Thalassemia natural history, complications and prognosis: Difference between revisions
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==Overview== | ==Overview== | ||
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==Complications== | ==Complications== | ||
Untreated thalassemia major eventually leads to death usually by [[heart failure]]. Therefore, birth screening is very important. β-thalassemia cardiomyopathy takes on two phenotypes: | The complications of thalassemia are largely related to iron overload from repeated transfusions. Iron deposition can occur in various organs. | ||
*'''Cardiac failure''': Iron deposition in the heart can cause an infiltrative cardiomyopathy. Symptoms of iron overload in the heart include shortness of breath, chest pain, decreased exercise tolerate, edema, and occasionally abdominal distension. The diagnosis of cardiac iron overload typically involves obtaining an echocardiogram (to assess for [[diastolic]] and [[systolic]] dysfunction). Echocardiogram can show a sparkled appearance of the involved chambers (from iron deposits) and sometimes a decreased ejection fraction). EKG typically shows low-voltage QRS complexes, due to the impaired electrical conduction through a disease heart containing significant iron. Laboratory workup that can assist with diagnosis includes measurement of troponin and nt-proBNP. | |||
*'''[[Thyroiditis]]''': Infiltrative thyroiditis can occur with iron overload from repeated transfusions from thalassemia. Iron deposition in the thyroid can be assessed via thyroid ultrasound and measurement of [[thyroid-stimulating hormone]] ([[TSH]]) and [[free thyroxine]] ([[t4]]) levels. | |||
Iron deposi Untreated thalassemia major eventually leads to death usually by [[heart failure]]. Therefore, birth screening is very important. β-thalassemia cardiomyopathy takes on two phenotypes: | |||
*Dilated phenotype: Left ventricular dilatation and impaired contractility are present. | |||
*Restrictive phenotype: Restrictive left ventricular filling is present along with [[pulmonary hypertension]], and [[right heart failure]]. | |||
The pathophysiology of β-Thalassemia [[cardiomyopathy]] is multifactorial, with myocardial iron overload and immunoinflammatory processes being the predominant mechanisms. | The pathophysiology of β-Thalassemia [[cardiomyopathy]] is multifactorial, with myocardial iron overload and immunoinflammatory processes being the predominant mechanisms. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]
Overview
Natural History
Complications
The complications of thalassemia are largely related to iron overload from repeated transfusions. Iron deposition can occur in various organs.
- Cardiac failure: Iron deposition in the heart can cause an infiltrative cardiomyopathy. Symptoms of iron overload in the heart include shortness of breath, chest pain, decreased exercise tolerate, edema, and occasionally abdominal distension. The diagnosis of cardiac iron overload typically involves obtaining an echocardiogram (to assess for diastolic and systolic dysfunction). Echocardiogram can show a sparkled appearance of the involved chambers (from iron deposits) and sometimes a decreased ejection fraction). EKG typically shows low-voltage QRS complexes, due to the impaired electrical conduction through a disease heart containing significant iron. Laboratory workup that can assist with diagnosis includes measurement of troponin and nt-proBNP.
- Thyroiditis: Infiltrative thyroiditis can occur with iron overload from repeated transfusions from thalassemia. Iron deposition in the thyroid can be assessed via thyroid ultrasound and measurement of thyroid-stimulating hormone (TSH) and free thyroxine (t4) levels.
Iron deposi Untreated thalassemia major eventually leads to death usually by heart failure. Therefore, birth screening is very important. β-thalassemia cardiomyopathy takes on two phenotypes:
- Dilated phenotype: Left ventricular dilatation and impaired contractility are present.
- Restrictive phenotype: Restrictive left ventricular filling is present along with pulmonary hypertension, and right heart failure.
The pathophysiology of β-Thalassemia cardiomyopathy is multifactorial, with myocardial iron overload and immunoinflammatory processes being the predominant mechanisms.
All Thalassemia patients are susceptible to health complications that involve the spleen (which is often enlarged and frequently removed) and gall stones. These complications are mostly prevalent to thalassemia Major and Intermedia patients.