Familial Amyloidotic Polyneuropathy (Fap) in Patients With Attr

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• Open Access
• Published: 14 October 2020

Patient-reported outcomes on familial amyloid polyneuropathy (FAP)

• Christel Langenstroer^ane,
• Frauke Friebel¹,
• Anna Hüsing-Kabar^one,
• Martin Dugas² &
• Hartmut H. Schmidt¹

Orphanet Journal of Rare Diseases volume 15, Article number:287 (2020) Cite this commodity

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Abstract

Groundwork

Transthyretin familial amyloid polyneuropathy (ATTR-FAP) is a rare autosomal dominant inherited illness affecting multiple organ systems. ATTR-FAP patients' experiences have rarely been documented. The aim of this study was to collect patient reported outcomes across unlike countries to appraise unmet needs and challenges. An bearding survey was conducted at the 2nd European meeting on ATTR amyloidosis in Berlin in September 2019. Survey questions captured data on demographics, clinical characteristics, diagnostic experience, quality of life, disability and ATTR-FAP management.

Results

A full of 38 ATTR-FAP patients from fifteen different countries participated in the survey. ATTR-FAP had a substantial impact on patients' day-to-twenty-four hour period life, including difficulties in standing, walking, and participation in community activities. It besides had negative furnishings on the mental health of patients. The survey highlighted several unmet needs and challenges from a patients' perspective, including (i) a need for increased awareness and a standardized diagnostic pathway, (ii) a need for improve treatment access and supportive intendance and (iii) a need for better information about research and clinical trials.

Conclusions

This global patient survey provides valuable findings to address ATTR-FAP patients' needs and challenges in order to farther the goal of patient-centered care.

Background

Transthyretin familial amyloid polyneuropathy (ATTR-FAP) is an autosomal ascendant inherited condition with over 100 different mutations identified worldwide in the transthyretin (TTR) factor [1, 2]. The near mutual mutation is Val30Met [1]. ATTR-FAP is estimated to affect 10,186 people worldwide. The prevalence varies across geographic regions and is higher in endemic countries like Portugal, Japan, Sweden and Brazil [iii,4,5].

ATTR-FAP is characterized by the deposition of TTR amyloid fibrils in different organ systems [1, v]. The most mutual form of ATTR-FAP affects the peripheral and autonomic nervous system, resulting in a length-dependent peripheral neuropathy. Thus, ATTR-FAP patients tin nowadays with various symptoms including loss of sensation in the extremities, carpal tunnel syndrome, erectile dysfunction, diarrhea, constipation and orthostatic hypotension [half-dozen,7,8]. The cardiac form of ATTR-FAP results in progressive heart failure with arrhythmias [9]. Due to the non-specific nature of symptoms, ATTR-FAP patients may often be seen by multiple specialists, leading to delays in an accurate diagnosis and different treatment recommendations. This has a considerable affect on patients' lives since ATTR-FAP leads to death in approximately 10 years later on the onset of symptoms without whatsoever treatment [1, 10].

Despite the considerable impact of this disease on patients' lives, the experiences and challenges of ATTR-FAP patients take rarely been documented. Still, patient reported outcomes are disquisitional for the acceptable management of patients considering physicians tend to underestimate symptom and disease severity by clinical evaluation [xi]. This may lead to inaccurate assessments and treatment decisions resulting in poor wellness-related quality of life. Thus, patient reported outcomes, in addition to the modified neuropathy impairment score, echocardiography and measurement of North-concluding pro-brain natriuretic peptide [12,13,xiv,xv], are invaluable to prepare private treatment goals and monitor the response to specific interventions in patients with ATTR-FAP.

The International Consortium for Health Outcomes Measurement (ICHOM) brings together international teams of patients, physicians and researchers to ascertain outcomes that matter about to patients [16]. It is believed that measuring and reporting standardized patient outcomes across multiple sites will help to address insufficiencies in wellness intendance and thus improve the performance of the health care organisation worldwide [17].

To our noesis, this has been the first study to collect ATTR-FAP patient reported outcomes beyond different countries. The aim of our survey was to study experiences, quality of life, and functional damage of ATTR-FAP patients in order to highlight their unmet needs and challenges.

