Platyspondyly in treated beta-thalassemia.

Flattening of the vertebral bodies with a platyspondyly appearance is described in 14 patients selected for evaluation of short stature from 106 patients affected by thalassemia major, who received an intensive transfusion regimen combined with continuous chelation therapy. The vertebral body height/width ratio was decreased at the level of all the investigated tracts, namely, cervical and/or dorsal and/or lumbar. The flattening of the vertebral bodies may be due to suppression of intramedullary hematopoiesis by a high transfusion regimen. The reduced intravertebral pressure due to disturbed hemopoiesis could cause weight-bearing and other biological stresses to provoke a reduction in vertebral body height.

[The evolutionary effects of therapy on the skeletal lesions in beta-thalassemia]. / Effetti dell'evoluzione della terapia sulle lesioni scheletriche nella beta-talassemia.

Up to the mid-1960s, beta-thalassemia was treated with blood transfusions as frequent as needed to keep symptoms under control and to prevent transfusional hemosiderosis. In the following years, high transfusion regimens and iron chelation therapy with desferrioxamine were used. Because of these different treatment modalities, skeletal findings in thalassemia have markedly changed. In the past, thalassemic patients treated with a low transfusion regimen and without chelation therapy developed osteopenia--with widened medullary spaces, cortical thinning and trabecular atrophy--secondary to chronic expansion of red marrow, due to increased erythropoietin response to chronic anemic hypoxia. Typical radiographic patterns in the skull included widened diploic space, atrophic-especially outer--tables and, in some patients, the "hair-on-end" pattern. As for the face, obliteration of the paranasal sinuses and the typical "rodent facies" were observed. In the ribs, bulbous expansion of the posterior and anterior segments and the "rib within a rib" patterns were observed. As for the spine, coarse trabecular arrangement was seen. The "cobweb" pattern was seen in the pelvis and finally the lack of the normal concave outline was observed in the long bones. In the patients treated with high transfusion regimens and iron chelation therapy over the last 30 years, both skull anomalies and disfigurement are less frequent. The skull is almost normal, with the exception of osteopenia and thickened diploic space in the frontal bone only; the paranasal sinuses are usually not obliterated. The hands and rib are normal, just like long bones, pelvis, scapulae and vertebral bodies. Nevertheless, in some adequately treated patients new skeletal features have been recently observed in the long bones, which are similar to those occurring in rickets and/or scurvy, and in the vertebral bodies, resembling platyspondylia. These abnormal features might be caused by several factors--i.e., marrow expansion, transfusion regimens, direct/indirect effects of desferrioxamine, iron load, endocrine abnormalities, deficiency of some minerals and finally dysvitaminoses. Nevertheless, osteopenia remains the main negative factor of thalassemia.

[Platyspondylisis+ in beta-thalassemia major]. / Platispondilia nella beta-talassemia maior.

Platyspondylia was observed in 14 patients affected with thalassemia major (7 males and 7 females, age range: 10-18 years) who received an intensive transfusion regimen combined with continuous chelation therapy (desferrioxamine: 50-80 mg/kg daily). Height/width ratio was decreased at all the investigated tracts--i.e., cervical and/or dorsal and/or lumbar spine. The range of height/width ratio values was 0.41-0.55 at the 5th cervical body, 0.33-0.53 at the 8th dorsal body, 0.43-0.56 at the 12th dorsal body and 0.47-0.62 at the 2nd lumbar body. The flattening of the vertebral bodies seems to be due to the depletion of hematopoetic tissue determined by the high transfusion regimen. The reduced intramedullary pressure is thought to counteract neither weight-bearing nor other biological stresses, which might ultimately provoke the thinning of vertebral bodies.

Growth plate injury of the long bones in treated beta-thalassemia.

In 12 patients affected by thalassemia major who received an intensive transfusion regimen combined with continuous iron chelation therapy (desferrioxamine 50-80 mg/kg daily), radiologic abnormalities of the long bones were observed similar to those observed in rickets and scurvy. These abnormalities were associated with a growth retardation. The pathogenesis of these lesions is uncertain, but probably the toxic effect of desferrioxamine plays an important role in their development. A relative deficiency of vitamins D and/or C cannot be entirely excluded.

[Rickets- and/or scurvy-like bone lesions in beta-thalassemia major]. / Lesioni scheletriche simil-rachitiche e/o scorbutiche nella beta-talassemia major.

Recently, a new type of skeletal lesions has been described in Cooley's anemia as a possible complication secondary to therapy. In 12 children affected with thalassemia major, who received an intensive transfusional regimen combined with continuous iron chelation therapy (desferoxamine-B: 50-80 mg/kg/day), some radiological abnormalities of the long bones were observed similar to those described in rickets and scurvy. These rickets and/or scurvy-like lesions had never been reported before the introduction of high-dose desferoxamine therapy. The pathogenesis of these lesions is uncertain, but the toxic effect of desferoxamine probably plays an important role in their development. The association of growth retardation and rickets and/or scurvy-like skeletal lesions in Cooley's anemia patients may be used as a valuable clinical criterion in long-term chelation management.