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Quality of life of patients with alkaptonuria

https://doi.org/10.47360/1995-4484-2021-93-96

Abstract

The aim of the study was to study the quality of life of patients with alkaptonuria.

Material and methods. The study included 50 patients with a reliable diagnosis of alkaptonuria aged 18 to 78 years (mean age 58.2±10.8 years). Among them, men predominated (n=31; 62%), in most cases (98%) complaining of pain in the joints and/or spine. For the first time, the articular syndrome debuted at the age of 17 to 39 years (average age of debut – 29.4±4.76 years). The duration of clinical manifestations of the disease before diagnosis ranged from 7 to 47 years (mean 23.35±8.17 years). 74% of patients had a disability group. In the study cohort, the body mass index (BMI) was slightly higher than normal values and averaged 28.18±4.95 kg/m2. The quality of life of patients was assessed using the EuroQol-5D questionnaire (EQ-5D).

Results. The quality of life corresponding to a satisfactory state of health according to EQ-5D was observed in 56% of patients. Their quality-of-life index (LQI) values were more than 0.5. 22% of patients had 0<LQI≤0.5. In some cases, LQI≤0 was detected. In groups with 0<LQI≤0.5 and 0.5<LQI≤1.0, a slight predominance of men was revealed (54.5 and 57.1%, respectively). In the group with LQI<0, these differences were more pronounced, the proportion of men was 81.8% (p<0.01). When comparing the data of this group with the parameters of the most prosperous patients (0.5<LQI≤1.0), statistically significant differences were observed in mobility (p=0.018), personal care (p=0.018), performance of actions in everyday life (p=0.003), pain and discomfort (p=0.003). LQI of patients with alkaptonuria negatively correlated with age (r=–0.38; p<0.01) and the need to use crutches (r=–0.58; p<0.01). Endoprosthetics (at least one large joint) was performed in half (54%) of patients.

Conclusion. In adult patients with alkaptonuria, a significant deterioration in the quality of life was revealed, which is primarily due to damage to the spine and large joints with the need for endoprosthetics in half of the patients. LQI was extremely low, its median was 0.34 [0.02; 0.56] at a norm of 1. Along with traditional tools for assessing joint damage in patients with alkaptonuria, it seems appropriate to use the EQ-5D questionnaire, which reflects various parameters of the quality of life: from the ability to perform actions in everyday life to the severity of pain and depression, which allows screening to receive information about the functional capabilities of patients and develop individual tactics for the provision of medical care, including timely surgical treatment.

About the Authors

A. V. Kuzin
Russian Medical Academy of Continuous Professional Education of the Ministry of Healthcare of the Russian Federation; V.A. Nasonova Research Institute of Rheumatology
Russian Federation

Aleksander Kuzin

125993, Moscow, Barrikadnaya str., 2/1, building 1

115522, Moscow, Kashirskoye Highway, 34A

 


Competing Interests: нет


V. N. Amirdzhanova
V.A. Nasonova Research Institute of Rheumatology
Russian Federation

Vera N. Amirdzhanova

115522, Moscow, Kashirskoye Highway, 34A


Competing Interests: нет


E. M. Zaytseva
Russian Medical Academy of Continuous Professional Education of the Ministry of Healthcare of the Russian Federation
Russian Federation

Elena M. Zaytseva

125993, Moscow, Barrikadnaya str., 2/1, building 1


Competing Interests: нет


E. A. Dolzhenkova
Ryazan Regional Clinical Hospital
Russian Federation

Elena A. Dolzhenkova

390039, Ryazan, Internationalnaya str., 3A


Competing Interests: нет


References

1. Zatkova A. An update on molecular genetics of Alkaptonuria (AKU). J Inherit Metab Dis. 2011;34:1127−1136. doi: 10.1007/s10545-011-9363-z

