ABSTRACT
Hyperaldosteronism is a common cause of secondary hypertension. It has been classically associated with the clinical triad of hypertension, unexplained hypokalemia, and metabolic alkalosis. We present a case of a 66-year-old man who experienced blindness, hypokalemia, and hypertension that was resistant to anti-hypertension medications. He was found to have a retinal detachment and central retinal vein occlusion (CRVO). Laboratory evaluation revealed a marked elevation of plasma aldosterone activity and suppressed renin. A computerized tomography (CT) abdomen was subsequently ordered, which revealed bilateral adrenal nodules. Adrenal vein sampling was performed, which confirmed bilateral hyperfunctioning adrenal nodules. He was successfully treated with spironolactone. CRVO in the setting of hyperaldosteronism is an uncommon presentation.
ABSTRACT
Defects in hemoglobin (Hb) involve qualitative as well as quantitative alterations in globin physiology. The former include classic sickle cell disease, while the latter include the thalassemias. Individuals with alpha- and beta-thalassemia (alpha- and beta-thal) 'trait' have reduced Hb chain synthesis. These individuals are asymptomatic, their condition often coming to light as incidental findings. We report here the evaluation of a previously healthy man with beta-thal minor who presented with acute splenic infarct in the context of severe dehydration. A hypercoagulability evaluation was performed and found to be negative. Hemoglobin electrophoresis was conducted to confirm the patient's thalassemia minor state. Sequencing of genomic DNA revealed the presence of distinct beta-globin gene mutations. We postulate that in this previously asymptomatic individual, his dual heterozygous mutation status in conjunction with severe environmental stressors altered his 'benign' Hb physiology and resulted in an acute arterial thrombosis, suggesting a sub classification of beta-thal minor into silent and latent categories.