Amyloidosis is uncommon, with age-adjusted incidences of between 6.1 and 10.5 per million person-years,[1] and an estimated 1275 to 3200 new cases occurring annually in the United States.[1, 2] The contemporary understanding of amyloidosis points to a group of complex sys‐ temic disorders involving the extracellular deposition of misfolded proteinaceous material in many organs, most commonly th...

LFT: liver function test PLCNA: primary localized cutaneous nodular amyloidosis INTRODUCTION Amyloidosis is a group of conditions that involve the deposition of amyloid proteins in various tissues. It is generally classified as either systemic or cutaneous. Primary localized cutaneous nodular amyloidosis (PLCNA) is the rarest form of cutaneous amyloidosis with the amyloid depositing in the derm...

The most serious issue in domino liver transplantation (DLT) using liver grafts from patients with transthyretin (TTR)-related familial amyloid polyneuropathy (FAP) is the development of iatrogenic transmitted amyloidosis (de novo amyloidosis) in DLT-recipients. However, little is known regarding the mechanisms of the initial stage of amyloid formation in these recipients. We detected initial l...

progress in Kumamoto, Japan (1967–2010). Proc Jap Acad Ser B Phys Biol Sci Nippon Gakushiin 2010;86:694–706. 4. Rapezzi C, Quarta CC, Obici L, Perfetto F, Longhi S, Salvi F, Biagini E, Lorenzini M, Grigioni F, Leone O, Cappelli F, Palladini G, Rimessi P, Ferlini A, Arpesella G, Pinna AD, Merlini G, Perlini S. Disease profile and differential diagnosis of hereditary transthyretin-related amyloid...

BACKGROUND Hereditary transthyretin amyloid (ATTR) amyloidosis is a rare but fatal autosomal dominant condition that is present all over the world. A liver transplantation has been shown to halt the progress of the disease in selected patients and is currently considered to be the standard treatment. Gastrointestinal manifestations are common in hereditary ATTR amyloidosis and are important for...

The amyloidoses are a group of life-threatening diseases in which fibrils made of misfolded proteins are deposited in organs and tissues. The fibrils are stable, insoluble aggregates of precursor proteins that have adopted an antiparallel beta-sheet structure. In type AA, or reactive, amyloidosis, the precursor protein of the fibrils is serum amyloid A (SAA). SAA is a 104-amino-acid protein tha...

Lysozyme amyloidosis is an exceedingly rare hereditary autosomal dominant amyloidosis, which is characterized by the precipitation of lysozyme protein within the body, leading to multi-organ dysfunction. Herein, we present the case of a U.S. family affected by lysozyme amyloidosis. In particular, we report pericardial disease involvement leading to recurrent pericardial effusion, which to our k...

Liver transplantation as a specific treatment of transthyretin amyloidosis was first performed in 1990. The rationale for this treatment was that removal of the source (liver) of the amyloid precursor protein (mutated transthyretin) would stop progression of the disease. Indeed, after orthotopic liver transplantation (OLT), mutant transthyretin (TTR) is rapidly cleared from circulation. In the ...

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...

AUTOSOMAL dominant amyloidoses characterized so far are most commonly associated with transthyretin (TTR), a plasma protein synthesized by the liver. The single gene for TTR is located on human chromosome 18; more than 70 TTR mutations have been documented. The most common type of hereditary amyloidosis is familial amyloid polyneuropathy type I (FAP, Portuguese type), a neuropathic form associa...