| Abstract | Hemofilija je rijetka nasljedna bolest koju karakterizira sklonost prema spontanim
krvarenjima u mišiće i zglobove, s posljedičnim razvojem hemofilične artropatije i
invalidnosti. Ovo istraživanje smo proveli s ciljem procjene koštanog statusa i
dinamike koštane pregradnje u bolesnika s hemofilijom, te procjene rizičnih faktora
koji mogu utjecati na razvoj smanjene mineralne gustoće kosti.
Istraživanjem smo obradili 58 bolesnika s teškom, umjerenom i blagom hemofilijom
A, te jednog bolesnika s hemofilijom B. U svrhu procjene koštanog statusa
bolesnicima je učinjeno mjerenje mineralne gustoće kosti metodom denzitometrije i
metodom kvantitativnog ultrazvuka petne kosti. Procjena dinamike koštane
pregradnje je učinjena određivanjem markera koštane izgradnje (osteokalcina i
koštane alkalne fosfataze) i markera koštane razgradnje (β-crosslaps). U svrhu
procjene rizičnih faktora bolesnicima je učinjen serološki status infekcije virusom
hepatitisa C, određena prisutnost protutijela na FVIII te zabilježen broj ciljnih
zglobova. Među bolesnicima s hemofilijom je urednu mineralnu gustoću kosti imalo
43% bolesnika, osteopeniju 48%, a osteoporozu 9% bolesnika. Mineralna gustoća
kosti je bila značajno snižena u bolesnika s hemofilijom u usporedbi sa zdravim
kontroloma (p=0,002), te nije ovisila o prisutnosti protutijela na VIII, infekciji
virusom hepatitisa C niti broju ciljnih zglobova. Mjereno kvantitativni ultrazvukom
petne kosti, bolesnici s hemofilijom su imali značajno niže vrijednosti parametara
QUI, BUA i SOS u usporedbi sa zdravim kontrolama (p>0,000). Ove vrijednosti su
ovisile o težini hemofilije (p=0,001) i broju zahvaćenih ciljnih zglobova, ali ne i o
prisutnosti protutijela na FVIII ili infekciji virusom hepatitisa C.
Ovim smo istraživanjem pokazali da bolesnici koju boluju od hemofilije imaju visoki
rizik nastanka osteopenije i osteoporoze. Rizik smanjenja mineralne gustoće kosti
ovisi o težini hemofilije, te ne ovisi o prisutnosti protutijela na faktor VIII niti o
infekciji virusom hepatitisa C. Metoda kvantitativnog ultrazvuka petne kosti je nakon
modifikacije prijelomne T-vrijednosti za definiciju osteopenije i osteoporoze
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pokazala visoku osjetljivost i specifičnost u otkrivanju smanjene mineralne gustoće
kosti u bolesnika s hemofilijom. |
| Abstract (english) | Hemophilia is a rare inherited disorder characterized by spontaneous bleedings into
joints and muscles, with development of a typical hemophilic arthropathy. Several
studies have shown that patients with hemophilia have reduced bone mineral density,
but the etiology is unclear. We evaluated the incidence of ostoporosis and
investigated possible risk factors for development of reduced mineral bone density in
hemophilia patients.
We evaluated 58 patients with severe, mild and moderate hemophilia A and B. Bone
mineral density was measured with dual-energy X-ray absorptiomery and
quantitative ultrasound of the heel. Bone turnover was evaluated by the measurement
of bone formation markers (osteocalcin and bone alkaline phosphatase) and bone
resorption markers (C-terminal cross-linking telopeptide of collagen type I).
Infection with hepatitis B virus, verification of FVIII inhibitors and number of target
joint were used for assessment of risk factors.
Out of 58 patients with hemophilia 48% had normal bone mineral density, 48%
osteopenia and 9% osteoporosis. The severity of osteoporosis on femoral neck
correlated with severity of hemophilia. No correlation was found between bone
mineral density and number of target joints, infection with hepatitis C or presence of
FVIII inhibitors. When assessed with quantitative ultrasound of the heel, patients
with hemophilia has significantly lower levels of QUS parameters when compared to
healthy controls (p<0,000). The QUS values significantly correlated with severity of
hemophilia and number of target joints, but no correlation was found in comparison
with presence of FVIII inhibitors or infection of hepatitis C virus.
Our results showed that patients with hemophilia have high risk of developing
osteoporosis and osteopenia, which is dependent on severity of hemophilia, but not
on presence of FVIII inhibitors or hepatitis C infection. Quantitative ultrasound of
the heel, after modification of T- cut off values, showed high sensitivity and
specificity for detection of reduced bone mineral density in hemophilia patients. |
