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Rare Diseases

Burden of Wilson Disease among patients and care partners in the United States: results from a cross-sectional survey

, ORCID Icon, ORCID Icon & ORCID Icon
Pages 863-876 | Received 05 Dec 2023, Accepted 28 Mar 2024, Published online: 14 Apr 2024

References

  • Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders. Lancet Neurol. 2015;14(1):103–113. doi: 10.1016/S1474-4422(14)70190-5.
  • Dress A, Theodore-Oklota C, Egan S, et al. The patient-reported experience of living with Wilson disease. Future Rare Diseases. 2021;1(3) doi: 10.2217/frd-2021-0003.
  • Ranucci G, Polishchuck R, Iorio R. Wilson’s disease: prospective developments towards new therapies. World J Gastroenterol. 2017;23(30):5451–5456. doi: 10.3748/wjg.v23.i30.5451.
  • Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet. 2006;120(2):151–159. doi: 10.1007/s00439-006-0202-5.
  • Członkowska A, Litwin T, Dusek P, et al. Wilson disease. Nat Rev Dis Primers. 2018;4(1):21. doi: 10.1038/s41572-018-0018-3.
  • Boga S, Ala A, Schilsky ML. Hepatic features of Wilson disease. Handb Clin Neurol. 2017;142:91–99. doi: 10.1016/B978-0-444-63625-6.00009-4.
  • Camarata MA, Ala A, Coskun AK, et al. The effect of mental health, neurological disease, and liver disease on quality of life in patients with wilson disease. J Acad Consult Liaison Psychiatry. 2021;62(5):528–537. doi: 10.1016/j.jaclp.2021.04.004.
  • Sandahl TD, Laursen TL, Munk DE, et al. The prevalence of Wilson’s disease: an update. Hepatology. 2020;71(2):722–732. doi: 10.1002/hep.30911.
  • Miloh T, Graper M, Michael S. Evaluating diagnosis and management gaps in Wilson disease: results from a qualitative patient survey. Adv Rare Dis. 2018;4(1) doi: 10.12715/ard.2014.3.1.
  • Masełbas W, Członkowska A, Litwin T, et al. Persistence with treatment for Wilson disease: a retrospective study. BMC Neurol. 2019;19(1):278. doi: 10.1186/s12883-019-1502-4.
  • Maselbas W, Litwin T, Czlonkowska A. Social and demographic characteristics of a polish cohort with Wilson disease and the impact of treatment persistence. Orphanet J Rare Dis. 2019;14(1):167. doi: 10.1186/s13023-019-1133-2.
  • Aggarwal A, Bhatt M. Advances in treatment of Wilson disease. Tremor Other Hyperkinet Mov. 2018;8(0):525. doi: 10.7916/D841881D.
  • Yuan XZ, Yang RM, Wang XP. Management perspective of Wilson’s disease: early diagnosis and individualized therapy. Curr Neuropharmacol. 2021;19(4):465–485. doi: 10.2174/1570159X18666200429233517.
  • Balijepalli C, Yan K, Gullapalli L, et al. Quality of life in Wilson’s disease: a systematic literature review. J Health Econ Outcomes Res. 2021;8(2):105–113. doi: 10.36469/jheor.2021.29987.
  • Merle U, Schaefer M, Ferenci P, et al. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study. Gut. 2007;56(1):115–120. doi: 10.1136/gut.2005.087262.
  • Dev S, Kruse RL, Hamilton JP, et al. Wilson disease: update on pathophysiology and treatment. Front Cell Dev Biol. 2022;10:871877. doi: 10.3389/fcell.2022.871877.
  • Karantzoulis S, Heuer K, Sparling N, et al. The patient experience of Wilson disease: a conceptual model based on qualitative research. Orphanet J Rare Dis. 2021;16(1):437. doi: 10.1186/s13023-021-02059-x.
  • Rustgi VK, Gupta K, Tait C, et al. Wilson’s disease: an analysis of health care use and cost burden of commercially insured adults in the United States. Hepatol Commun. 2022;6(2):389–398. doi: 10.1002/hep4.1812.
