Markisia Karagiorga

Cardiac status in well-treated patients with thalassemia major.

Abstract:  Objective: To assess cardiac status in a large group of patients with thalassemia major who had been treated in a standard way since their early infancy with intensive transfusions and deferoxamine chelation therapy and who had good compliance with this regimen. Methods and Results: We assessed clinically and echocardiographically 202 thalassemia major patients aged 27.3 ± 6.3 yr and 75 age and sex‐matched healthy controls. Overt cardiac disease was encountered in 14 patients (6.9%), including 5 (2.5%) with congestive heart failure, aged 26–37 yr, and 9 with systolic left ventricular (LV) dysfunction, aged 23–37 yr. Ten patients (5.0%) had a history of pericarditis. Left atrial and LV diameters, LV mass and cardiac output were significantly higher in patients than in controls, while peripheral resistance and LV afterload were significantly lower. Relative LV wall thickness did not differ between patients and controls, but it was significantly lower in patients with overt cardiac disease compared to those without (P < 0.05). Restrictive LV filling was observed in 37.6% of patients and was significantly more frequent in cases with overt cardiac disease (P < 0.01). Pulmonary hypertension was practically absent. Hematological parameters and pulmonary artery pressure levels were not independently associated with the presence of overt cardiac disease. Conclusion: Strict lifelong adherence to the standard transfusion and deferoxamine therapy reduces considerably the occurrence of heart failure, LV dysfunction and pericarditis, prevents early heart failure and pulmonary hypertension, but does not eliminate completely cardiac disease in patients with thalassemia major.

A comparison of magnetic resonance imaging and cardiac biopsy in the evaluation of heart iron overload in patients with β‐thalassemia major

Abstract:  Objectives: To apply magnetic resonance imaging (MRI) for the assessment of myocardial iron deposition in patients with β‐thalassemia and compare the results with cardiac biopsy data. Background: Myocardial iron accumulation is the main cause for cardiac complications in β‐thalassemia. Methods: Twenty‐five consecutive thalassemic patients were studied using a 0.5‐T (Tesla) system, ECG‐gated, with echo time (TE) = 17–68 ms. T2 relaxation time of the interventricular septum was calculated assuming simple monoexponential decay. A heart T2 relaxation time value of 32 ms was used for the discrimination between high and low iron deposition. Heart biopsy was performed within a week after the MRI study. Patients with stainable iron in more than 50% of the myofibrils were graded as having severe iron deposition. A serum ferritin level below 2000 ng/mL was considered as an indication of successful chelation. Results: Seven of the 25 patients had heart biopsy indicative of low iron deposition (Group L) and the remaining 18 patients had heart biopsy indicative of high iron deposition (Group H). T2 relaxation time of the heart (T2H) was lower in Group H compared to Group L (31.5 ± 3.9 (range: 28–40) ms vs. 35.7 ± 3.7 (range: 29–40) ms, P = 0.026). The T2H was in agreement with heart biopsy in 86% of the patients in Group L and in 78% of the patients in Group H (overall agreement 80%). Similarly, serum ferritin levels were in agreement with heart biopsy in 28% and 88%, respectively (overall agreement 72%). In Group L, MRI was in better agreement with biopsy compared to serum ferritin (86% vs. 28%, P < 0.05). A receiver operating characteristic curve (ROC) analysis confirmed that a T2 relaxation time of 32 ms had the highest discriminating ability for the corresponding biopsy outcome. Conclusions: Heart T2 relaxation time appears in agreement with cardiac biopsy, both in high and low iron deposition, and may become a useful non‐invasive index in β‐thalassemia.

Pregnancy in patients with well-treated β-thalassemia: Outcome for mothers and newborn infants

OBJECTIVE Our purpose was to investigate the course and outcome of pregnancy in women with well-treated beta-thalassemia. STUDY DESIGN Twenty-two pregnancies, including one twin pregnancy, in 19 women were studied. Pregnancy was advised when patients had received a prolonged intensive treatment with hypertransfusions and iron chelation and had echocardiographically normal resting left ventricular performance. All conceptions were spontaneous. Cardiac function, along with hematologic, endocrinologic, and hepatic parameters were initially assessed and monitored throughout pregnancy and for 2 to 9 years post partum. Babies were delivered by elective cesarean section. RESULTS Twenty-one healthy newborn infants were delivered. A spontaneous abortion and a case of exomphalos also occurred. Gestation, delivery, and recovery were surprisingly uneventful, and no significant cardiac complications were encountered. CONCLUSION Pregnancy can be safe for mothers and babies, provided that women with thalassemia have been started early on intensive treatment and have a normal resting cardiac performance.

