Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Neurology and Therapy
Published in: Neurology and Therapy 2/2018

Open Access 01-12-2018 | Original Research

Characterizing the High Disease Burden of Transthyretin Amyloidosis for Patients and Caregivers

Authors: Michelle Stewart, Shannon Shaffer, Brian Murphy, Jane Loftus, Jose Alvir, Michael Cicchetti, William R. Lenderking

Published in: Neurology and Therapy | Issue 2/2018

Login to get access

Abstract

Introduction

Transthyretin amyloidosis (ATTR amyloidosis), whether manifesting as familial amyloid polyneuropathy (ATTR-PN) or cardiomyopathy (ATTR-CM), is a progressive, debilitating, and often fatal, rare disease requiring significant caregiver support. This study aims to better characterize the burden of disease for ATTR amyloidosis patients and caregivers.

Methods

Patients and caregivers in the USA and Spain were recruited through patient advocacy groups to complete a cross-sectional survey. Assessments included the 12-Item Short Form Health Survey, the Work Productivity and Activity Impairment Questionnaire, the Zarit Burden Interview, pain and symptom measures, health care resource use measures, and caregiving burden measures.

Results

Respondents included 60 ATTR amyloidosis patients and 32 caregivers. Patients registered scores up to two standard deviations below normal for physical health, impairment in quality of life, and reduced work productivity. Patients with liver transplant versus without liver transplant reported better overall outcomes, and those without liver transplant reported a greater impact on physical versus mental health. A high rate of health care utilization in the 3 months prior to the survey was reported by patients. Caregivers reported substantial burden, including poor mental health, work impairment, and much time spent providing care (mean 45.9 h/week). Work productivity was impacted for employed patients and caregivers.

Conclusion

ATTR amyloidosis was associated with high levels of impairment in many domains, including physical health, quality of life, and reduced productivity. Providing care for ATTR amyloidosis patients is associated with a negative impact on the mental health of caregivers. These results highlight the substantial burden of ATTR amyloidosis for patients and caregivers.

Trial Registration

ClinicalTrials.gov: NCT01604122.

