The frequency of FMF-related amyloidosis has been decreased by colchicine use over the past few decades. However, the beneficial effect of colchicine may differ in accordance with nephropathic stages. When used in proper doses and with compliance, colchicine is very effective in preclinical and proteinuric stages of FMF-related amyloidosis. Even so, a large number of patients with nephrotic ran...

A conception of amyloidosis as merely a complication of chronic syphilitic, tuberculous or septic disease of bones and joints or of chronic intrathoracic sepsis is no longer adequate. This older view has had to be modified as the association of amyloidosis with other diseases came to be recognized: the predisposing diseases are now known to include rheumatic and rheumatoid affections, myelomato...

BACKGROUND AND OBJECTIVES Cardiac involvement is frequent in systemic amyloidosis and is the most important determinant of the clinical outcome. The aims of this study were to assess the incidence and prognosis of cardiac amyloidosis and discuss the diagnostic issues related to cardiac amyloidosis. SUBJECTS AND METHODS We retrospectively studied all patients diagnosed with systemic amyloidosi...

Mutations in the protein transthyretin can cause as well as protect individuals from transthyretin amyloidosis, an incurable fatal inherited disease. Little is known, however, about the structural basis of pathogenic and clinically protective transthyretin mutants. Here we determined the solution structure of a transthyretin monomer that carries the clinically important T119M mutation. The stru...

Spanish Ministry of Economy and Competitiveness (grant N BFU 2012-36241) and Programa INNPACTO (grant N IPT-2011-0817-010000) (to Dr. Martin), and from the Agence Nationale de la Recherche (Programme Blanc BCNCT) (to Dr. Lambert). Dr. Alves was a recipient of a PhD grant SFRH/BD/27990/2006 and research grant PTDC/SAU-GMG/101874/2008 from FCT. Mrs. Medeiros was supported by a research grant from...

Amyloidosis is induced by deposition of amyloid proteins in various organs. Both systemic and localized type amyloidosis present with a variety of skin manifestations. Based on biochemical and immunological aspects, amyloid proteins are subdivided into several subtypes from different origins. Amyloid fibrils in primary and multiple myelomaassociated systemic amyloidosis are composed of immunogl...

Amyloidosis is a disease related to abnormal protein folding and deposition of that abnormal protein between cells of the body in various tissues and organs, resulting in multiple clinical manifestations. We report a case of amyloidosis with atypical features, isolated to the mediastinum, in a 75-year-old male who presented with fatigue and shortness of breath. Amyloidosis that is isolated to t...

Background Degenerative aortic stenosis (AS) and wild type transthyretin (TTR)-related cardiac amyloidosis (wt-ATTR) share a common demographic and clinical profile. It has been recently suggested that the coexistence of wt-ATTR could negatively influence the outcome of elderly patients with aortic stenosis undergoing transcatheter aortic valve replacement (TAVR). TTR-related cardiac amyloidosi...

Light chain amyloidosis has very rarely been reported in association with chronic lymphocytic leukemia (CLL). We reported on a 76-years-old female who presented with simultaneous kappa-restricted chronic lymphocytic leukemia (CLL) and a lambda-restricted multiple myeloma with plasma cells causing AL amyloidosis involving the heart. While monoclonal immunoglobulins occasionallyproduced by CLL ha...