Osteoporosis has been recently recognized as a severe comorbidity factor in
hemophilia. However, its pathogenesis is still obscure. We evaluated the incidence of
osteoporosis in 90
hemophilia patients and investigated possible correlations with clinical and laboratory data. Out of the 90 patients, 80 (89%) had severe
hemophilia, and 35 (38.9%) were human immunodeficiency virus (HIV)-positive. Hemophilic arthropahty was assessed using World Federation of
Hemophilia clinical score and Petterson radiological score. Bone mineral density of the lumbar spine (LS) and femoral neck (FN) were measured using dual-energy X-ray absortiometry. Bone turnover was evaluated by the measurement of: (1)
bone resorption markers [N-terminal cross-linking telopeptide of
collagen type I (NTX), C-terminal cross-linking telopeptide of
collagen type I (CTX), and
tartrate-resistant acid phosphatase isoform-5b (
TRACP-5b)], (2) bone formation markers [bone-
alkaline phosphatase (bALP) and
osteocalcin], and (3) osteoclast stimulators (
receptor activator of nuclear factor-kappaB ligand,
osteoprotegerin, and
tumor necrosis factor-alpha).
Osteopenia or
osteoporosis was observed in 86% and 65% of the patients in FN and LS, respectively.
Osteoporosis was more common among HIV-positive patients in both FN (65.3% vs 41.6%; p = 0.007) and LS (17.86% vs 5.41%, p = 0.004). The severity of
osteoporosis in FN correlated with the patients' total clinical and radiological score (p = 0.001).
Hemophilia patients showed increased osteoclastic activity (significant increase of
TRACP-5b, NTX, and CTX), which was not accompanied by a comparable increased bone formation (reduced
osteocalcin and borderline increase of bALP). In multivariate analysis,
HIV infection (p = 0.05) and total clinical score (p = 0.001) were independent risk factors for
osteoporosis development. We conclude that there is a high prevalence of
osteoporosis among hemophiliacs, which is related to the severity of
arthropathy and is enhanced by
HIV infection. We report for the first time a high
bone resorption that seems not to be balanced by a comparable bone formation.