Funding

Pfizer.
Literature
1.
Plante-Bordeneuve V. Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy. J Neurol. 2014;261:1227–33.CrossRefPubMed
2.
3.
Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid. 2003;10:160–84.CrossRefPubMed
4.
Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36:411–23.CrossRefPubMed
5.
Coelho T, Maurer MS, Suhr OB. THAOS—The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Curr Med Res Opin. 2013;29:63–76.CrossRefPubMed
6.
Rowczenio DM, Noor I, Gillmore JD, et al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat. 2014;35:E2403–12.CrossRefPubMed
7.
Sekijima Y, Yazaki M, Oguchi K, et al. Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. Neurology. 2016;87:773–81.CrossRefPubMed
8.
Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol. 2010;7:398–408.CrossRefPubMed
9.
10.
Koike H, Misu K, Ikeda S, et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol. 2002;59:1771–6.CrossRefPubMed
11.
Koike H, Tanaka F, Hashimoto R, et al. Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas. J Neurol Neurosurg Psychiatry. 2012;83:152–8.CrossRefPubMed
12.
Conceicao I, De Carvalho M. Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal. Muscle Nerve. 2007;35:116–8.CrossRefPubMed
13.
14.
Ericzon BG, Wilczek HE, Larsson M, et al. Liver transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation. 2015;99:1847–54.CrossRefPubMed
15.
16.
17.
Ando Y, Sekijima Y, Obayashi K, et al. Effects of tafamidis treatment on transthyretin (TTR) stabilization, efficacy, and safety in Japanese patients with familial amyloid polyneuropathy (TTR-FAP) with Val30Met and non-Val30Met: a phase III, open-label study. J Neurol Sci. 2016;362:266–71.CrossRefPubMed
18.
Barroso FA, Judge DP, Ebede B, et al. Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years. Amyloid. 2017;24:194–204.CrossRefPubMed
19.
Coelho T, Maia LF, da Silva AM, et al. Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol. 2013;260:2802–14.CrossRefPubMedPubMedCentral
20.
Coelho T, Maia LF, Martins da Silva A, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012;79:785–92.CrossRefPubMedPubMedCentral
21.
Coelho T, Merlini G, Bulawa CE, et al. Mechanism of action and clinical application of tafamidis in hereditary transthyretin amyloidosis. Neurol Ther. 2016;5:1–25.CrossRefPubMedPubMedCentral
22.
Merlini G, Plante-Bordeneuve V, Judge DP, et al. Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis. J Cardiovasc Transl Res. 2013;6:1011–20.CrossRefPubMedPubMedCentral
23.
Adams D, Cauquil C, Labeyrie C, Beaudonnet G, Algalarrondo V, Theaudin M. TTR kinetic stabilizers and TTR gene silencing: a new era in therapy for familial amyloidotic polyneuropathies. Expert Opin Pharmacother. 2016;17:791–802.CrossRefPubMed
24.
25.
Jonsèn E, Athlin E, Suhr O. Familial amyloidotic patients’ experience of the disease and of liver transplantation. J Adv Nurs. 1998;27:52–8.CrossRefPubMed
26.
Gaskin J, Gomes J, Darshan S, Krewski D. Burden of neurological conditions in Canada. Neurotoxicology. 2017;61:2–10.CrossRefPubMed
27.
Shaw JW, Johnson JA, Coons SJ. US valuation of the EQ-5D health states: development and testing of the D1 valuation model. Med Care. 2005;43:203–20.CrossRefPubMed
28.
Szende AOM, Devlin N. EQ-5D value sets: inventory, comparative review and user guide. Dordrecht: Springer; 2010.
29.
Green CP, Porter CB, Bresnahan DR, Spertus JA. Development and evaluation of the Kansas City Cardiomyopathy Questionnaire: a new health status measure for heart failure. J Am Coll Cardiol. 2000;35:1245–55.CrossRefPubMed
30.
Gandek B, Ware JE, Aaronson NK, et al. Cross-validation of item selection and scoring for the SF-12 Health Survey in nine countries: results from the IQOLA Project. International Quality of Life Assessment. J Clin Epidemiol. 1998;51:1171–8.CrossRefPubMed
31.
Snaith RP, Zigmond AS. The hospital anxiety and depression scale, with the irritability-depression-anxiety scale and the Leeds situational anxiety scale: manual. London: GL Assessment; 1994.
32.
Spertus JA, Eagle KA, Krumholz HM, Mitchell KR, Normand SL. American College of Cardiology/American Heart Association Task Force on Performance Measures. American College of Cardiology and American Heart Association methodology for the selection and creation of performance measures for quantifying the quality of cardiovascular care. J Am Coll Cardiol. 2005;45:1147–56.CrossRefPubMed
33.
Vinik EJ, Vinik AI, Paulson JF, et al. Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2014;19:104–14.CrossRefPubMed
34.
Bergvall N, Brinck P, Eek D, et al. Relative importance of patient disease indicators on informal care and caregiver burden in Alzheimer’s disease. Int Psychogeriatr. 2011;23:73–85.CrossRefPubMed
Metadata
Title
Characterizing the High Disease Burden of Transthyretin Amyloidosis for Patients and Caregivers
Authors
Michelle Stewart
Shannon Shaffer
Brian Murphy
Jane Loftus
Jose Alvir
Michael Cicchetti
William R. Lenderking
Publication date
01-12-2018
Publisher
Springer Healthcare
Published in
Neurology and Therapy / Issue 2/2018
Print ISSN: 2193-8253
Electronic ISSN: 2193-6536
DOI
https://doi.org/10.1007/s40120-018-0106-z

Other articles of this Issue 2/2018

Neurology and Therapy 2/2018 Go to the issue

Acknowledgement

Acknowledgement to Authors, Referees, and Readers

Original Research

Phase 1 Parkinson’s Disease Studies Show the Dopamine D1/D5 Agonist PF-06649751 is Safe and Well Tolerated

Review

Antipsychotic-Related Movement Disorders: Drug-Induced Parkinsonism vs. Tardive Dyskinesia—Key Differences in Pathophysiology and Clinical Management

Review

A Systematic Review and Meta-Analysis of the Brief Cognitive Assessment for Multiple Sclerosis (BICAMS)

Case Series

Only Follow-Up of Memory B Cells Helps Monitor Rituximab Administration to Patients with Neuromyelitis Optica Spectrum Disorders

Commentary

European and American Guidelines for Multiple Sclerosis Treatment