Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden

被引:9
作者
Gonzalez-Moreno, Juan [1 ,2 ]
Gaya-Barroso, Aina [2 ]
Losada-Lopez, Ines [1 ,2 ]
Rodriguez, Adrian [1 ,2 ]
Bosch-Rovira, Teresa [2 ,3 ]
Ripoll-Vera, Tomas [2 ,4 ]
Uson, Mercedes [2 ,5 ]
Figuerola, Antoni [2 ,5 ]
Descals, Cristina [2 ,5 ]
Montala, Carles [2 ,5 ]
Ferrer-Nadal, Maria Asuncion [2 ,6 ]
Cisneros-Barroso, Eugenia [1 ,2 ]
机构
[1] Hosp Univ Son Llatzer, Serv Med Interna, Crta Manacor Km 4, Palma De Mallorca 07198, Balearic Island, Spain
[2] Inst Invest Sanitaria Islas Baleares IdISBa, Balear Res Grp Genet Cardiopathies Sudden Death &, Palma De Mallorca, Balearic Island, Spain
[3] Hosp Univ Son Espases, Serv Med Interna, Carretera Valldemossa 79, Palma De Mallorca 07120, Balearic Island, Spain
[4] Hosp Univ Son Llatzer, Serv Cardiol, Crta Manacor Km 4, Palma De Mallorca 07198, Balearic Island, Spain
[5] Hosp Univ Son Llatzer, Serv Neurol, Crta Manacor Km 4, Palma De Mallorca 07198, Balearic Island, Spain
[6] Hosp Univ Son Llatzer, Serv Nefrol, Crta Manacor Km 4, Palma De Mallorca 07198, Balearic Island, Spain
关键词
Hereditary transthyretin amyloidosis; Burden of disease; Rare disease; Well-being; Caregivers; POLYNEUROPATHY; VAL30MET; EPIDEMIOLOGY; PENETRANCE; MANAGEMENT; PITFALLS;
D O I
10.1186/s13023-021-01910-5
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Background Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and progress to complete disability and death in most untreated patients within 10 to 15 years of diagnosis. The neurological effects may also be accompanied by gastrointestinal impairment, cardiomyopathy, nephropathy and/or ocular deposition. The disease is thus associated with a high degree of patient disability. Accordingly, we aimed to describe the psychosocial burden associated with ATTRv in a group of patients, asymptomatic Val50Met carriers, relatives and caregivers in the endemic focus of the disease in Majorca via a survey addressing various aspects related to psychosocial burden. We performed a an observational, descriptive, cross-sectional and multicentre study in order to analyze the prevalence of self-reported impact of ATTRv disease upon their daily life. In addition to the self-knowledge, fear and burden related to the disease. The survey was disseminated during the regular follow up at the outpatient clinic of the Hospital Universitario Son Llatzer and during the meetings organized by the Andrade's Disease patients' advocacy group from the Balearic Islands. These meetings were attended also by subjects followed up by the Hospital Universitario Son Espases and their caregivers and relatives. Survey was self-administrated. No intervention was done by the investigators. 85 subjects completed the survey: 61 carrying the TTR-V50M variant and 24 caregivers or relatives. Results Our study revealed that, although most of the population studied had had prior contact with ATTRv through affected relatives, there was still a lack of information regarding disease diagnosis. Fear of the genetic test result and psychological issues were common in our population. Moreover, the disease had a stronger impact on the daily life of our patients than that of our asymptomatic carriers. Autonomic symptoms were the main source of burden for relatives and caregivers. Conclusion Our survey results show high psychosocial burden associated with Val50Met-ATTRv in our area.
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页数:7
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共 26 条
  • [1] Regional difference and similarity of familial amyloidosis with polyneuropathy in France
    Adams, David
    Lozeron, Pierre
    Theaudin, Marie
    Mincheva, Zoia
    Cauquil, Cecile
    Adam, Clovis
    Signate, Aissatou
    Vial, Christophe
    Maisonobe, Thierry
    Delmont, Emilien
    Franques, Jerome
    Vallat, Jean-Michel
    Sole, Guilhem
    Pereon, Yann
    Lacour, Arnaud
    Echaniz-Laguna, Andoni
    Misrahi, Micheline
    Lacroix, Catherine
    [J]. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2012, 19 : 61 - 64
  • [2] A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal
    Alves-Ferreira, Miguel
    Coelho, Teresa
    Santos, Diana
    Sequeiros, Jorge
    Alonso, Isabel
    Sousa, Alda
    Lemos, Carolina
    [J]. MOLECULAR NEUROBIOLOGY, 2018, 55 (05) : 3676 - 3683
  • [3] Guideline of transthyretin-related hereditary amyloidosis for clinicians
    Ando, Yukio
    Coelho, Teresa
    Berk, John L.
    Cruz, Marcia Waddington
    Ericzon, Bo-Goran
    Ikeda, Shu-ichi
    Lewis, W. David
    Obici, Laura
    Plante-Bordeneuve, Violaine
    Rapezzi, Claudio
    Said, Gerard
    Salvi, Fabrizio
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
  • [4] BREIER A, 1988, ARCH GEN PSYCHIAT, V45, P987
  • [5] Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients
    Cappellari, Manuel
    Cavallaro, Tiziana
    Ferrarini, Moreno
    Cabrini, Ilaria
    Taioli, Federica
    Ferrari, Sergio
    Merlini, Giampaolo
    Obici, Laura
    Briani, Chiara
    Fabrizi, Gian Maria
    [J]. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2011, 16 (02) : 119 - 129
  • [6] Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis
    Connolly, Mark P.
    Panda, Saswat
    Patris, Julien
    Hazenberg, Bouke P. C.
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (01)
  • [7] Tabulation of human transthyretin (TTR) variants, 2003
    Connors, LH
    Lim, A
    Prokaeva, T
    Roskens, VA
    Costello, CE
    [J]. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2003, 10 (03): : 160 - 184
  • [8] Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy
    Dohrn, Maike F.
    Roecken, Christoph
    De Bleecker, Jan L.
    Martin, Jean-Jacques
    Vorgerd, Matthias
    Van den Bergh, Peter Y.
    Ferbert, Andreas
    Hinderhofer, Katrin
    Schroeder, J. Michael
    Weis, Joachim
    Schulz, Joerg B.
    Claeys, Kristl G.
    [J]. JOURNAL OF NEUROLOGY, 2013, 260 (12) : 3093 - 3108
  • [9] Fassino S, 2010, PANMINERVA MED, V52, P249
  • [10] Strategies to improve the quality of life in patients with hereditary transthyretin amyloidosis (hATTR) and autonomic neuropathy
    Gendre, Thierry
    Plante-Bordeneuve, Violaine
    [J]. CLINICAL AUTONOMIC RESEARCH, 2019, 29 (Suppl 1) : 25 - 31