BACKGROUND A Canadian family with oculoleptomeningeal amyloidosis with both central and peripheral nervous system disorders was described in 1988. Death of affected family members resulted from recurrent cerebral hemorrhage. OBJECTIVE To determine if oculoleptomeningeal amyloidosis is caused by a mutation in transthyretin (prealbumin). METHODS DNA isolated from peripheral blood and archival...

Acquired deficiency of factor X occurs in patients with systemic amyloid light-chain (AL) amyloidosis, presumably due to adsorption of factor X to amyloid fibrils. Of 368 consecutive patients with systemic AL amyloidosis evaluated at Boston Medical Center, 32 patients (8.7%) had factor X levels below 50% of normal. Eighteen of these patients (56%) had bleeding complications, which were more fre...

Sir, Hereditary amyloidosis is a rare disorder associated with mutations encoding seven proteins: transthyretin, apolipoproteins AI and AII, gelsolina, cystatin C, lysozyme and fibrinogen A. We report a case of renal amyloidosis affecting six members of a family, associated with a novel non-stop mutation in the apolipoprotein AII gene. A 42-year-old Caucasian male with nephrotic syndrome and re...

It takes at least several months from the suspicion of amyloidosis to diagnosis. This delays start specific therapy. Diagnosis should consist not only in differential diagnosis and confirmation diagnosis, but also determining type amyloidosis. The case report is interesting that paraclinical diagnostics determined picture characteristic ATTR-amyloidosis with involvement peripheral nervous syste...

Aortic stenosis (AS), a common condition affecting 3% of individuals aged >75 years, leads to heart failure and death unless the valve is replaced. Recently, patients with concomitant degenerative AS and transthyretin-related cardiac amyloidosis have been reported. One prospective study investigated the coexistence of cardiac amyloidosis in elderly patients with AS who were referred for an aort...

OBJECTIVE To investigate if serum apolipoprotein A-I and A-II (apoAI and apAII) concentrations change in subjects with systemic amyloidosis secondary to underlying disorders. METHODS Serum concentrations of apoAI and apoAII were measured in 21 multiple myeloma patients, including eight with amyloidosis; 95 rheumatoid arthritis patients, including 45 with amyloidosis; and 73 haemodialysis pati...

AMYLOIDOSIS is caused by the accumulation of amyloid fibrils in vital organs, leading to functional disturbances. Approximately 40% of patients with primary amyloidosis have had cardiac amyloidosis. In cardiac amyloidosis, right heart failure is the predominant sign, whereas left heart function is preserved until late in the disease. Because of the cardiac involvement, when patients with cardia...

Amyloidosis includes a spectrum of diseases that involve the deposition of misfolded proteins in various tissues throughout the body. There are many different proteins known to cause amyloidosis and the etiology of the amyloid subtype determines where the abnormal proteins deposit. AL, ATTRwt (formerly senile systemic amyloidosis), and ATTRm (formerly familial amyloidosis) are the most common a...

Abstract Background Bone scintigraphy is extremely valuable when assessing patients with suspected cardiac amyloidosis (CA), but the clinical significance and associated phenotype of different degrees myocardial tracer uptake across types yet to be defined. Purpose We sought define phenotypes varying on bone scintigraphy, multiple systemic using extensive characterisation comprising biomarkers,...