Tratamiento de la hipercolesterolemia familiar con iPCSK9 en un paciente diagnosticado de distrofia muscular congénita con contraindicación para la toma de estatinas / iPCSK9 treatment of Familial Hypercholesterolemia in a patient diagnosed as Congenital Muscular Dystrophy with contraindication for statin use

Las estatinas están contraindicadas en pacientes con miopatías. Hasta hace unos años, la alternativa en pacientes con hipercolesterolemia familiar que tenían distrofias musculares y no conseguían niveles adecuados de colesterol era la lipoaféresis. Cuando surgieron los inhibidores de PCSK9, se consiguió suspender la lipoaféresis en algunos de estos pacientes y mantenerlos con concentraciones plasmáticas de colesterol adecuadas. Presentamos el caso de un varón, diagnosticado en la infancia de distrofia muscular congénita. A los 27 años se remitió a la unidad de lípidos por hipercolesterolemia, donde tras estudio genético se confirmó una hipercolesterolemia familiar heterocigota. A pesar del tratamiento con dieta y ezetimiba continuó con cifras elevadas de cLDL por lo que se incluyó en programa de lipoaféresis. Con esto se alcanzaron niveles de cLDL de 70 mg/dl. Al disponer de los iPCSK9, se suspendió la lipoaféresis y se inició tratamiento con alirocumab 150 mg quincenal, con buena respuesta y manteniendo valores de cLDL en torno a 75 mg/dl

Statins are contraindicated in patients with myopathies. Until a few years ago, in those patients with Familial Hypercholesterolemia who also presented muscular dystrophies and didńt reach adequate cholesterol plasmatic levels, the next therapeutic ladder was lipoapheresis. When iPCSK9 first appeared, lipoapheresis could be suspended in some of these patients, sustaining nevertheless proper levels of cholesterol. We present the case of a 27 year-old male, diagnosed with Congenital Muscular Dystrophy in the early childhood. He was referred to the Unit of Lipidology presenting hypercholesterolemia which, after genetic test, was assessed as Heterozygous Familial Hypercholesterolemia. Despite of treatment with diet and ezetimibe, cLDL blood levels abide high, being consequently included in lipoapheresis programme, therewith obtained levels of cLDL of 70 mg/dl. In providing iPCSK9, lipoapheresis was withdrawn and treatment with alirocumab 150 mg fortnightly introduced, unveiling a positive response, and sustaining cLDL levels around 75 mg/dl

iPCSK9 treatment of Familial Hypercholesterolemia in a patient diagnosed as Congenital Muscular Dystrophy with contraindication for statin use. / Tratamiento de la hipercolesterolemia familiar con iPCSK9 en un paciente diagnosticado de distrofia muscular congénita con contraindicación para la toma de estatinas.

Statins are contraindicated in patients with myopathies. Until a few years ago, in those patients with Familial Hypercholesterolemia who also presented muscular dystrophies and didnt reach adequate cholesterol plasmatic levels, the next therapeutic ladder was lipoapheresis. When iPCSK9 first appeared, lipoapheresis could be suspended in some of these patients, sustaining nevertheless proper levels of cholesterol. We present the case of a 27 year-old male, diagnosed with Congenital Muscular Dystrophy in the early childhood. He was referred to the Unit of Lipidology presenting hypercholesterolemia which, after genetic test, was assessed as Heterozygous Familial Hypercholesterolemia. Despite of treatment with diet and ezetimibe, cLDL blood levels abide high, being consequently included in lipoapheresis programme, therewith obtained levels of cLDL of 70mg/dl. In providing iPCSK9, lipoapheresis was withdrawn and treatment with alirocumab 150mg fortnightly introduced, unveiling a positive response, and sustaining cLDL levels around 75mg/dl.

Validity of procalcitonin for the diagnosis of bacterial infection in elderly patients.

INTRODUCTION: PCT has been consolidated as a key tool in the diagnosis of bacterial infections in general population. Few studies have been conducted to determine the applicability of this test in elderly patients. METHODS: Study of validity of PCT on elderly patients. Two groups were formed; the first group was formed by patients aged 75 years or older, under bacterial infection criteria and PCT on the initial Lab test. The second group was formed by patients aged 75 years or older with any noninfectious disease; these patients were asked PCT in the initial Lab test. Sensitivity, specificity, positive and negative likelihood ratio were calculated. RESULTS: 161 patients were included, 95 with probable bacterial infection and 66 without infection. Patients with probable bacterial infection criteria, 72% of them had PCT >0.5 ng/mL. Patients without infection, 8% of the patients had PCT >0.5 ng/mL. Sensitivity and specificity of PCT to bacterial infection with the cutoff value of 0.5 ng/mL was 72% and 92%, respectively. CONCLUSION: PCT can be used in elderly patients to diagnose bacterial infections because it has proved good sensitivity and high specificity.