Results

Patient characteristics and experiences

A total of 38 patients diagnosed with ATTR-FAP who attended the 2nd European coming together on ATTR-FAP in Berlin participated in the survey (long version n = 34, short version northward = four). These patients were recruited from 15 different countries including Australia (n = ane), Austria (northward = ii), Brazil (n = ane), Canada (northward = two), Denmark (due north = ane), England (northward = 6), France (n = 2), Germany (north = 5), Italia (n = ane), Netherlands (n = 5), New Zealand (n = ane), Portugal (n = 3), Sweden (n = 2), Switzerland (due north = one) and Venezuela (n = 1). Overall, the bulk of participants in the survey were from Europe (n = 27; 79%). Patient characteristics are summarized in Table 1. The hateful age of patients with ATTR-FAP was 53.3 years and 79% were men. The majority of patients were living together with a partner (79%) rather than lonely (21%). More half of the patients were currently working full-fourth dimension (38%) or function-time (21%) whereas 23% of patients were unable to work due to ATTR-FAP. eighteen% of patients were not working past choice, most of them being retired.

Table ane Summary of patient characteristics

Full size table

Median patient reported time from first symptom onset to diagnosis was ii years (IQR one–iv, range from 1 to 10); 25% of patients required more than iv years for an ATTR-FAP diagnosis. During this time, patients required a median of 3 visits to health care professionals (IQR 1–15, range from 1 to l), notwithstanding 25% of patients required more than 15 visits. These diagnostic delays are even more obvious when excluding patients who were diagnosed due to a positive family history and sequent genetic testing. In a majority of patients (62.v%), a biopsy and genetic test were performed to confirm the diagnosis of ATTR-FAP; 31.25% of patients underwent either a biopsy or genetic test, 6.25% had neither a biopsy or genetic test. At the fourth dimension of diagnosis, the most mutual organ systems being involved were the nervous (78%) and cardiovascular system (59%) followed by the gastrointestinal tract (38%), kidneys (19%) and eyes (xix%).

Taken together, our results show that there is a meaning filibuster between symptom onset and diagnosis of ATTR-FAP. The diagnosis was mostly simply not consistently based on combined biopsy and genetic testing.

Quality of life and functional impairment

On a scale from 1 to six (ane = poor wellness and 6 = excellent wellness), ATTR-FAP patients rated their full general wellness on average at 3, with 16% of patients reporting poor to fair health (Fig. 1a). Following conversion of the PROMIS-10 global concrete health score into T-score values, the data shows that the global concrete wellness of ATTR-FAP patients is one-half a standard deviation worse than the general US population. In other words, 63% of patients reported to be less healthy than the general Us population (Fig. 1b). The functioning level of ATTR-FAP patients (WHODAS 2.0 Inability score: 0 = total function and 100 = no function) ranges tremendously from 0 to 77 (Fig. 2a, Median 16, IQR eight–41). A majority of patients (61%) reported difficulties with day-to-twenty-four hour period work. Every bit shown in Fig. 2b, the principal areas of functional impairment include standing for long periods and walking a long altitude. This was followed by difficulties with participation in community activities, taking intendance of household activities, and concentrating for longer time periods. Moreover, a big proportion of patients reported that living with ATTR-FAP affected their emotional health ranging from mild (32%), to moderate (32%), to severe (8%; Fig. 2c).

Fig. 1

Quality of life of patients with ATTR-FAP. a Patient reported wellness score on a scale of 1 to six (1 = poor health, six = first-class wellness). Base of operations population: All respondents (n = 38). Question: In general, how would you rate your health? b PROMIS-10. The Global Concrete Health score was generated by summing responses to Global03, Global06, Global07 rescored, and Global08 rescored. Conversion tables were used to convert the Global Physical Health raw scores into T-score values on an private respondent. Base population: All respondents (n = 38). Questions: Global02: In general, how would yous charge per unit your quality of life? Global06: To what extent are yous able to carry out your everyday physical activities such as walking, climbing stairs, carrying groceries or moving a chair? Global07: In the past 7 days, how would you charge per unit your hurting on boilerplate? (Scale from 0 to 10: 0 is no pain and 10 is the worst imaginable pain) and Global08: In the by seven days, how would y'all rate your fatigue on average?