  • Dening TR, Berrios GE. Wilson’s disease. Psychiatric symptoms in 195 cases. Arch Gen Psychiatry. 1989;46(12):1126–1134. doi: 10.1001/archpsyc.1989.01810120068011.
  • Svetel M, Potrebić A, Pekmezović T, et al. Neuropsychiatric aspects of treated Wilson’s disease. Parkinsonism Relat Disord. 2009;15(10):772–775. doi: 10.1016/j.parkreldis.2009.01.010.
  • Svetel M, Pekmezović T, Tomić A, et al. Quality of life in patients with treated and clinically stable Wilson’s disease. Mov Disord. 2011;26(8):1503–1508. doi: 10.1002/mds.23608.
  • Schaefer M, Gotthardt DN, Ganion N, et al. Wilson disease: health-related quality of life and risk for depression. Clin Res Hepatol Gastroenterol. 2016;40(3):349–356. doi: 10.1016/j.clinre.2015.09.007.
  • LaVeist TA, Pérez-Stable EJ, Richard P, et al. The economic burden of racial, ethnic, and educational health inequities in the US. JAMA. 2023;329(19):1682–1692. doi: 10.1001/jama.2023.5965.
  • Sutcliffe RP, Maguire DD, Muiesan P, et al. Liver transplantation for Wilson’s disease: long-term results and quality-of-life assessment. Transplantation. 2003;75(7):1003–1006. doi: 10.1097/01.TP.0000055830.82799.B1.
  • Beinhardt S, Leiss W, Stättermayer AF, et al. Long-term outcomes of patients with Wilson disease in a large Austrian cohort. Clin Gastroenterol Hepatol. 2014;12(4):683–689. doi: 10.1016/j.cgh.2013.09.025.
  • Wu P, Zheng Y, Fan X, et al. Predictors of caregiver burden in patients with neurologic Wilson disease. J Int Med Res. 2020;48(6):300060520930156. doi: 10.1177/0300060520930156.
  • Unavane O, Tiwari K, Nagral A, et al. Quality of life of patients with Wilson’s disease and their families. J Clin Exp Hepatol. 2022;12(2):461–466. doi: 10.1016/j.jceh.2021.05.013.
  • Schulz R, Beach SR. Caregiving as a risk factor for mortality: the caregiver health effects study. JAMA. 1999;282(23):2215–2219. doi: 10.1001/jama.282.23.2215.
  • Schulz R, Sherwood PR. Physical and mental health effects of family caregiving. Am J Nurs. 2008;108(9 Suppl):23–27; quiz 27. doi: 10.1097/01.NAJ.0000336406.45248.4c.
  • Bolge SC, Doan JF, Kannan H, et al. Association of insomnia with quality of life, work productivity, and activity impairment. Qual Life Res. 2009;18(4):415–422. doi: 10.1007/s11136-009-9462-6.
  • DiBonaventura MD, Wagner JS, Yuan Y, et al. Humanistic and economic impacts of hepatitis C infection in the United States. J Med Econ. 2010;13(4):709–718. doi: 10.3111/13696998.2010.535576.
  • Finkelstein EA, Allaire BT, Dibonaventura MD, et al. Direct and indirect costs and potential cost savings of laparoscopic adjustable gastric banding among obese patients with diabetes. J Occup Environ Med. 2011;53(9):1025–1029. doi: 10.1097/JOM.0b013e318229aae4.
  • Charlson ME, Pompei P, Ales KL, et al. A new method of classifying prognostic comorbidity in longitudinal studies: development and validation. J Chronic Dis. 1987;40(5):373–383. doi: 10.1016/0021-9681(87)90171-8.
  • Kroenke K, Spitzer RL, Williams JBW. The PHQ-9: validity of a brief depression severity measure. J Gen Intern Med. 2001;16(9):606–613. doi: 10.1046/j.1525-1497.2001.016009606.x.
  • Manea L, Gilbody S, McMillan D. Optimal cut-off score for diagnosing depression with the patient health questionnaire (PHQ-9): a meta-analysis. CMAJ. 2012;184(3):E191–6. doi: 10.1503/cmaj.110829.
  • Spitzer RL, Kroenke K, Williams JBW, et al. A brief measure for assessing generalized anxiety disorder: the GAD-7. Arch Intern Med. 2006;166(10):1092–1097. doi: 10.1001/archinte.166.10.1092.
