INTRODUCTION Amyloidosis derived from transthyretin (TTR) molecules is typically caused by mutations of the TTR gene. METHODS We describe an elderly patient with a severe length-dependent polyneuropathy that unexpectedly proved to be caused by wild-type transthyretin amyloidosis. RESULTS The diagnosis was made by muscle biopsy, because no amyloid deposits were found in the biopsied nerve se...

Infiltration of the heart from insoluble protein deposits in amyloidosis often results in restrictive cardiomyopathy that manifests late in its course with heart failure and conduction abnormalities. While the rare primary amyloidosis-related heart disease has been well characterized, senile amyloidosis occurring in the seventh decade of life most frequently affects the heart. Early diagnosis o...

AIMS To establish a clinical and molecular diagnosis in a family with late onset lattice corneal dystrophy. METHODS Linkage analysis, single strand conformation polymorphism (SSCP) analysis, and direct sequencing of genomic DNA were performed. A review of the patients' clinical symptoms and signs was undertaken. RESULTS Linkage to chromosome 9q34 was established and a mutation in the gelsol...

Hazenberg BPC. Clinical approach of patients with systemic amyloidosis Amyloidosis is the name of diseases characterised by deposition of protein fibrils with a beta-sheet structure. This beta-sheet structure generates affinity of amyloid for Congo red dye and is resistant to proteolysis. The main three types of systemic amyloidosis are AA (related to underlying chronic inflammation), AL (relat...

BACKGROUND The purpose of the present study is to determine the association between neutrophil/lymphocyte ratio and both subclinical inflammation and amyloidosis in familial Mediterranean fever. METHODS Ninety-four patients with familial Mediterranean fever and 60 healthy volunteers were included in the study. Of the patients, 12 had familial Mediterranean fever related amyloidosis. The neutr...

BACKGROUND The aim of this study was to assess in amyloidosis prevalence in Korea between 2006 and 2015. METHODS Primary diagnoses related to amyloidosis, regardless of subtype, were collected from the Korean National Health Insurance Service from 2006 through 2015. RESULTS Overall, the age-standardized prevalence of amyloidosis was 0.93 (95% confidence interval (CI) 0.81, 1.04) persons per...

Amyloidosis refers to a variety of conditions in which amyloid proteins are abnormally deposited in organs and/or tissues. The most common forms of systemic amyloidosis are primary amyloidosis (PA) of light chains and secondary amyloidosis (SA) caused by chronic inflammatory diseases such as rheumatoid arthritis (RA). Although involvement of the thyroid gland by amyloid is a relatively common p...

Transthyretin (TTR) is a tetrameric protein. TTR misfolding and aggregation are associated with human amyloid diseases. Dissociation of the TTR tetramer is believed to be the rate-limiting step in the amyloid fibril formation cascade. Low pH is known to promote dissociation into monomer and the formation of amyloid fibrils. In order to reveal the molecular mechanisms underlying pH sensitivity a...

Background Misdiagnosis of ATTR and late diagnosis may be detrimental hampering adequate management and delaying therapy onset. Objective of the present study was to investigate in a large single-centre cohort of genetically– confirmed ATTR patients the prevalence, type and causes of misdiagnoses. Given the high frequency of cases erroneously diagnosed as having chronic inflammatory demyelinati...

Amyloid is an eosinophilic substance which appears “apple-green birefringence” in Congo red stained tissue sections under polarized light. This standard histological analysis is supported with immunochemistry technic using specific antibodies directed against most of the common human amyloid proteins, and also amyloid proteins can be identified with characteristic fibrillar appearance by electr...