Clinical and apparative investigation of large and small nerve fiber impairment in mixed cohort of ATTR-amyloidosis: impact on patient management and new insights in wild-type.

Introduction: Neuropathy in transthyretin (ATTR) amyloidosis is frequently underdiagnosed, delaying effective treatment. Early detection of large- and small-nerve fiber damage a comprehensive diagnostic algorithm impacts on clinical management.

Methods: A mixed cohort of patients with ATTR amyloidosis (wild type-wt, hereditary-v and TTR gene mutation carriers) of the Interdisciplinary Amyloidosis Centre of Northern Bavaria underwent clinical examination, nerve conduction studies (NCS), quantitative sensory testing (QST), sympathetic skin response (SSR), quantitative sudomotor axon reflex testing (QSART), and skin punch biopsies.

Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.

The liver-derived, circulating transport protein transthyretin (TTR) is the cause of systemic hereditary (ATTRv) and wild-type (ATTRwt) amyloidosis. TTR stabilization and knockdown are approved therapies to mitigate the otherwise lethal disease course. To date, the variety in phenotypic penetrance is not fully understood.

Amyloidosis-the Diagnosis and Treatment of an Underdiagnosed Disease.

Background: Systemic amyloidosis is a multi-system disease caused by fibrillary protein deposition with ensuing dysfunction of the affected organ systems. Its diagnosis is often delayed because the manifestations of the disease are variable and non-specific. Its main forms are light chain (AL) amyloidosis and transthyretinrelated ATTR amyloidosis, which, in turn, has both a sporadic subtype (wildtype, ATTRwt) and a hereditary subtype (mutated, ATTRv).

Amyloidosis in Heart Failure.

Purpose: Amyloidosis represents an increasingly recognized but still frequently missed cause of heart failure. In the light of many effective therapies for light chain (AL) amyloidosis and promising new treatment options for transthyretin (ATTR) amyloidosis, awareness among caregivers needs to be raised to screen for amyloidosis as an important and potentially treatable differential diagnosis. This review outlines the diversity of cardiac amyloidosis, its relation to heart failure, the diagnostic algorithm, and therapeutic considerations that should be applied depending on the underlying type of amyloidosis.

Prevalence of cardiovascular risk factors and diseases in patients with multiple myeloma undergoing autologous peripheral blood stem cell transplantation.

Multiple myeloma (MM) is the second most common hematologic malignancy and occurs similar to cardiovascular diseases (CVD), in the sixth/seventh decade. The aim of this retrospective cohort study was to evaluate the prevalence and prognostic value of cardiovascular risk factors (CVRF) and CVD in 325 patients with MM undergoing autologous peripheral blood stem cell transplantation (PBSCT) at the University Hospital of Würzburg between 03/2004 and 12/2011. Mean age in the total cohort was 61 years.

Detection of cardiac amyloidosis with F-Florbetaben-PET/CT in comparison to echocardiography, cardiac MRI and DPD-scintigraphy.

Purpose: Cardiac amyloidosis (CA) is a rare cause of heart failure with frequently delayed diagnosis, because specific early signs or symptoms are missing. Recently, direct amyloid imaging using positron emission tomography/computed tomography (PET/CT) has emerged. The aim of this study was to examine the performance of F-florbetaben-PET/CT in detection of CA, and compare it to echocardiography (echo), cardiac MRI (CMR) and scintigraphy.