Background: Thalassemia Major (TM) is a complex pathology that needs a highly skilled approach. Endocrine comorbidities are nowadays the most important complications, including hypogonadism, hypothyroidism, diabetes mellitus, and bone diseases. Recent works stated that there could be a relevant prevalence of adrenal insufficiency (AI) present in TM, and this fact may become crucial, especially in case of major stressful events. Aim: Test the reliability of the standard test to diagnose AI in a group of TM and correlate it with clinical, hematological, and radiological data. Methods: We evaluated endocrine damages and the efficacy of iron chelation therapy in 102 patients affected by TM. AI was assessed by tetracosactide (Synacthen) 1 mcg iv (low-dose test, LDT) stimulation test. Patients with a subnormal response (peak cortisol < 500 nmol/L) were followed up to 5 years to check the symptoms and signs of AI. Results: We found AI in 13.7% of the population studied. We did not find any correlation between AI and all data evaluated. Only female gender seems to be a protective factor. A follow up of the patients affected by AI showed no signs of adrenal crisis, in spite of no replacement therapy. Conclusions: Our study shows a relevant prevalence of AI in TM, especially in males. The absence of an adrenal crisis, in spite of no replacement therapy, during the long-term follow up, seems to underline that current methods to evaluate AI, in TM, should consider a different and specific diagnostic test or different cut off for diagnosis.

New Insights and methods in the approach to Thalassemia Major. The lesson From the case of adrenal insufficiency / Poggi, M.; Samperi, I.; Mattia, L.; Di Rocco, A.; Iorio, C.; Monti, S.; Pugliese, G.; Toscano, V.. - In: FRONTIERS IN MOLECULAR BIOSCIENCES. - ISSN 2296-889X. - 6:(2020), pp. 1-6. [10.3389/fmolb.2019.00162]

New Insights and methods in the approach to Thalassemia Major. The lesson From the case of adrenal insufficiency

Samperi I.;Mattia L.;Di Rocco A.;Iorio C.;Monti S.;Pugliese G.
Penultimo
;
Toscano V.
Ultimo
2020

Abstract

Background: Thalassemia Major (TM) is a complex pathology that needs a highly skilled approach. Endocrine comorbidities are nowadays the most important complications, including hypogonadism, hypothyroidism, diabetes mellitus, and bone diseases. Recent works stated that there could be a relevant prevalence of adrenal insufficiency (AI) present in TM, and this fact may become crucial, especially in case of major stressful events. Aim: Test the reliability of the standard test to diagnose AI in a group of TM and correlate it with clinical, hematological, and radiological data. Methods: We evaluated endocrine damages and the efficacy of iron chelation therapy in 102 patients affected by TM. AI was assessed by tetracosactide (Synacthen) 1 mcg iv (low-dose test, LDT) stimulation test. Patients with a subnormal response (peak cortisol < 500 nmol/L) were followed up to 5 years to check the symptoms and signs of AI. Results: We found AI in 13.7% of the population studied. We did not find any correlation between AI and all data evaluated. Only female gender seems to be a protective factor. A follow up of the patients affected by AI showed no signs of adrenal crisis, in spite of no replacement therapy. Conclusions: Our study shows a relevant prevalence of AI in TM, especially in males. The absence of an adrenal crisis, in spite of no replacement therapy, during the long-term follow up, seems to underline that current methods to evaluate AI, in TM, should consider a different and specific diagnostic test or different cut off for diagnosis.
adrenal insufficiency; cortisol peak; endocrine comorbidities; synachten; thalassemia major
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New Insights and methods in the approach to Thalassemia Major. The lesson From the case of adrenal insufficiency / Poggi, M.; Samperi, I.; Mattia, L.; Di Rocco, A.; Iorio, C.; Monti, S.; Pugliese, G.; Toscano, V.. - In: FRONTIERS IN MOLECULAR BIOSCIENCES. - ISSN 2296-889X. - 6:(2020), pp. 1-6. [10.3389/fmolb.2019.00162]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1414326
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