Asunto(s)
Cardiomiopatías/etiología , Trasplante de Corazón/efectos adversos , Sarcoidosis/etiología , Adulto , Biopsia , Cardiomiopatías/diagnóstico , Diagnóstico Diferencial , Humanos , Imagen por Resonancia Cinemagnética , Masculino , Tomografía Computarizada por Tomografía de Emisión de Positrones , Recurrencia , Sarcoidosis/diagnósticoRESUMEN
Effective treatments for mutated transthyretin (TTR)-related cardiac amyloidosis are limited. Heart transplantation or combined liver-heart transplantation are the most successful options, although results rely on underline mechanism and systemic nature of the disease. In this report, we present the first case of a Caucasian patient with the p.Val122Ile mutated TTR-related cardiac amyloidosis treated with heart transplantation due to this gene mutation frequent in Afro-Americans with a prevalent isolated heart involvement. The choice of isolated heart transplantation instead of combined heart and liver transplantations was based on (1) severe and progressive cardiac disease, (2) evidence of a gene mutation generally associated with isolated cardiac disease and (3) absence of relevant extra-cardiac involvement (with the possible exception of mild peripheral neuropathy). In any case, the very short post-transplant observation period of 10 months does not allow any conclusions on the long-term course of the presented strategy. Finally, it is the first European Caucasian family with the p.Val122Ile TTR mutation that has been described. Till now, very few Caucasian cases of p.Val122Ile mutated TTR-related cardiac amyloidosis have been reported. The patient and some members of his family also had mild peripheral neuropathy suggesting a regional phenotypic heterogeneity of European Caucasian TTR p.Val122Ile.
Asunto(s)
Amiloide/genética , Amiloidosis Familiar/diagnóstico por imagen , Cardiomiopatías/diagnóstico por imagen , Trasplante de Corazón , Prealbúmina/genética , Amiloidosis Familiar/genética , Amiloidosis Familiar/cirugía , Cardiomiopatías/genética , Cardiomiopatías/cirugía , Análisis Mutacional de ADN , Humanos , Masculino , Persona de Mediana Edad , Ultrasonografía , Población BlancaRESUMEN
Chronic inflammatory demyelinating polyneuropathy (CIDP) can occur in association with other systemic diseases such as diabetes mellitus (DM) and IgG or IgA monoclonal gammopathy of undetermined significance (MGUS). Whether CIDP that is idiopathic (I-CIDP) or associated with diabetes (CIDP-DM) or MGUS (CIDP-MGUS) differ in clinical presentation, laboratory features, response to treatment, and long-term outcome is unclear, as is the relationship between these coexisting diseases and CIDP. In order to clarify this issue, we began a prospective follow-up study. Thirty-one consecutive patients with untreated CIDP, fulfilling the most restrictive diagnostic criteria, were enrolled over 18 months. Among the patients, 16 were diabetic, 7 had a MGUS, and 8 had an idiopathic CIDP. All patients were treated with IVIg, and the responders were treated again if they relapsed. In all three groups, improvement occurred after treatment. At the end of the follow-up, there was no difference in clinical conditions between groups, but a significant difference existed in the number of relapses and of IVIg administrations. CIDP-DM is a more severe disease, but with a significantly better response to IVIg and fewer relapses, than the other types that we studied.