Plasma B-type natriuretic peptide concentration in β-thalassaemia patients

Plasma B‐type natriuretic peptide (BNP) concentration has significant diagnostic accuracy and prognostic value in various forms of heart disease. Whether BNP is also useful in the evaluation and management of thalassaemia heart disease remains to be determined.

Hand-assisted Laparoscopic Surgery with a Pfannenstiel Incision in β-Thalassemia Patients: Initial Experience

Introductionβ-Thalassemia patients have splenomegaly significant enough to require splenectomy; furthermore, these patients also often require concurrent procedures.MethodsBetween January and October 2005, seven patients with β-thalassemia underwent hand-assisted laparoscopic splenectomy with cholecystectomy, appendectomy, and liver biopsy with the hand-port device introduced through a Pfannenstiel incision.ResultsThe median age of the patients was 28 years, and the median spleen length was 23 cm. The median operating time was 210 minutes; there were no conversions to an open procedure; and the median spleen weight was 1072 g. One major postoperative complication occurred. The median hospital stay was 6 days.ConclusionsThe proposed hand-assisted laparoscopic approach is safe and feasible. It provides a minimally invasive alternative that may become the treatment of choice in β-thalassemia patients who require concurrent operations.

Incidence, Risk Factors, and Outcome of Portal Vein Thrombosis After Laparoscopic-Assisted Splenectomy in β-Thalassemia Patients: A Prospective Exploratory Study

BACKGROUND Portal vein system thrombosis (PVT) is an infrequent but potentially serious complication after laparoscopic splenectomy. Patients with β-thalassemia are at higher risk as they have splenomegaly and hypercoagulability. SUBJECTS AND METHODS Forty-eight β-thalassemia patients who underwent hand-assisted laparoscopic splenectomy or laparoscopic splenectomy were studied prospectively with pre- and postoperative Doppler ultrasonography or computed tomography scanning. RESULTS The incidence of PVT was 8.3% (95% confidence interval [CI] 0.2%-16.4%) (4 of 48 patients). Spleen weight was the only independent factor associated with the presence of PVT. The odds ratio for spleen weight (100 g increase) was 1.46 (95% CI 1.10-1.94, P=.010). Receiver operator characteristic curve analysis showed that the optimal cutoff of spleen weight to the prediction of PVT was 1543 g. Thrombosis resolution was observed after a median of 165 days. CONCLUSIONS Patients with β-thalassemia who undergo laparoscopic-assisted splenectomy are at high risk of postoperative PVT. Close postoperative surveillance and aggressive coagulation prophylaxis are needed in these patients. Larger studies are required to confirm the present findings.

Bone health evaluation of children and adolescents with homozygous β-thalassemia: implications for practice.

Objective: Bone tissue is adversely affected in patients with homozygous &bgr;-thalassemia. The aim of this study was to find warning signs of bone loss in young patients with &bgr;-thalassemia and allow prompt therapeutic interventions. Methods: Thirty-eight patients were studied, 20 boys and 18 girls, aged 5 to 18 years (median=14.13 y), on regular transfusions and chelation treatments. Their bone mineral density (BMD) was measured with dual x-ray absorptiometry. The recorded parameters were weight, height, bone age (BA), transfusion adequacy (mean fetal hemoglobin value), and chelation efficacy (mean ferritin value, compliance). Tanner stage was also evaluated: 8 prepubertal subjects (stage 1), 18 peripubertal subjects (stages 2 and 3), and 12 postpubertal patients (stages 4 and 5). Blood and urine samples were collected for biochemical analysis. Results: Mean BMD z score was −1.56±1.25. Thirteen patients had normal BMD (z score >−1), 17 patients had low BMD (z score: −1 up to −2.4), and 8 patients had very low BMD (z score <−2.5). Low BMD was observed in patients older than 12 years and was associated with short stature (r=0.33, P=0.04), delayed BA (r=0.61, P=0.01), and increased bone formation markers. There was no correlation of BMD z score with sex, fetal hemoglobin value, ferritin, and compliance. Regarding Tanner stage, it was associated strongly with short stature (r=0.57, P=0.01), ferritin (r=−0.38, P=0.02), and compliance (r=0.58, P=0.01). Conlusions: The decline in BMD may start early, even in the well-transfused patients. This study targets the young patients who are mostly at the risk for bone loss, that is short adolescents with delayed BA. Their prompt recognition in everyday practice is important, as they will need close monitoring of their BMD and metabolic bone profile. In addition, therapeutic interventions, such as adequate calcium intake and sunlight exposure, weight-bearing exercise and, in cases of vitamin D insufficiency, proper supplementation could be suggested.