MULTICENTER STUDY ON PREVALENCE OF ENDOCRINE COMPLICATIONS IN THALASSEMIA MAJOR - ITALIAN WORKING GROUP ON ENDOCRINE COMPLICATIONS IN NON-ENDOCRINE DISEASES

OBJECTIVE Thalassaemia major is a common and serious medical problem, worldwide. However, there are few data concerning the various endocrin e disorders which occur in this condition. We have surveyed 25 Italian centres in order to establish the prevalences and times of onset of e ndocrine disorders in patients with beta-thalasaemia major. PROJECT AN D PATIENTS A questionnaire specifically designed to investigate the pr evalences of endocrinopathies was sent to 25 paediatric and haematolog y departments. The following data were recorded in the questionnaire: sex, age, height and weight, pubertal status according to Tanner's cla ssification, history of secondary amenorrhoea, type of endocrinopathy and hormone levels at diagnosis, associated complications, serum ferri tin level, liver enzymes (ALT) and compliance with treatment. RESULTS An analysis of data from 1861 patients showed that failure of puberty was the major clinical endocrine problem and was present in 51% of boy s and 47% of girls, all over the age of 15 years. Secondary amenorrhoe a was recorded in 23% of patients (mean age 18.3 years), primary hypot hyroidism in 6.2% (mean age 15.8 years), insulin dependent diabetes me llitus in 4.9% (mean age 18.1 years) and hypoparathyroidism in 3.6% of the patients (mean age 18.7 years). At present, the majority are in t he second or third decades of life. The prevalences of hypothyroidism, insulin dependent diabetes mellitus and hypoparathyroidism differed i n the various centres, whereas the frequency of pubertal disorders was very similar. CONCLUSIONS Our study has demonstrated several points. Endocrine evaluation in thalassaemic patients must be carried out regu larly, especially in those patients over the age of 10 years with iron overload and poor compliance with chelation therapy. The prevalences of some complications, such as insulin dependent diabetes and hypothyr oidism, were lower than previously recorded. Hence, it is to be hoped endocrine complications will be less common in the future, for patient s who have started chelation therapy during the first years of life. B ecause of the improved survival of thalassaemic patients with insulin dependent diabetes, and the high incidence of multiple endocrine compl ications, it is important to carry out careful follow-up studies for t he early detection of any other associated complications to facilitate correct treatment.