Full size image

Fig. 2

Functional impairment of patients with ATTR-FAP. a World Wellness Organization Inability Assessment Schedule two.0 (WHODAS 2.0). The scores assigned to each of the 12 items ("none" 0, "mild" 1, "moderate" 2, "severe" 3 and "extreme" 4) are summed for each private patient. This summed score is divided by 48 and multiplied by 100 in guild to determine a operation level ranging from 0% (full function) to 100% (no function) for each individual respondent. Base population: All respondents (n = 38). b World Health Arrangement Disability Assessment Schedule 2.0 (WHODAS two.0). Functional impairment based on the individual items: day-to-day work, maintaining a friendship, dealing with foreign people, getting dressed, washing your torso, concentrating on doing something for more 10 min, joining in community activities, learning a new task, taking care of household responsibilities, walking a long altitude such as a kilometer and continuing for long periods such as 30 min. The scores assigned to each of the above-mentioned items ("none" 0, "mild" 1, "moderate" 2, "severe" 3 and "extreme" 4) are summed for each detail across all patients. This summed score is divided by 152 and multiplied by 100 in guild to requite a inability score ranging from 0% (full part) to 100% (no function). Base population: All respondents (n = 38). c Patient reported mental wellness. Base population: All respondents (n = 38). Question: In the past 30 days, how much have you been emotionally affected by your health bug?

Full size image

In summary, our findings show that ATTR-FAP has considerable impact on patients' daily lives including difficulties in basic functions such as continuing, walking and participation in customs activities.

ATTR-FAP Management

Approximately 3 health care professionals were involved in the ongoing management of ATTR-FAP patients, with cardiologists (96%) and neurologists (84%) seen about ofttimes (Fig. 3a). A majority of patients believed that the health care professionals involved in their direction functioned every bit a well-coordinated team (66%). All the same, in that location is yet a substantial proportion of patients stating that the wellness intendance professionals involved in their management functioned as a group of individuals (9%) or but occasionally as a well-coordinated team (25%, Fig. 3b). Annually, patients reported having a median of two (IQR ii–4, range from i–12) ATTR-FAP related health care visits.

Fig. 3

ATTR-FAP Direction. a Health care professionals involved in the care of ATTR-FAP. Base population: Respondents of the long version of the questionnaire. Two patients were not responding to the question (north = 32). Multiple-reply question with percentages calculation up to more than 100%. Question: Which of the following healthcare professionals are involved in the ongoing management of your ATTR amyloidosis? b Patients' experience on the coordination of care betwixt different specialists. Base population: Respondents of the long version of the questionnaire. Two patients were not responding to the question (due north = 32). Question: Which of the post-obit best describes the approach taken past your medical intendance providers in the management of your ATTR amyloidosis? c Handling of ATTR-FAP patients. Base of operations population: Respondents of the long version of the questionnaire. Ii patients were not responding to the question (n = 32). Multiple-answer question with percentages adding upwards to more than 100%. Question: ATTR amyloidosis treatment options: Delight tick all that apply

Total size image

The prospects for ATTR-FAP have changed with the approval of gene silencing drugs [xviii, xix]. Equally shown in Fig. 3c nigh half of the patients participating in the survey were currently existence treated with factor silencing drugs such equally Patisiran (34.iv%) and Inotersen (9.iv%) and the other half with TTR stabilizers such equally Tafamidis (28.one%) and Diflunisal (21.ix%). 18.8% of patients underwent liver transplantation. It is noteworthy to mention that 25% of patients have received more than than one handling. Nonetheless, access to handling varies considerably amid unlike countries and 12.5% of patients have non received any treatment still. A majority of patients (68.8%) would like access to a wider range of existing ATTR-FAP treatment options (Fig. 4a). Moreover, more half of patients (72%) desire more data about clinical trials. Keeping in heed that standing and walking difficulties are affecting patients' daily lives, the proportion of patients who have received or are currently receiving physiotherapy was relatively small (12.5%, Fig. 4b).

