglobovima (hiperlaksitet) i elasticitet kože, sklonost hernijama (kilama), krhkost kapilara, aneurizme, mlohavost srčanih zalistaka i dr. Iako ne postoji mogućnost izliječenja ovih bolesnika, na raspolaganju nam stoji čitav niz specifičnih terapeutskih procedura koje mogu smanjiti bol i komplikacije povezane s osnovnom bolešću, te značajno povećati kvalitetu života bolesnika s OI. Cilj ovog preglednog članka je prikazati molekularnu osnovu bolesti, opisati kliničku sliku te prikazati najosnovnije modalitete ortopedskog liječenja pacijenata s OI.

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