  • Herdman M, Gudex C, Lloyd A, et al. Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L). Qual Life Res. 2011;20(10):1727–1736. doi: 10.1007/s11136-011-9903-x.
  • Członkowska A, Tarnacka B, Möller JC, et al. Unified wilson’s disease rating scale - a proposal for the neurological scoring of Wilson’s disease patients. Neurol Neurochir Pol. 2007;41(1):1–12. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17330175.
  • Unni EJ, Olson JL, Farris KB. Medication adherence reasons scale (MAR-Scale). Curr Med Res Opin. 2014;30(2):211–221. doi: 10.1185/03007995.2013.851075.
  • Given CW, Given B, Stommel M, et al. The caregiver reaction assessment (CRA) for caregivers to persons with chronic physical and mental impairments. Res Nurs Health. 1992;15(4):271–283. doi: 10.1002/nur.4770150406.
  • Nijboer C, Triemstra M, Tempelaar R, et al. Measuring both negative and positive reactions to giving care to cancer patients: psychometric qualities of the caregiver reaction assessment (CRA). Soc Sci Med. 1999;48(9):1259–1269. doi: 10.1016/s0277-9536(98)00426-2.
  • Reilly MC, Tanner A, Meltzer EO. Work, classroom and activity impairment instruments. Clin. Drug Invest. 1996;11(5):278–288. doi: 10.2165/00044011-199611050-00004.
  • Reilly MC, Zbrozek AS, Dukes EM. The validity and reproducibility of a work productivity and activity impairment instrument. Pharmacoeconomics. 1993;4(5):353–365. doi: 10.2165/00019053-199304050-00006.
  • Rubin DB. Using propensity scores to help design observational studies: application to the tobacco litigation. Health Serv Outcomes Res Methodol. 2001;2(3/4):169–188. doi: 10.1023/A:1020363010465.
  • Frota NAF, Caramelli P, Barbosa ER. Cognitive impairment in Wilson’s disease. J Neuropsychiatry Clin Neurosci. 1992;4(3):349–350. doi: 10.1176/jnp.4.3.349
  • Leung M, Wu Lanzafame J, Medici V. Switching pharmacological treatment in Wilson disease: case report and recommendations. J Investig Med High Impact Case Rep. 2020;8:2324709619896876. doi: 10.1177/2324709619896876.
  • Teufel-Schäfer U, Forster C, Schaefer N. Low copper diet-A therapeutic option for Wilson disease? Children . 2022;9(8):1132. doi: 10.3390/children9081132.
  • Członkowska A, Tarnacka B, Litwin T, et al. Wilson’s disease - Cause of mortality in 164 patients during 1992–2003 observation period. J Neurol. 2005;252(6):698–703. doi: 10.1007/s00415-005-0720-4.
  • Xu J, Deng Q, Qin Q, et al. Sleep disorders in Wilson disease: a systematic review and meta-analysis. J Clin Sleep Med. 2020;16(2):219–230. doi: 10.5664/jcsm.8170.
  • Nevsimalova S, Buskova J, Bruha R, et al. Sleep disorders in Wilson’s disease. Eur J Neurol. 2011;18(1):184–190. doi: 10.1111/j.1468-1331.2010.03106.x.
  • Tribl GG, Trindade MC, Bittencourt T, et al. Wilson’s disease with and without rapid eye movement sleep behavior disorder compared to healthy matched controls. Sleep Med. 2016;17:179–185. doi: 10.1016/j.sleep.2015.09.003.
  • Komal Kumar R, Taly A, Nair KPS, et al. Quality of life in Wilson′s disease. Ann Indian Acad Neurol. 2008;11(1):37–40. doi: 10.4103/0972-2327.40224.
  • Carta MG, Mura G, Sorbello O, et al. Quality of life and psychiatric symptoms in Wilson’s disease: the relevance of bipolar disorders. Clin Pract Epidemiol Ment Health. 2012;8:102–109. doi: 10.2174/1745017901208010102.
