Background—Cardiac transthyretin (ATTR) amyloidosis is a progressive and fatal cardiomyopathy for which several promising therapies are in development. The diagnosis is frequently delayed or missed due to limited specificity of echocardiography and the traditional requirement for histologic confirmation. It has long been recognised that technetium labelled bone scintigraphy tracers can localise to myocardial amyloid deposits and use of this imaging modality for diagnosis of cardiac ATTR amyloidosis has lately been revisited. We conducted a multicentre study to ascertain the diagnostic value of bone scintigraphy in this disease.

Early and accurate diagnosis of transthyretin familial amyloid polyneuropathy (TTR-FAP) represents one of the major challenges faced by physicians when caring for patients with idiopathic progressive neuropathy. There is little consensus in diagnostic and management approaches across Europe. The low prevalence of TTR-FAP across Europe and the high variation in both genotype and phenotypic expression of the disease means that recognizing symptoms can be difficult outside of a specialized diagnostic environment. The resulting delay in diagnosis and the possibility of misdiagnosis can misguide clinical decision-making and negatively impact subsequent treatment approaches and outcomes. This review summarizes the findings from two meetings of the European Network for TTR-FAP (ATTReuNET). This is an emerging group comprising representatives from 10 European countries with expertise in the diagnosis and management of TTR-FAP, including nine National Reference Centres. The current review presents management strategies and a consensus on the gold standard for diagnosis of TTR-FAP as well as a structured approach to ongoing multidisciplinary care for the patient. Greater communication, not just between members of an individual patient's treatment team, but also between regional and national centres of expertise, is the key to the effective management of TTR-FAP.

Amyloid A (AA) amyloidosis is a complication of chronic inflammatory conditions that develops when proteolytic fragments of serum amyloid A protein (SAA) are deposited in tissues as amyloid fibrils. Amyloid deposition in the kidney causes progressive deterioration in renal function. Eprodisate is a member of a new class of compounds designed to interfere with interactions between amyloidogenic proteins and glycosaminoglycans and thereby inhibit polymerization of amyloid fibrils and deposition of the fibrils in tissues.

Objective: Aspiration of subcutaneous abdominal fat is a simple and fast method for detecting systemic amyloidosis; however, the sensitivity of this approach remains undetermined. The aim of this study was to assess the accuracy of fat tissue aspiration for detecting systemic amyloidosis and the utility of this method in clinical practice.Methods: All consecutive patients with established and suspected systemic amyloidosis who attended our tertiary referral hospital between 1994 and 2004 underwent aspiration of subcutaneous abdominal fat. Congo red–stained tissue was assessed quickly in a single smear in a routine manner by a single observer, and was also assessed thoroughly in 3 smears by 2 independent observers.Results: One hundred twenty patients with established systemic amyloidosis were studied (38 with AA amyloidosis, 70 with AL amyloidosis, and 12 with ATTR amyloidosis). Routine (quick) assessment was associated with a sensitivity of 80% (95% confidence interval [95% CI] 72–87%). Sensitivity increased to 93% (95% CI 87–97%) when 3 smears were thoroughly examined. The specificity of fat aspiration in 45 control subjects was 100% (95% CI 92–100%). One hundred sixty‐two patients for whom there was a clinical suspicion of systemic amyloidosis were screened for amyloidosis by fat tissue aspiration and biopsy of at least 1 other tissue. In 69 (43%) of these 162 patients, a diagnosis of amyloidosis was established, and in 66 (96%) of these patients, the results of fat tissue aspiration were positive. The clinical utility of fat tissue aspiration was greater than that of biopsy of the rectum.Conclusion: Subcutaneous abdominal fat aspiration is the preferred method for detecting systemic amyloidosis, with sensitivity of 80% associated with use of a routine approach. The use of a thorough assessment (3 fat smears, 2 observers) increased sensitivity to >90%. If the results of fat tissue aspiration are negative, the additional value of a subsequent biopsy of the rectum is negligible.