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Review
. 2016 Feb;29 Suppl 1(Suppl 1):S14-26.
doi: 10.1097/WCO.0000000000000289.

First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

David Adams  1 , Ole B Suhr, Ernst Hund, Laura Obici, Ivailo Tournev, Josep M Campistol, Michel S Slama, Bouke P Hazenberg, Teresa Coelho; European Network for TTR-FAP (ATTReuNET)
Affiliations
Review

First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

David Adams et al. Curr Opin Neurol. 2016 Feb.

Abstract

Purpose of review: 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.

Recent findings: 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.

Summary: 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.

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Figures

Box 1
Box 1
no caption available
FIGURE 1
FIGURE 1
Strategy for specific therapy in TTR-FAP. CI, contraindications; LT, liver transplantation; TTR-FAP, transthyretin familial amyloid polyneuropathy. aCI for LT include: active and uncontrolled cancer; aged > 50 years for males and > 70 years for females [▪▪,77], except for Italy (aged >65 years); modified body mass index below 800 kg/m2·g/L; some non-Val30Met TTR mutations; cardiac insufficiency. bStage I: walking unaided outside. cStage II: walking with aid. dProtocol clinical trial for antisense oligonucleotides, small interfering RNA, combination doxycycline–tauroursodeoxycholic acid; or diflunisal off-label. Adapted from [1▪].
FIGURE 2
FIGURE 2
Algorithm for patient follow-up during treatment for TTR-FAP (compiled from clinical experience of ATTReuNET in March 2014). AE, adverse event; ECG, electrocardiogram; mBMI, modified body mass index; NIS, Neurological Impairment Scale; OH, orthostatic hypotension; PND, modified polyneuropathy disability score; TTR-FAP, transthyretin familial amyloid polyneuropathy; UTI, urinary tract infection. aQuarterly basis for those with more advanced (stage II, III) disease unless responding well to treatment.
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References

    1. Adams D, Lozeron P, Lacroix C. Amyloid neuropathies. Curr Opin Neurol 2012; 25:564–572. - PubMed

    2. A recent and comprehensive review on the diagnosis and management of amyloid neuropathy.

    1. Dohrn MF, Rocken C, De Bleecker JL, et al. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. J Neurol 2013; 260:3093–3108. - PubMed

    2. A recent article illustrating the late diagnosis of TTR FAP in Germany.

    1. Coutinho P, da Silva AM, Lima JL. Glenner GG, e Costa PP, de Freitas AF, et al. Forty years of experience with type 1 amyloid neuropathy: review of 483 cases. Amyloid and Amyloidosis. Amsterdam: Excerpta Medica; 1980. 88–98.
    1. Hou X, Aguilar MI, Small DH. Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J 2007; 274:1637–1650. - PubMed
    1. Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007; 36:411–423. - PubMed

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Supplementary concepts