Fractures and Epiphyseal Deformities in Beta-Thalassemia

Exarchou, E; Politou, C; Vretou, E; Pasparakis, D.; Madessis, G; Caramerou, A

doi:10.1097/00003086-198410000-00024

Cited by 42 publications

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“…Fractures were highly prevalent (up to 50%), multiple and frequently healed with resultant deformity in patients with ␤-thalassemia major prior to the introduction of effective transfusion and chelation therapy (44,63,64). In a study of 62 patients between 10 and 32 years: one in three had sustained fractures and one in five had multiple or recurrent fractures (63).…”

Section: B Fracturesmentioning

confidence: 99%

“…In a study of 62 patients between 10 and 32 years: one in three had sustained fractures and one in five had multiple or recurrent fractures (63). Moreover, deformities were often caused by the premature fusion of the epiphyses of the long bones in patients and occurred at sites involving the lower tibia and fibula, upper humeral, and lower femoral epiphyses (63).…”

Section: B Fracturesmentioning

confidence: 99%

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Bone Disease in Thalassemia: A Molecular and Clinical Overview

et al. 2016

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Thalassemia bone disease is a common and severe complication of thalassemia-an inherited blood disorder due to mutations in the α or β hemoglobin gene. In its more severe form, severe anemia is present, and treatment with frequent red blood cell transfusion is necessary. Because the body has limited capacity to excrete iron, concomitant iron chelation is required to prevent the complications of iron overload. The effects of chronic anemia and iron overload can lead to multiple end-organ complications such as cardiomyopathy, increased risks of blood-borne diseases, and liver, pituitary, and bone disease. However, our understanding of thalassemia bone disease is incomplete and is composed of a complex piecemeal of risk factors that include genetic factors, hormonal deficiency, marrow expansion, skeletal dysmorphism, iron toxicity, chelators, and increased bone turnover. The high prevalence of bone disease in transfusion-dependent thalassemia is seen in both younger and older patients as life expectancy continues to improve. Indeed, hypogonadism and GH deficiency contribute to a failure to achieve peak bone mass in this group. The contribution of kidney dysfunction to bone disease in thalassemia is a new and significant complication. This coincides with studies confirming an increase in kidney stones and associated accelerated bone loss in the thalassemia cohort. However, multiple factors are also associated with reduced bone mineral density and include marrow expansion, iron toxicity, iron chelators, increased bone turnover, GH deficiency, and hypogonadism. Thalassemia bone disease is a composite of not only multiple hormonal deficiencies but also multiorgan diseases. This review will address the molecular mechanisms and clinical risk factors associated with thalassemia bone disease and the clinical implications for monitoring and treating this disorder.

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Section: B Fracturesmentioning

confidence: 99%

Section: B Fracturesmentioning

confidence: 99%

Bone Disease in Thalassemia: A Molecular and Clinical Overview

et al. 2016

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“…However, aging leads to the development of additional clinical problems in these patients, such as osteopenia and osteoporosis, which are frequently the cause of pathologic fractures and limb deformities [1,2]. So far, little information is available concerning the prevalence of bone mass alterations and the factors responsible for the development of osteopenia and osteoporosis in beta-thalassemia [3,4].…”

Section: Introductionmentioning

confidence: 99%

Effects of Hormonal Replacement Therapy on Bone Metabolism in Young Adults with Beta-thalassemia Major

Lasco

Morabito

Gaudio

et al. 2001

Osteoporosis International

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The aim of our cross-sectional study was to evaluate the effects of hormonal replacement therapy (HRT) on a population of young thalassemics in order to understand better the role of hypogonadism in the balance of bone metabolism. Markers of bone turnover and bone mineral density (BMD) were measured in 40 young patients (mean age 19.8 +/- 4.5 years) with beta-thalassemia major: 20 subjects were biochemically eugonadal. since they were undergoing HRT (group A, treated patients), and 20 were hypogonadic, having suspended HRT (group B, untreated patients). We also examined 20 healthy control subjects (group C) matched for age, anthropometric features and sex to the study groups. Our study shows that young thalassemic patients exhibit a significant loss of cortical and trabecular bone [aBMD L2-L4: 0.886 +/- 0.052 g/cm2 (group A), 0.726 +/- 0.040 g/cm2 (group B), 1.083 +/- 0.090 g/cm (group C); aBMD femoral neck: 0.890 +/- 0.071 g/cm2 (group A), 0.700 +/- 0.065 g/cm2 (group B), 0.934 +/- 0.076 g/ cm2 (group C)]. Osteoporosis is only observed at the lumbar level in treated thalassemic patients, while in untreated patients it involves the femoral neck also. Bone turnover in thalassemic patients is higher in the resorptive phase, than in the neoformation phase and this is more marked in hypogonadic untreated patients. In conclusion, our data demonstrate the important role played by hypogonadism in the development and deterioration of osteopenia/osteoporosis in thalassemia major. Consequently, sex hormone replacement therapy represents an appropriate tool in the prevention and treatment of osteoporosis in thalassemics, probably together with bisphosphonates in cases with severely increased bone resorption.

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“…As both skeletons were adult and were otherwise normal, neuromuscular (e.g., arthrogryposis), metabolic (e.g., renal osteodystophy, hypothyroidism), neoplastic, and genetic causes, particularly thalassemia or those involving mucopolysaccharide biosynthesis, are rejected. HVD is common in homozygous thalassemia, varying in prevalence from 14% (Curriano and Erlandson, 1964) to approximately 50% (Exarchou et al, 1984;Lawson et al, 1983;Ogden et al, 1976), with bilateral expression predominating (Ogden et al, 1976). The least severe of the mucopolysaccharidoses (i.e., MPS 1-5 or Scheie syndrome) develops late and does not involve significant skeletal changes or reduced longevity (Rubin and Farber, 1994).…”

Section: Discussionmentioning

confidence: 99%

Humerus varus deformity in Roman period burials from Kellis 2, Dakhleh, Egypt

Molto¹

2000

Am. J. Phys. Anthropol.

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Humerus varus deformity (HVD) occurs unilaterally in a female (#85) skeleton and bilaterally in a male (#124) from Kellis 2, a Roman period cemetery (circa 300-450 AD) from Dakhleh, Egypt. The affected humeri were shortened, their glenohumeral joints deformed, and their upper diaphyses were angulated. The skeletons were otherwise normal. The severity of the changes suggests that the underlying growth disturbances occurred early in postnatal development. The differential diagnosis considers the mucopolysaccharidoses, thalassemia, infection, and birth trauma, with the latter being favored. Clinical data show limited morbidity or functional impairment in individuals with HVD, although radiographic analysis suggests that #85 may have favored her dominant arm. Ortner and Putschar (1981), and Hershkovitz et al (1991) describe the only other archaeological cases of HVD. These authors provide useful, though limited, information on the differential diagnosis of HVD in archaeological specimens. Future research should focus on documenting the prevalence and expressivity of HVD in Mediterranean population samples where thalassemia evolved. HVD is relatively common in thalassemics and this approach would be valuable for documenting the range of osseous responses characteristic of HVD.

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Fractures and Epiphyseal Deformities in Beta-Thalassemia

Cited by 42 publications

References 0 publications

Bone Disease in Thalassemia: A Molecular and Clinical Overview

Bone Disease in Thalassemia: A Molecular and Clinical Overview

Effects of Hormonal Replacement Therapy on Bone Metabolism in Young Adults with Beta-thalassemia Major

Humerus varus deformity in Roman period burials from Kellis 2, Dakhleh, Egypt

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