Osteoporosis In Thalassemia Dr Tarek Jawad INT 555

Case Presentation Local male Local male Case of beta thalassemia major Case of beta thalassemia major He presented at 3 years of age as a referral from Al Sagar Hospital as a case of chronic anemia He presented at 3 years of age as a referral from Al Sagar Hospital as a case of chronic anemia On repeated blood transfusions On repeated blood transfusions

BMD was done at 15 years of age BMD was done at 15 years of age At this age he was well under the 3 rd centile for height and weight At this age he was well under the 3 rd centile for height and weight

Overview Thalassemia major is a common cause if skeletal morbidity. Thalassemia major is a common cause if skeletal morbidity. Etiology  Multifactorial  A state of increased bone resorption and turnover Etiology  Multifactorial  A state of increased bone resorption and turnover

Osteoporosis It is a metabolic disease characterized by low bone mass and microarchitectural deterioration of bone tissue It is a metabolic disease characterized by low bone mass and microarchitectural deterioration of bone tissue This leads to enhanced bone fragility of and increased fracture risk This leads to enhanced bone fragility of and increased fracture risk

Types Primary Primary Bone mass loss related to ageing and loss of gonadal function in woman and the ageing process in men without any other chronic illness Bone mass loss related to ageing and loss of gonadal function in woman and the ageing process in men without any other chronic illness Secondary Secondary Results from a variety of chronic conditions that significantly contribute to bone mineral loss, or from the effects of medications and nutritional deficiencies Results from a variety of chronic conditions that significantly contribute to bone mineral loss, or from the effects of medications and nutritional deficiencies

Secondary Causes Chronic Diseases: Chronic Diseases: Thalassemia Thalassemia Cushing’s syndrome Cushing’s syndrome Anorexia nervosa Anorexia nervosa Hyperthyroidism Hyperthyroidism Hyperparathyroidism Hyperparathyroidism Marfan’s syndrome Marfan’s syndrome Hemochromatosis Hemochromatosis Multiple Myeloma Multiple Myeloma Hypercalcuria Hypercalcuria Hyperprolactinemia Hyperprolactinemia Renal tubular acidosis Renal tubular acidosis Chronic liver disease Chronic liver disease Medications: Medications: Steroids Excess thyroid hormones Gonadotropin-releasing hormone agonists Cyclosporine Methotrexate Phenobarbital Phenytoin Phenothiazines Heparin Desferal

Conditions Causing Nutritional Deficiencies: Conditions Causing Nutritional Deficiencies: Malabsorption Malabsorption Vit D deficiency Vit D deficiency Calcium deficiency Calcium deficiency Gastric and bowel resections Gastric and bowel resections Alcoholism Alcoholism Other Causes: Other Causes: Athletic amenorrhea Tobacco use Pregnancy

WHO Definition WHO defines according to the Bone Mineral Density (BMD) WHO defines according to the Bone Mineral Density (BMD) T-Score of 0 is equal to a healthy normal 30 year old T-Score of 0 is equal to a healthy normal 30 year old T-Score between -1 to -2.5 is osteopenia T-Score between -1 to -2.5 is osteopenia T-Score lower than -2.5 is osteoporosis T-Score lower than -2.5 is osteoporosis

Z-Score measures BMD compared to a typical healthy person of the same age as the patient Z-Score measures BMD compared to a typical healthy person of the same age as the patient The current accepted definition of low bone mass for all patients under 50 years of age is Z-Score lower than -2.0 The current accepted definition of low bone mass for all patients under 50 years of age is Z-Score lower than -2.0

WHO classifies osteoporosis as the most common metabolic bone disease in developed countries WHO classifies osteoporosis as the most common metabolic bone disease in developed countries

Other Tests Radiology  Spine X-Ray Radiology  Spine X-Ray MRI MRI Biochemical Biochemical

Pathophysiology In Thalassemia The causes in thalassemia include: The causes in thalassemia include: Marrow expansion Marrow expansion Anemia Anemia Transfusional hemosiderosis Transfusional hemosiderosis Delayed puberty Delayed puberty Use of desferal or oral chelation agents for iron overload Use of desferal or oral chelation agents for iron overload Multiple endocrinopathies Multiple endocrinopathies Lose IGF1 Lose IGF1 Low Vitamin D levels Low Vitamin D levels Genetic Factors Genetic Factors

Prevention Of Low Bone Mass An appropriate transfusion regimen An appropriate transfusion regimen Maintaining adequate chelation therapy Maintaining adequate chelation therapy Treatment of endocrine issues that may affect bone mass, such as delayed puberty/hypogonadism Treatment of endocrine issues that may affect bone mass, such as delayed puberty/hypogonadism Avoid Smoking Avoid Smoking Regular Exercise  20 – 30 minutes 3 – 4 times a week Regular Exercise  20 – 30 minutes 3 – 4 times a week Diet Rich in Calcium and Vitamin D Diet Rich in Calcium and Vitamin D

Treatment Sex steroid replacement therapy Sex steroid replacement therapy Calcimimetics Calcimimetics Anti-resorption agents Anti-resorption agents Combination therapy Combination therapy

Monitoring Of Treatment Biochemical parameters  bone and sex steroid profiles Biochemical parameters  bone and sex steroid profiles DEXA scan of spine and femoral neck DEXA scan of spine and femoral neck

References dbook2008.final.pdf dbook2008.final.pdf dbook2008.final.pdf dbook2008.final.pdf The Cleveland Clinic Center for Continuing Education © All Rights Reserved The Cleveland Clinic Center for Continuing Education © All Rights Reserved Guidelines For The Clinical Management Of Thalassemia 2 nd Edition. TIF Guidelines For The Clinical Management Of Thalassemia 2 nd Edition. TIF