  • Katon WJ. Epidemiology and treatment of depression in patients with chronic medical illness. Dialogues Clin Neurosci. 2011;13(1):7–23. doi: 10.31887/DCNS.2011.13.1/wkaton
  • Menon B, Nayar R, Kumar S, et al. Parkinson’s disease, depression, and quality-of-life. Indian. Dialogues Clin Neurosci. 2011;13(1):7–23. doi: 10.4103/0253-7176.155611.
  • Chu CH, Quan AML, McGilton KS. Depression and functional mobility decline in long term care home residents with dementia: a prospective cohort study. Can Geriatr J. 2021;24(4):325–331. doi: 10.5770/cgj.24.511.
  • Chevalier K, Rahli D, de Veyrac L, et al. Quality of life and depression in Wilson’s disease: a large prospective cross-sectional study. Orphanet J Rare Dis. 2023;18(1):168. doi: 10.1186/s13023-023-02777-4.
  • Martínez-Martín P, Forjaz MJ, Frades-Payo B, et al. Caregiver burden in Parkinson’s disease. Mov Disord. 2007;22(7):924–931; quiz 1060. doi: 10.1002/mds.21355.
  • Karakis I, Morton ML, Janocko NJ, et al. Caregiver burden in psychogenic non-epileptic seizures. Seizure. 2020;81:13–17. doi: 10.1016/j.seizure.2020.07.007.
  • Bayen E, Jourdan C, Ghout I, et al. Objective and subjective burden of informal caregivers 4 years after a severe traumatic brain injury: results from the Paris-TBI study. J Head Trauma Rehabil. 2016;31(5):E59–67. doi: 10.1097/HTR.0000000000000079.
  • Nemcikova M, Katreniakova Z, Nagyova I. Social support, positive caregiving experience, and caregiver burden in informal caregivers of older adults with dementia. Front Public Health. 2023;11:1104250. doi: 10.3389/fpubh.2023.1104250.
  • Edwards NE, Scheetz PS. Predictors of burden for caregivers of patients with Parkinson’s disease. J Neurosci Nurs. 2002;34(4):184–190. doi: 10.1097/01376517-200208000-00003.
  • Chiou CJ, Chang HY, Chen IP, et al. Social support and caregiving circumstances as predictors of caregiver burden in Taiwan. Arch Gerontol Geriatr. 2009;48(3):419–424. doi: 10.1016/j.archger.2008.04.001.
  • Skaff MM, Pearlin LI. Caregiving: role engulfment and the loss of self 1. Gerontologist. 1992;32(5):656–664. doi: 10.1093/geront/32.5.656.
  • Kim DJ. Relationships between caregiving stress, depression, and self-esteem in family caregivers of adults with a disability. Occup Ther Int. 2017;2017:1686143–1686149. doi: 10.1155/2017/1686143.
  • Frota NAF, Caramelli P, Barbosa ER. Cognitive impairment in Wilson’s disease. Dement Neuropsychol. 2009;3(1):16–21. doi: 10.1590/S1980-57642009DN30100004.
  • Litwin T, Dusek P, Szafrański T, et al. Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment. Ther Adv Psychopharmacol. 2018;8(7):199–211. doi: 10.1177/2045125318759461.
  • Gupta S, Goren A, Phillips AL, et al. Self-reported burden among caregivers of patients with multiple sclerosis. Int J MS Care. 2012;14(4):179–187. doi: 10.7224/1537-2073-14.4.179.
  • Gupta S, Isherwood G, Jones K, et al. Productivity loss and resource utilization, and associated indirect and direct costs in individuals providing care for adults with schizophrenia in the EU5. Clinicoecon Outcomes Res. 2015;7:593–602. doi: 10.2147/CEOR.S94334.
  • 2021 National Healthcare Quality and Disparities Report [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US); 2021. Report No.: 21(22)-0054-EF; [cited 2023 Aug 13]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK578529/.
  • The National Organization for Rare Disorders (NORD®). Rare Insights® Barriers to Rare Disease Diagnosis, Care and Treatment in the US: a 30-year comparative analysis [Internet]. 2020 [cited 2023 Aug 11]. Available from: https://rarediseases.org/wp-content/uploads/2022/10/NRD-2088-Barriers-30-Yr-Survey-Report_FNL-2.pdf.