2. Taylor AM, Wlodarski B, Prior IA, Wilson PJM, Jarvis JC, Ranganath LR, et al. Ultrastructural examination of tissue in a patient with alkaptonuric arthropathy reveals a distinct pattern of binding of ochronotic pigment. Rheumatology. 2010;49:1412−1414. doi: 10.1093/rheumatology/keq027

3. Phornphutkul C, Introne WJ, Perry MB, Berbardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. Engl J Med. 2002;347:2111−2221. doi: 10.1056/NEJMoa021736

4. Bashkova IB, Kichigin VA, Bezluidnaya NV, Stepanov EG, Kovaliov DV, Karpukhin AS, et al. Ochronosis: Difficulties of diagnosis in the practice of a clinician. Trudnyy patsiyent = Difficult Patient. 2016;10–11:40–45 (In Russ.).

5. Ozmanevra R, Güran O, Karatosun V, Günal I. Total knee arthroplasty in ochronosis: A case report and critical review of the literature. Eklem Hastalik Cerrahisi. 2013;24:169−172. doi: 10.5606/ehc.2013.36

6. The EuroQol group. EuroQol – a new facility for the measurement of health related quality of life. Health Policy. 1990;16:199−208. doi: 10.1016/0168-8510(90)90421-9

7. Brooks R, the EuroQol Group. EuroQol: The current state of play. Health Policy. 1996,37:53−72. doi: 10.1016/0168-8510(96)00822-6

8. Dolan P, Gudex C, Kind P, Williams A. A social tariff for EuroQol: Results from a UK general population survey. Discussion paper. York: University of York; 1995:138.

9. Torrance G, Thomas WH, Sackett DL. A utility maximization model for evaluation of health care programs. Health Serv Res. 1972;7:118−133.

10. Rabin R, de Charro F. EQ-5D: A measure of health status from the EuroQol Group. Ann Med. 2001;33(5):337−343. doi: 10.3109/07853890109002087

11. Amirdjanova VN, Erdes SF. Validation of general questionnaire EuroQol-5D (EQ-5D). Nauchno-prakticheskaya revmatologiya = Rheumatology Science and Practice. 2007;45(3):69−76 (In Russ.). doi: 10.14412/1995-4484-2007-691

12. Perry MB, Suwannarat P, Furst GP, Gahl WA, Gerber LH. Musculoskeletal findings and disability in alkaptonuria. J Rheumatol. 2006;33(11):2280−2285.

13. Cox TF, Psarelli EE, Taylor S, Shepherd HR, Robinson M, Barton G, et al. Subclinical ochronosis features in alkaptonuria: A cross-sectional study. BMJ Innovations. 2019;5(2-3):82−91. doi: 10.1136/bmjinnov-2018-000324

14. Rudebeck M, Scott C, Sireau N, Ranganath L. A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care. JIMD Reports. 2020;53:71−79. doi: 10.1002/jmd2.12101

15. Spiga O, Cicaloni V, Fiorini C, Trezza A, Visibelli A, Millucci L, et al. Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease. Orphanet J Rare Dis. 2020;15:46. doi: 10.1186/s13023-020-1305-0

16. Gallagher JA, Dillon JP, Sireau N, Timmis O, Ranganath LR. Alkaptonuria: An example of a fundamental disease – a rare disease with important lessons for more common disorders. Semin Cell Dev Biol. 2016;52:53−57. doi: 10.1016/j.sem-cdb.2016.02.020

17. Pathak SK, Kumar N, Bagtharia P. Alkaptonuria and multilevel intervertebral disc calcification. Joint Bone Spine. 2020;87(3):259. doi: 10.1016/j.jbspin.2020.01.004


Review

For citations:


Kuzin A.V., Amirdzhanova V.N., Zaytseva E.M., Dolzhenkova E.A. Quality of life of patients with alkaptonuria. Rheumatology Science and Practice. 2021;59(1):93-96. (In Russ.) https://doi.org/10.47360/1995-4484-2021-93-96

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ISSN 1995-4484 (Print)
ISSN 1995-4492 (Online)