Title:The Quality of Life of Thalassemic Patients: The Role of Endocrine Defect
Compensation
Volume: 21
Issue: 12
Author(s): Lorenza Mattia, Irene Samperi, Salvatore Monti, Vincenzo Toscano, Giuseppe Pugliese and Maurizio Poggi*
Affiliation:
- Endocrine-Metabolic Unit, Sant'Andrea University Hospital, Rome,Italy
Keywords:
Thalassemia major, quality of life, endocrine disease, psychological assessment, well-being.
Abstract: Background: The improvement of beta thalassaemia treatments has led to an increase in
life expectancy. This implies the emergence of new comorbidities. Amongst others, endocrine
glands are extremely sensitive to iron overload.
Objective: We aimed to understand the impact of the endocrine conditions on the patient’s quality
of life (QOL).
Results: Hypogonadism may present with lack or delay of pubertal development, sexual dysfunctions
and impaired fertility, which impact QOL in both sexes. Early recognition and treatment, as
well as choosing the most appropriate therapy, according to patient’s needs (fertility, pubertal development,
psychological concerns, comorbidities), are advisable.
Osteoporosis affects QOL irrespective of symptoms. Growth hormone deficiency may occur both
in childhood and in adulthood, and it affects different aspects of QOL. In adults, it could be difficult
to examine if the symptoms are due to GHD, and a trial of GH replacement could be useful to
identify benefits and needs.
Glucose metabolism impairment is common in thalassaemic patients and early recognition is
mandatory because long-term complications can have a detrimental impact on QOL (as blindness
or dialysis).
Although the incidence of adrenal insufficiency seems to be rare in thalassaemic patients, when it
occurs, it has a severe impact on QOL.
Conclusion: Limited data is available on QOL in thalassaemic patients, and is even less related to
endocrinopathies. We can speculate that endocrinopathies have an impact on everyday life. More
studies are needed to allow our patients to achieve not just a longer life but also a better quality of
life.
