Hipertensión arterial vinculable desde un punto de vista etiológico al déficit de α-1-antitripsina

A 38-year-old male was evaluated to rule out secondary cause of arterial hypertension. He had no background or alcoholism or smoking and had previously suffered renal colic. He was asymptomatic, the physical examination showing abundant gray hair, mild kyphosis, and acropachy. A general protocol was used in the first assessment to look for secondary hypertension, observing polycythemia and urinary lithiasis. The spirometry and chest X-ray did not show any relevant alterations. After this, he had mild hypoxemia, increased erythropoietin, α-1-antitrypsin deficit and osteoporosis. The genetic study showed a MZ genotype. Coexistence of polycythemia and increased erythropoietin were mentioned as potential causal elements of his hypertension (both secondary to the α-1-antitrypsin deficit). The role of the urinary lithiasis, probably hypercalciuric, together with early grayness, are mentioned as potential causes of the osteoporosis. No relationship of this problem, in absence of hepatopathy, was found with the α-1-antitrypsin deficit.