Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
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Review
Neurological manifestations of hereditary transthyretin amyloidosis: a focus on diagnostic delays.
The recent availability of disease-modifying therapies for hereditary transthyretin amyloid (ATTRv) amyloidosis warrants urgency for earlier diagnosis and timely identification of active disease state among genetic carriers. ⋯ Our study found higher rates of polyneuropathy by examination than patient-reported symptoms, especially among those with V122I TTR amyloidosis, signalling asymptomatic polyneuropathy. Our findings suggest the need for routine neurological examinations and other testing for genetic carriers to achieve earlier identification of active disease state.
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Epidemiological data on hereditary transthyretin (ATTRv) amyloidosis from the northernmost region of Sweden (Norrbotten) are sparse. ⋯ The incidence of ATTRv amyloidosis increased 3-fold in Norrbotten between 2006 and 2018, most likely due to a previous underdiagnosis - with suggestions of lowered mortality during later years, possibly due to the introduction of disease-modifying drugs.
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Amyloidosis comprises a range of protein-folding disorders characterised by a buildup of amyloid deposits in one or multiple organs. The pathogenesis and pathologic findings of amyloidosis can vary widely due to the nature of the precursor protein. In veterinary medicine, there are 10 proteins known to form amyloid deposits in various organs. ⋯ This review addresses the transmission of AA amyloidosis pertinent to institutions, such as zoos, housing multiple individuals and species in relatively close proximity. In addition, this review includes summarisation for definitive diagnosis of single or multiple cases of amyloidosis affecting free-living wild and zoo animals. Insights into the diversity, transmission, and pathogenesis of known amyloidogenic proteins and species prevalently affected may help to establish a preventive intervention and stimulate the discovery of new diagnostic and therapeutic strategies.
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Hereditary transthyretin (ATTRv) amyloidosis is a progressive multisystemic disease of adult-onset that arises from an inherited mutation in the transthyretin gene. Currently available disease severity and progression evaluation tools only cover one single organ or system, impacting data collection uniformity and its use in clinical settings. ⋯ The resulting CD and DSS have different purposes. The ATTRv CD supports the collection of high-quality data for clinical research, whereas the ATTRv DSS can be rapidly conducted in a clinical setting and aid patient management.
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From a clinical perspective, there is a need for a reliable and comprehensive list of diseases causing AA amyloidosis. This list could guide clinicians in the evaluation of patients with AA amyloidosis in whom an obvious cause is lacking. In this systematic review, a PubMed, Embase and Web of Science literature search were performed on causes of AA amyloidosis published in the last four decades. ⋯ Disease associations were categorized and 48 were listed as strong, 19 as weak, 23 as unclear, and 60 as unlikely. Most newly described diseases are not really unexpected because they often cause longstanding inflammation. Based on the spectrum of identified causes, a pragmatic diagnostic approach is proposed for the AA amyloidosis patient in whom an obvious underlying disease is lacking.