Towards an optimization of the management of endocrine complications of thalassemia

Abstract

Children with thalassemia are living longer due to better care. Physicians dealing with this group of patients now have to contend with new challenges resulting from iron overload. Endocrine complications represent the most common morbidities encountered. To provide a better quality of life, these complications have to be addressed in a consistent way. For this purpose, we have compiled a set of recommendations to help physicians provide the best care possible to these patients.

Risk factors for endocrine complications in transfusion-dependent thalassemia patients on chelation therapy with deferasirox: a risk assessment study from a multi-center nation-wide cohort

“…While MRI imaging of endocrine glands is promising in detecting preclinical disease, it has not reached the level of validation required for routine clinical use. 6 …”

“…While MRI imaging of endocrine glands offers promise in detecting preclinical disease, it has not reached the level of validation required for routine clinical use . 6 The once-daily oral iron chelator deferasirox was shown to be effective in chelating iron from the heart and the liver, with preservation of the heart function, [7][8][9] and with reversal of the hepatic fibrosis. 10 While the effective control of heart and liver siderosis remains the primary goal in the management of TDT patients, observational data suggest that iron loading in endocrine organs may precede myocardial involvement and there is now substantial evidence on the role of iron overload in endocrine morbidity.…”

Endocrinopatie e anemie / anemie ed endocrinopatie: una si(pali)ndrome spesso misconosciuta

“…Il quadro dell'iposurrenalismo è spesso asintomatico, la diagnosi va posta con test all'ACTH in pazienti astenici con decremento ponderale, sintomi peraltro comuni nella talassemia. La combinazione di deficit primitivi e secondari in questi pazienti può rendere difficile la diagnosi in alcune forme e la instaurazione di adeguata terapia sostitutiva [12].…”

Guideline for the Management of Conception and Pregnancy in Thalassaemia Syndromes: A British Society for Haematology Guideline

“…Resultant complications include diabetes, hypogonadotropic hypogonadism, hypothyroidism, hypoparathyroidism and more rarely growth hormone and adrenal insufficiency. [13][14][15] Approximately 40% of young adults with thalassaemia are hypogonadal, and over 50% have more than one endocrinopathy. [16][17][18] Hypogonadotropic hypogonadism occurs because of pituitary iron overload and is the most common endocrinopathy.…”

“…The liver is the primary site of iron storage, but once sufficient iron overload occurs, iron can be deposited in the endocrine organs and the heart. Resultant complications include diabetes, hypogonadotropic hypogonadism, hypothyroidism, hypoparathyroidism and more rarely growth hormone and adrenal insufficiency 13–15 . Approximately 40% of young adults with thalassaemia are hypogonadal, and over 50% have more than one endocrinopathy 16–18 .…”