Resumo

PESSOA, Marta  e  SERGIO, Carla. A rare cause of secondary arterial hypertension. Rev Port Med Geral Fam [online]. 2012, vol.28, n.2, pp.126-133. ISSN 2182-5173.

Introduction: Familial amyloid polyneuropathy (FAP) type 1, better known in Portugal as “Doença dos Pezinhos”, is a hereditary form of amyloidosis caused by the accumulation of a mutant protein (transthyretin). It is a rare disease which may be difficult to diagnose when there is no previous family history of the condition. Case description: This report describes the case of a 60-year-old Caucasian woman with a history of hypothyroidism, dyslipidemia, hyperuricemia, mixed anxiety and depressive disorder, chronic venous disease of the legs and hypertension. In June 2009, she was seen for the first time by her new family doctor, with laboratory results that showed proteinuria. A 24-hour urine collection for microalbuminuria and a renal scan were obtained. A diagnosis of chronic renal failure was made. The patient was referred for a nephrology consultation in a central hospital where additional tests were done to determine the cause of her illness. In August 2010, she was hospitalised in the nephrology unit with rapidly progressive renal failure with nephrotic proteinuria. A renal biopsy showed familial amyloidosis, Portuguese type (ATTR). She was then referred to the familial amyloid polyneuropathy clinic in another hospital. Comment: This case report shows the importance of adequate investigation in a patient with arterial hypertension. It also shows how rare causes may be considered in common clinical syndromes.

Palavras-chave : Amyloid Neuropathies; Familial; Hypertension; Kidney Diseases.

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