Fig. 4

ATTR-FAP management improvements. a Patients' beliefs regarding improvements that would help with the ongoing ATTR-FAP direction. Base of operations population: Respondents of the long version of the questionnaire. Two patients were not responding to the question (n = 32). Multiple-answer question with percentages calculation up to more than than 100%. Question: Which of the following would help with the ongoing management of your ATTR amyloidosis? b Physiotherapy in ATTR-FAP direction. Base population: Respondents of the long version of the questionnaire. 2 patients were not responding to the question (n = 32). Question: Physiotherapy in ATTR-FAP: Handling I heard of, treatment I have access to, treatment I have received or treatment I am currently receiving. Please tick all that utilise

Total size image

In summary, our results indicate that more than efforts are necessary to help secure best possible treatment and supportive care involving physiotherapy for patients with ATTR-FAP.

Discussion

To our knowledge, this is the offset survey focusing on patient reported outcomes in ATTR-FAP across different countries. This may exist due to the lack of standardized and disease specific patient reported outcome measures and the relative low prevalence of the disease in countries other than Portugal, Japan, Sweden and Brazil.

This survey, including validated wellness-related quality of life assessment tools, such every bit the PROMIS-10 und WHODAS two.0, reveals poorer health-related quality of life scores in patients with ATTR-FAP equally compared to the general population [xx]. ATTR-FAP has a substantial impact on patients' day-to-day life with difficulties in standing, walking and participation in community activities. It also has a negative upshot on the mental health of patients. These findings indicate that an assessment of functional damage focusing on basic physical functions (i.eastward. 6-minute walk test) and mental health (i.e. Patient Health Questionnaire (PHQ-9)) are essential to guide treatment decisions and to amend the quality of life in ATTR-FAP patients. Emerging therapies including cistron silencing drugs and lipid nanoparticle encapsulated CRISPR/Cas9 components targeting human TTR may stabilize or even improve basic physical functions and mental wellness. Moreover, this survey highlights several unmet needs and challenges for patients with ATTR-FAP, including (i) a need for increased awareness and a standardized diagnostic pathway, (ii) a need for better admission to the best possible handling and supportive care including physiotherapy, ergotherapy and nutritional consulting across different countries, and (iii) a demand for better information near research and clinical trials. Information technology is noteworthy that the diagnosis of ATTR-FAP was by and large but non consistently based on combined biopsy and genetic testing. A total of 7 (22%) participants in the survey did not have a genetic test. An explanation might be that these patients had a positive family history. Nevertheless, we endorse a combined biopsy and genetic testing equally an integral part of the diagnostic pathway. The Amyloidosis Alliance created in June 2018 is a network equanimous of xiv independent international patient organizations and groups which aims to exist the global voice of patients with amyloidosis. It has formed five working groups (job forces) on awareness and diagnosis, treatment, research, communication and advocacy to address unmet needs in patients with ATTR-FAP.

This survey has several potential limitations that should be taken into consideration including (i) selection bias, given the fact that a bulk of participants in the survey were from Europe (79%) and findings are solely based on patients who were able to attend the 2nd European meeting on ATTR-FAP in Berlin, (ii) remember bias, given the fact that findings are solely based on patient responses to airtight-concluded questions and not confirmed by medical records, and (iii) patients who participated in the survey may have been more than informed and engaged with their disease. Moreover, in that location was a predominance of males (79%) of the respondents. Thus, the survey population may not exist fully representative of a heterogenous ATTR-FAP population. However, a central forcefulness of this survey is that findings directly reverberate patients' perspectives on ATTR-FAP.

Conclusions

The health care system has increased efforts to provide more than patient-centered intendance past customizing care to private patient's needs [21, 22]. Thus, understanding what matters virtually to patients is unique and of significant value. This survey provides valuable findings that may be used in time to come research to accost ATTR-FAP patients' needs and challenges on the way to patient-centered care.

Patients and methods

Study design

Patients were recruited during the second European meeting on ATTR-FAP for patients and doctors in Berlin from September 1st to 3rd 2019. For transparency, the survey was announced in the official program and patient meetings.

