Contributions
Abstract: PB2501
Type: Publication Only
Background
Endocrine abnormalities are common in thalassemia patients, despite the initiation of an early adapted chelation treatment, the main complications that can occur, hypothyroidism, diabetes, growth retardation, hypogonadism, hypoparathyroidism, adrenal insufficiency.
Aims
Clinical, biological and evolutionary evaluation of the main endocrine complications of polytransfused homozygous β-thalassemia patients over a period of 18 years.
Methods
This is a retrospective study over 18 years [January 1999 - December 2016], we collected 35 homozygous thalassemic β : major form (MF) = 17 cases, intermediate form (IF) = 18 cases.
The search for endocrine complications is done on a regular basis: clinical examination, biological assessment, hormonal assessment, radiological assessment. Then the patient will be referred to the endocrinologist for proper treatment.
Results
The average age of diagnosis of β thalassemia in major form was 11 months [6 to 46 months], in the Intermediate form was 28 months [6 to 78 months]. The current median age was 17 years [30 months to 47 years], with a sex-ratio = 1.05 (18 males/17 females).
Endocrine complications are found in 40% of cases (MF = 10, IF = 4): (hypothyroidism n = 5, hypogonadism n = 5, diabetes n = 4), these various complications are detailed below :
Hypothyroidism: it is infra-clinical in 5 cases (MF = 3, IF = 2), the average age of discovery is 24 years [13 to 33 years], the thyroid balance: average TSH of 5.73 mIU / ml [4.96 to 6.61], average FT4 of 81 μg /l [77 to 88], these patients are monitored regularly and there is a stabilization of thyroid status.
Hypogonadism: n = 5 (MF = 4, IF = 1), the average age is 26 years [17 to 32 years], primary amenorrhea is noted in 3 cases, the hormone balance found: GH average of 1.38μUI / ml [0.88 to 1.86], average FSH of 0.26 IU / l [0.18 to 0.68], average oestradiol of 53 ng / l [33 to 72], 2 patients are treated by patch estrogen with a good evolution in a patient after 12 months of hormonal treatment.
Diabetes : n = 4 (FM = 3, FI = 1), average age of 32 years [22 to 47 years], average Hb A1c of 8.1% [7.5 to 8.9], these patients are on a low-carbohydrate diet combined with insulin therapy with regular monitoring in diabetology.
Note that all our patients are under a deferasirox chelator treatment at the dosage of 20 to 30 mg / kg / day with regular monitoring of ferritin levels. The median follow-up of our patients is 16 years [13 to 47 years].
Conclusion
Endocrine complications during β-thalassemia are manifestations mainly associated with haemochromatosis resulting from direct involvement of the glandular parenchyma or the hypothalamic-pituitary axis.
The frequency of these complications increases with age of patients, they are the most common complications, noted in 40% of cases.
When complications are established, management should focus on interrupting the evolutionary process and treating symptoms.
It is for this reason that the realization of an early detection in endocrine environment is essential in order to diagnose the beginning endocrinous attacks (intolerance to sugar, rough hypothyroidism) and to intensify the chelating treatment
Session topic: 28. Thalassemias
Keyword(s): Hemochromatosis, Thalassemia
Abstract: PB2501
Type: Publication Only
Background
Endocrine abnormalities are common in thalassemia patients, despite the initiation of an early adapted chelation treatment, the main complications that can occur, hypothyroidism, diabetes, growth retardation, hypogonadism, hypoparathyroidism, adrenal insufficiency.
Aims
Clinical, biological and evolutionary evaluation of the main endocrine complications of polytransfused homozygous β-thalassemia patients over a period of 18 years.
Methods
This is a retrospective study over 18 years [January 1999 - December 2016], we collected 35 homozygous thalassemic β : major form (MF) = 17 cases, intermediate form (IF) = 18 cases.
The search for endocrine complications is done on a regular basis: clinical examination, biological assessment, hormonal assessment, radiological assessment. Then the patient will be referred to the endocrinologist for proper treatment.
Results
The average age of diagnosis of β thalassemia in major form was 11 months [6 to 46 months], in the Intermediate form was 28 months [6 to 78 months]. The current median age was 17 years [30 months to 47 years], with a sex-ratio = 1.05 (18 males/17 females).
Endocrine complications are found in 40% of cases (MF = 10, IF = 4): (hypothyroidism n = 5, hypogonadism n = 5, diabetes n = 4), these various complications are detailed below :
Hypothyroidism: it is infra-clinical in 5 cases (MF = 3, IF = 2), the average age of discovery is 24 years [13 to 33 years], the thyroid balance: average TSH of 5.73 mIU / ml [4.96 to 6.61], average FT4 of 81 μg /l [77 to 88], these patients are monitored regularly and there is a stabilization of thyroid status.
Hypogonadism: n = 5 (MF = 4, IF = 1), the average age is 26 years [17 to 32 years], primary amenorrhea is noted in 3 cases, the hormone balance found: GH average of 1.38μUI / ml [0.88 to 1.86], average FSH of 0.26 IU / l [0.18 to 0.68], average oestradiol of 53 ng / l [33 to 72], 2 patients are treated by patch estrogen with a good evolution in a patient after 12 months of hormonal treatment.
Diabetes : n = 4 (FM = 3, FI = 1), average age of 32 years [22 to 47 years], average Hb A1c of 8.1% [7.5 to 8.9], these patients are on a low-carbohydrate diet combined with insulin therapy with regular monitoring in diabetology.
Note that all our patients are under a deferasirox chelator treatment at the dosage of 20 to 30 mg / kg / day with regular monitoring of ferritin levels. The median follow-up of our patients is 16 years [13 to 47 years].
Conclusion
Endocrine complications during β-thalassemia are manifestations mainly associated with haemochromatosis resulting from direct involvement of the glandular parenchyma or the hypothalamic-pituitary axis.
The frequency of these complications increases with age of patients, they are the most common complications, noted in 40% of cases.
When complications are established, management should focus on interrupting the evolutionary process and treating symptoms.
It is for this reason that the realization of an early detection in endocrine environment is essential in order to diagnose the beginning endocrinous attacks (intolerance to sugar, rough hypothyroidism) and to intensify the chelating treatment
Session topic: 28. Thalassemias
Keyword(s): Hemochromatosis, Thalassemia