[Severe hypocupremia and familial amyloid polyneuropathy]. / Hipocupremia severa y polineuropatía amiloidótica familiar por transtiretina.

INTRODUCTION: Introduction: we report a patient with transthyretin familial amyloid polyneuropathy (TTR-FAP) and severe hypocupremia. Case report: a 79-year-old male with TTR-FAP and severe malnutrition. Laboratory tests showed low serum copper (Cu) and ceruloplasmin levels, as well as low urinary Cu levels. The patient reported neither digestive symptoms nor previous gastrointestinal surgery. Liver function tests, iron metabolism, hemoglobin, leukocytes and zinc were normal. Discussion: Cu is a trace element. It is part of the cuproenzymes involved in several physiological functions. Hypocupremia can be related to genetic or acquired etiologies, including low intake, bariatric surgery, increased losses, etc. Primary clinical manifestations include hematological (anemia and leukopenia) and neurological (myelopathy, peripheral neuropathy) features. Treatment is empirical. In severe cases it may be initiated with endovenose administration, followed by oral supplementation.

INTRODUCCIÓN: Introducción: presentamos el caso de un paciente con antecedentes de polineuropatía amiloidótica familiar por transtiretina (TTR-FAP) diagnosticado de hipocupremia severa. Caso clínico: varón de 79 años afecto de TTR-FAP. Visto en consulta de nutrición por desnutrición severa. En el estudio analítico presenta cifras de cobre (Cu) sérico y ceruloplasmina bajas, con Cu en orina también bajo. No tiene clínica digestiva ni antecedentes de cirugía gastrointestinal. Las pruebas de función hepática, la ferrocinética, las cifras de Hb y leucocitos y los niveles de zinc (Zn) no presentan alteraciones relevantes. Discusión: el Cu es un oligoelemento que participa como componente de las cuproenzimas en múltiples funciones fisiológicas. Los niveles séricos bajos pueden relacionarse con causas genéticas o adquiridas, como la baja ingesta, la cirugía bariátrica, el aumento de las pérdidas, etc. Las principales manifestaciones clínicas son hematológicas (anemia, leucopenia) o neurológicas (mielopatía, neuropatía periférica). El tratamiento tiene base empírica. En los casos severos puede iniciarse con administración intravenosa, seguido de mantenimiento por vía oral.

Amyloid cardiomyopathy in a large integrated health care system.

BACKGROUND: Light Chain (AL) and transthyretin (ATTR) amyloidosis are the most common forms of amyloid cardiomyopathy. Population based studies describing the epidemiology and clinical features of amyloid cardiomyopathy are often based in tertiary medical centers and thus may be limited by referral bias. METHODS AND RESULTS: We performed a cohort study of 198 patients diagnosed and treated in the Kaiser Permanente Northern California health care system who had a confirmed diagnosis of cardiac amyloidosis between 2001 and 2016. Associations between demographic, clinical, laboratory and imaging data and patient outcomes were quantified using multivariable Cox proportional hazard models for both the AL and ATTR groups. The average length of follow up was 2.8 years (SD 2.9 years) and overall survival was 69.1 percent at one year and 35.4 percent at five years. In the AL group, lower left ventricular ejection fraction (HR 1.33 per 5-point decrease, P < .001), coronary artery disease (HR 3.56, P < .001), and diabetes mellitus (HR 3.19, P < .001) were associated with all-cause mortality. Increasing age at the time of diagnosis with associated with higher all-cause mortality in both the AL and ATTR groups. Higher levels of B-type natriuretic peptide were associated with all-cause mortality in both groups: Top quartile BNP HR 6.17, P < .001 for AL and HR 8.16, P = .002 for ATTR. CONCLUSIONS: This study describes a large cohort of patients with amyloid cardiomyopathy derived from a community based, integrated healthcare system and describes demographic, clinical, and laboratory characteristics associated with mortality and heart failure hospitalization. In this population, coronary artery disease, diabetes mellitus, and high BNP levels were strongly associated with mortality.