High Prevalence of “Biochemical” Adrenal Insufficiency in Thalassemics: Is It a Matter of Different Testings or Decreased Cortisol Binding Globulin?

Poomthavorn, Preamrudee; Isaradisaikul, Boonchoo; Chuansumrit, Ampaiwan; Khlairit, Patcharin; Sriphrapradang, Arporn; Mahachoklertwattana, Pat

doi:10.1210/jc.2010-0205

Cited by 27 publications

(56 citation statements)

References 29 publications

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“…Patients usually demonstrate an intact secretory pattern of cortisol and aldosterone but abnormal circadian patterns of ACTH secretion [92]. Also, thalassaemics with chronic liver disease may have falsely low serum cortisol levels as it is normally bound to cortisol binding globulin (CBG) which is synthesised by hepatocytes [93]. To date CBG level in thalassaemics hasn't been reported, however, a normal level in the presence of low cortisol excludes its role in adrenal insufficiency.…”

mentioning

confidence: 99%

A Review of Endocrine Disorders in Thalassaemia

De¹,

Mistry²,

Wright³

et al. 2014

OJEMD

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Endocrine dysfunction in thalassaemia is amongst the most common complication and is principally attributed to excessive iron overload and suboptimal chelation. The prevalence is quite high particularly in multiethnic populations but determining the prevalence is often difficult due to the widespread heterogeneity of the population and timing of exposure to chelation therapy. Disturbances in growth, pubertal development, abnormal gonadal functions, impaired thyroid, parathyroid and adrenal functions, diabetes and disorderly bone growth are commonly encountered. Early detection and institution of appropriate transfusion regimen and chelation therapy and treatment of complications are the keys to managing this population including regular follow. In this article, we review the literature in relation to the various endocrine complications encountered in thalassaemia.

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confidence: 99%

A Review of Endocrine Disorders in Thalassaemia

De¹,

Mistry²,

Wright³

et al. 2014

OJEMD

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“…Primary myocardial dysfunction can be caused by hypoparathyroidism [168][169][170] and hypothyroidism, 171,172 and these conditions may exacerbate iron cardiomyopathy. Decreased adrenal reserve is also common in TM, [173][174][175][176][177][178] and patients in HF should be treated as though they have adrenal insufficiency until proven otherwise. Hypogonadotrophic hypogonadism is the most common endocrinopathy observed in TM, 1,179 and low sex steroids may exacerbate HF symptoms.…”

Section: Endocrine Metabolic and Infectious Comorbiditiesmentioning

confidence: 99%

Cardiovascular Function and Treatment in β-Thalassemia Major

Pennell¹,

Udelson²,

Arai³

et al. 2013

Circulation

331

172

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This aim of this statement is to report an expert consensus on the diagnosis and treatment of cardiac dysfunction in β-thalassemia major (TM). This consensus statement does not cover other hemoglobinopathies, including thalassemia intermedia and sickle cell anemia, in which a different spectrum of cardiovascular complications is typical. There are considerable uncertainties in this field, with a few randomized controlled trials relating to treatment of chronic myocardial siderosis but none relating to treatment of acute heart failure. The principles of diagnosis and treatment of cardiac iron loading in TM are directly relevant to other iron-overload conditions, including in particular Diamond-Blackfan anemia, sideroblastic anemia, and hereditary hemochromatosis. Heart failure is the most common cause of death in TM and primarily results from cardiac iron accumulation. The diagnosis of ventricular dysfunction in TM patients differs from that in nonanemic patients because of the cardiovascular adaptation to chronic anemia in non–cardiac-loaded TM patients, which includes resting tachycardia, low blood pressure, enlarged end-diastolic volume, high ejection fraction, and high cardiac output. Chronic anemia also leads to background symptomatology such as dyspnea, which can mask the clinical diagnosis of cardiac dysfunction. Central to early identification of cardiac iron overload in TM is the estimation of cardiac iron by cardiac T2* magnetic resonance. Cardiac T2* <10 ms is the most important predictor of development of heart failure. Serum ferritin and liver iron concentration are not adequate surrogates for cardiac iron measurement. Assessment of cardiac function by noninvasive techniques can also be valuable clinically, but serial measurements to establish trends are usually required because interpretation of single absolute values is complicated by the abnormal cardiovascular hemodynamics in TM and measurement imprecision. Acute decompensated heart failure is a medical emergency and requires urgent consultation with a center with expertise in its management. The first principle of management of acute heart failure is control of cardiac toxicity related to free iron by urgent commencement of a continuous, uninterrupted infusion of high-dose intravenous deferoxamine, augmented by oral deferiprone. Considerable care is required to not exacerbate cardiovascular problems from overuse of diuretics or inotropes because of the unusual loading conditions in TM. The current knowledge on the efficacy of removal of cardiac iron by the 3 commercially available iron chelators is summarized for cardiac iron overload without overt cardiac dysfunction. Evidence from well-conducted randomized controlled trials shows superior efficacy of deferiprone versus deferoxamine, the superiority of combined deferiprone with deferoxamine versus deferoxamine alone, and the equivalence of deferasirox versus deferoxamine.

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“…Adrenal glands might also be directly affected by iron toxicity producing primary adrenal insufficiency [9][10][11].…”

Section: Discussionmentioning

confidence: 99%

Multiple Endocrinologic Complications in Thalassemia Major

Wong

Omar

Ismail

2017

Korean J Clin Lab Sci.

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Thalassemia major is a genetic disorder with a defective synthesis of either the alpha or the beta chain of hemoglobin A. Blood transfusion is crucial for the survival in these patients. Unfortunately, endocrine dysfunction is a very common complication in these patients and is principally due to excessive iron overload as a result of frequent blood transfusions. Although regular blood transfusion may increase life expectancy, disturbances in growth and pubertal development, abnormal gonadal functions, impaired thyroid, parathyroid and adrenal functions, diabetes, and disorderly bone growth are common side effects. We hereby present a case of a 23-year-old, unmarried woman with beta thalassemia major presenting with primary amenorrhea, poor development of secondary sexual character, and short stature. Thorough history, clinical examination, and laboratory investigation, including dynamic function test (insulin tolerance test) were conducted. These tests confirmed that she had multiple endocrinopathies, including hypogonadotropic hypogonadism, growth hormone deficiency, and subclinical adrenal insufficiency, which were caused by iron overload. She required hormone replacement therapy. Early recognition of possible deficiencies in hypothalamo-pituitary-end organ hormones caused by iron overload in thalassemia patients that undergo frequent blood transfusion procedures is essential. Appropriate treatments, including transfusion regimen and chelation therapy, as well as specific treatment of each complication are the crucial for the successful management and improvement of quality of life these patients.

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High Prevalence of “Biochemical” Adrenal Insufficiency in Thalassemics: Is It a Matter of Different Testings or Decreased Cortisol Binding Globulin?

Abstract: The 1 μg cosyntropin test could be an adrenal function screening test in thalassemics. However, for definite diagnosis, ITT should be performed in those having peak total cortisol of less than 16 μg/dl after the 1 μg cosyntropin test.

Cited by 27 publications

References 29 publications

A Review of Endocrine Disorders in Thalassaemia

A Review of Endocrine Disorders in Thalassaemia

Cardiovascular Function and Treatment in β-Thalassemia Major

Multiple Endocrinologic Complications in Thalassemia Major

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