Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis.

BACKGROUND: Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is an increasingly recognized cause of heart failure in older individuals. We sought to characterize the natural history of ATTR-CM and compare outcomes and quality of life among patients with acquired and hereditary forms of the disease. METHODS: We studied 711 patients with wild-type ATTR-CM, 205 with hereditary ATTR-CM associated with the V1221 variant (V122I-hATTR-CM), and 118 with non-V122I-hATTR-CM at the UK National Amyloidosis Center between 2000 and 2017. Patients underwent prospective protocolized evaluations comprising assessment of cardiac parameters, functional status by 6-minute walk test, quality of life according to the Kansas City Cardiomyopathy Questionnaire, and survival. Hospital service usage pre- and postdiagnosis was established using English central health records in a subset of patients. RESULTS: There was substantial diagnostic delay, with patients using hospital services a median (interquartile range) of 17 (9-27) times during the 3 years before diagnosis, by which time quality of life was poor; diagnosis of wild-type ATTR-CM was delayed >4 years after presentation with cardiac symptoms in 42% of cases. Patients with V122I-hATTR-CM were more impaired functionally ( P<0.001) and had worse measures of cardiac disease ( P<0.001) at the time of diagnosis, a greater decline in quality of life, and poorer survival ( P<0.001) in comparison with the other subgroups. CONCLUSIONS: ATTR-CM is an inexorably progressive and eventually fatal cardiomyopathy associated with poor quality of life. Diagnosis is often delayed for many years after symptoms develop. Improved awareness and wider use of recently validated diagnostic imaging methods are urgently required for patients to benefit from recent therapeutic developments.

Outcomes of faecal occult blood tests requested outside the UK National Bowel Cancer Screening Programme.

BACKGROUND AND AIMS: Faecal occult blood test (FOBt) is commonly requested by clinicians in both primary and secondary care. The aim of this study was to examine the use and outcomes of clinician-requested FOB testing in a single Trust taking part in the National Bowel Cancer Screening Programme pilots. METHODS: Data from a single Trust was used. The Trust's pathology reporting system was searched retrospectively for all FOBt study requests in 1 year. In patients with a positive test, the Trust's clinical results reporting system was searched to determine the type and outcome of any investigations. Patients with positive tests were cross-matched with the Trust's colorectal cancer database to detect interval cancers. RESULTS: 1363 FOB tests were requested during the calendar year. 715 (52.5%) were completed. Mean age was 60.6 years, 30.7% of patients were in the screening age group. 60 (4.4%) patients were FOBt positive. Total colonic imaging was performed in only 22% of those who were FOBt positive. Significant pathology was detected in five patients (0.4%) including three colonic carcinomas. There were no interval cancers in the FOBt-positive group. CONCLUSIONS: The number of FOBt requests has increased with the introduction of a colorectal cancer screening programme. The FOBt completion rate and colonic imaging rate in FOBt-positive patients outside the national screening programme was low. Guidelines for the use of FOBt outside of screening are needed.