Survey details

The domains and questions of the survey were initially generated and discussed at a local roundtable coming together of experts involved in the treatment of ATTR-FAP at the University Hospital of Münster on the basis of a literature review. Nosotros employed the Patient Reported Outcomes Measurement Data System Short Form Version one.1 Global Health (PROMIS-10 ©2006–2017 PROMIS Health Organization) [20] to appraise quality of life and the World Health System Disability Assessment Schedule two.0 (WHODAS 2.0 12-item instrument) [23] to assess disability. A research collaboration was established with the Institute of Medical Computer science to generate an electronic form for the documentation of patient data and its implementation on iPad devices. The final questionnaire was reviewed and edited by all co-authors. This survey was developed to be primarily conducted on iPads with an approximate time for completion of 10 min (curt version) and xx min (long version). The survey was available in 2 languages: English and Spanish (but short version).

In the long version of the questionnaire, patient reported data on demographics, clinical characteristics, ATTR-FAP diagnostic feel, quality of life, functional impairment and ATTR-FAP management were collected. In the short version, the chief focus was on data collection related to quality of life and functional impairment. Both surveys are available online at https://medical-data-models.org/41269 (long version) and https://medical-data-models.org/41268 (curt version).

Data analysis

Global data was analyzed using Microsoft Excel for Mac (Version sixteen.25) and GraphPad Prism Version eight.21 (GraphPad Software, La Jolla, CA). Survey responses were summarized using descriptive statistics, including means, medians and percentages. In some instances, as indicated in the effigy legends, responses are presented equally scores compiled of individual responses.

Availability of data and materials

Surveys are available online at https://medical-information-models.org/41269 (long version) and https://medical-data-models.org/41268 (short version). The datasets used and analyzed during the electric current report are available from the corresponding author on reasonable request.

Abbreviations

ATTR-FAP:

Transthyretin familial amyloid polyneuropathy

TTR:

Transthyretin

SD:

Standard deviation

IQR:

Interquartile range

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Acknowledgements

All authors acknowledge the High german patient representative group Familiäre Amyloid Polyneuropathie (FAP e.V.) for organizing the 2nd European meeting on ATTR amyloidosis for patients and doctors in Berlin.

Funding

Open Admission funding enabled and organized by Projekt Bargain. The authors declare that they take not received specific funding for this study.

Author data

Affiliations

1. Medizinische Klinik B (Gastroenterologie, Hepatologie, Endokrinologie, Klinische Infektiologie), Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A14, 48149, Münster, Federal republic of germany

   Fabian J. Bolte, Christel Langenstroer, Frauke Friebel, Anna Hüsing-Kabar & Hartmut H. Schmidt

2. Institut für Medizinische Informatik, Universitätsklinikum Münster, Münster, Germany

   Martin Dugas

Contributions

Conception and Design: Fabian J Bolte. Collection and associates of information: Fabian J Bolte, Christel Langenstroer, Frauke Friebel. Data analysis: Fabian J Bolte. Data give-and-take and interpretation: All authors. Manuscript writing: Fabian J Bolte. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Fabian J. Bolte.

Ethics declarations

Ideals approval and consent to participate

The written report was approved past the ethical review committee in Münster (2020-609-f-Southward). All participants of the survey read, understood and accepted the following statement: "The aim of this survey is to gain views and experiences of patients diagnosed with ATTR amyloidosis to provide a better agreement of ATTR patient needs and challenges. Whatever information that y'all disclose in this survey will be treated in strict conviction and no answers will be owing to you equally an individual."

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

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Bolte, F.J., Langenstroer, C., Friebel, F. et al. Patient-reported outcomes on familial amyloid polyneuropathy (FAP). Orphanet J Rare Dis 15, 287 (2020). https://doi.org/x.1186/s13023-020-01575-6

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• Received: 04 November 2019

• Accustomed: 05 October 2020

• Published: 14 Oct 2020

• DOI : https://doi.org/10.1186/s13023-020-01575-6

Keywords

• Transthyretin
• Amyloidosis
• Patient reported outcomes
• Illness burden
• Disability

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