Clinical Epidemiology and Ageing


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Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner

Gertz M, Adams D, Ando Y, Beirão JM, Bokhari S, Coelho T, Comenzo RL, Damy T, Dorbala S, Drachman BM, Fontana M, Gillmore JD, Grogan M, Hawkins PN, Lousada I, Kristen AV, Ruberg FL, Suhr OB, Maurer MS, Nativi-Nicolau J, Quarta CC, Rapezzi C, Witteles R, Merlini G BMC Fam PractBMC Fam PractBMC Fam Pract. 2020;21:198.

BACKGROUND: Transthyretin amyloidosis (also known as ATTR amyloidosis) is a systemic, life-threatening disease characterized by transthyretin (TTR) fibril deposition in organs and tissue. A definitive diagnosis of ATTR amyloidosis is often a challenge, in large part because of its heterogeneous presentation. Although ATTR amyloidosis was previously considered untreatable, disease-modifying therapies for the treatment of this disease have recently become available. This article aims to raise awareness of the initial symptoms of ATTR amyloidosis among general practitioners to facilitate identification of a patient with suspicious signs and symptoms. METHODS: These consensus recommendations for the suspicion and diagnosis of ATTR amyloidosis were developed through a series of development and review cycles by an international working group comprising key amyloidosis specialists. This working group met to discuss the barriers to early and accurate diagnosis of ATTR amyloidosis and develop a consensus recommendation through a thorough search of the literature performed using PubMed Central. RESULTS: The cardiac and peripheral nervous systems are most frequently involved in ATTR amyloidosis; however, many patients often also experience gastrointestinal and other systemic manifestations. Given the multisystemic nature of symptoms, ATTR amyloidosis is often misdiagnosed as a more common disorder, leading to significant delays in the initiation of treatment. Although histologic evaluation has been the gold standard to confirm ATTR amyloidosis, a range of tools are available that can facilitate early and accurate diagnosis. Of importance, genetic testing should be considered early in the evaluation of a patient with unexplained peripheral neuropathy. CONCLUSIONS: A diagnostic algorithm based on initial red flag symptoms and manifestations of cardiac or neurologic involvement will facilitate identification by the general practitioner of a patient with clinically suspicious symptoms, enabling subsequent referral of the patient to a multidisciplinary specialized medical center.

MeSH terms: *Amyloid Neuropathies, Familial/diagnosis; *General Practitioners; AbbVie (Data Safety Monitoring board), Research to Practice; advisory boards for; Alnylam, and Pfizer. YA, JMB, and PNH have nothing to disclose. SB reports; and consulting; and grant funding; and has presented on behalf of Pfizer, Alnylam, GlaxoSmithKline,; ATTR amyloidosis; ATTRv; boards for Alnylam Pharmaceuticals and GlaxoSmithKline. MG reports grants from; Cardiomyopathy; Consensus; Diagnosis; Eidos Therapeutics, Pfizer, Alnylam Pharmaceuticals, and Prothena. IL has; fees from Millennium, Pfizer, Janssen, Prothena, and Ionis.; fees from Pfizer, GE Healthcare, and Advanced Accelerator Applications. BMD; FoldRx, Pfizer, Ionis, and Alnylam and received grants from FoldRx and Pfizer; from Amyloidosis Foundation, International Waldenstrom Foundation, Spectrum, and; from GlaxoSmithKline and reports personal fees from British Heart Foundation,; from Prothena, Janssen, Amgen, Takeda, Sanofi-Aventis, Unum, Caelum and reports; grant/research support from Prothena, Janssen, Takeda, and Karyopharm. TD reports; grants from Alnylam and Pfizer and personal fees from Prothena, GlaxoSmithKline,; grants from Pfizer and Alnylam Pharmaceuticals and reports personal fees from; grants from Pfizer and personal fees from Pfizer and Alnylam Pharmaceuticals. OBS; hATTR; Humans; Ionis Pharmaceuticals, Prothena Group, and GlaxoSmithKline. SD reports personal; Janssen and Prothena; meetings; personal fees from Alnylam Pharmaceuticals. CR reports grants from Pfizer and; personal fees from Pfizer and Alnylam Pharmaceuticals. RW reports grants from; personal fees from Pfizer. TC was paid per protocol for clinical trials from; Pfizer and Eidos Therapeutics and reports personal fees from Alnylam; Pfizer, Alnylam Pharmaceuticals, and Prothena. JDG participated in advisory; Pharmaceuticals and reports personal fees from Akcea Therapeutics, Ionis; Pharmaceuticals, Pfizer, and Eidos Therapeutics. GM has received honoraria from; Pharmaceuticals, Prothena Corp, Pfizer, Alnylam Pharmaceuticals, Eidos; Pharmacyclics and Proclara; Polyneuropathy; Prealbumin; Prothena, and Intellia. MSM reports grants from Pfizer and Alnylam; Prothena, and Ionis/Akcea and received honoraria. RLC reports consulting fees; received honoraria and travel and consultancy fees from Ionis/Akcea, Alnylam,; received honoraria from Akcea Therapeutics. AVK reports personal fees from Akcea; received support from Pfizer, Ionis, Biogen, and Alnylam to attend scientific; reports personal fees from Pfizer and Alnylam Pharmaceuticals. MF reports a grant; royalties from Springer Publishing; speaker fees from; Spectrum, Annexon, Appellis, Amgen, Medscape, Physicians Education Resource,; Teva, Johnson and Johnson, Medscape, DAVA Oncology; the National Cancer Institute (SPORE MM SPORE 5P50 CA186781–04). DA reports; Therapeutics, Alnylam Pharmaceuticals, and Ionis Pharmaceuticals. CCQ reports; Therapeutics, and Akcea Therapeutics and personal fees from Pfizer, Akcea; Therapeutics, and GlaxoSmithKline. JNN reports grants from Pfizer, Eidos; Therapeutics, Eidos Therapeutics, Pfizer, Alnylam Pharmaceuticals. FLR reports; Transthyretin amyloidosis; travel support from Prothena and Celgene