A cross-sectional analysis of joint status and quality of life in children and adolescents with haemophilia in Romania

Summary

Background: Haemophilia is a congenital disorder of coagulation with high economic burden due to its requirement for an expensive, lifelong replacement therapy, with additional costs for the frequent complications and for the severe handicapping consequences. The objective of this cross-sectional study aimed at giving an insight into the health condition of young haemophiliacs in the absence of a regular prophylactic therapy. Methods: It was conducted on a heterogeneous group of 37 children and adolescents (4–24 years of age), with similar on demand therapeutic regimen, coming from the whole country, focusing on the joint status by using the Haemophila Joint Health Score (HJHS) system and on quality of life (QoL) by using the EQ-5D-3L-Y questionnaire. Results: The results revealed an impressive situation: 70.3 % with chronic arthropathy, 19 % with target joints, 69 % with multiple joint involvement, mainly elbow (41 %) and knee (34 %), joint damage starting in the age group 6–12 years (18.18 % arthropathy vs. 96 % in the age group above 12 years). Joint score (6.67 ± 7.92), gait score (0.75 ± 1.14) and HJHS (7.43 ± 8.78) were highly correlated (r = 0.7, p = 0.001) with the annualised bleeding rate ABR (16.2 ± 12.1). They impacted the QoL in all domains, also expressed by a VAS of 68.39 ± 21.6. Conclusion: We concluded that in the situation of an international consensus that prophylactic replacement can prevent cost-effectively and cost-efficiently the deleterious joint damages, our study is supporting the introduction even of secondary and tertiary prophylaxis in young patients in our country.

Zusammenfassung

Hintergrund: Hämophilie ist eine angeborene Gerinnungsstörung mit hoher ökonomischen Bedeutung, da sie eine teure und lebenslange Substitutionstherapie erfordert sowie zusätzliche Kosten für die häufigen Komplikationen und behindernden Spätfolgen verursacht. Ziel dieser Querschnittstudie war es, einen Einblick in den Gesundheitsstatus und die Lebensqualität von jungen Patienten mit Hämophilie ohne regelmäßige prophylaktischen Therapie zu erhalten. Methode: Die Studie wurde mit einer heterogenen Gruppe von 37 Kindern und Jugendlichen (4–24 Jahren) durchgeführt, die aus dem ganzen Land stammten. Ausgewertet wurden der Gelenk-status mittels HJHS (haemophilia joint health score) und die Lebensqualität mithilfe des EQ-5D-3L-Y Fragebogens. Ergebnisse: Die Er-gebnisse der Studie sind beeindruckend: 70,3 % der Patienten hatten eine chronische Arthropatie – 19 % mit Zielgelenken, 69 % mit mehrfacher Gelenkbeteiligung, insbeson-dere Ellbogen (41 %) und Knie (34 %). In der Altersgruppe 6–12 Jahren lag bereits bei 18,18 % eine Arthropatie vor (vs. 96 % in der Altersgruppe über 12 Jahren). Joint-Score (6.67 ± 7.92), Gait-Score (0.75 ± 1.14) und HJHS (7.43 ± 8.78) korrelierten stark mit der annualisierten Blutungsrate (16.2 ± 12.1; r = 0.7, p = 0.001). Dies beeinflusste die Lebensqualität deutlich, was sich auch an einem VAS von 68.39 ± 21.6 zeigte. Schlussfolgerung: Gemäß des bestehenden internationalen Konsensus für eine kosten-effektive und -effiziente Prävention von Gelenkschä-den durch eine prophylaktische Substitution, unterstützen unsere Studienergebnisse die Einführung einer – auch sekundären und tertiären – Prophylaxe bei jungen Patienten in Rumänien.

Keywords

Haemophilia - arthropathy - quality of life - children - adolescents

Schlüsselwörter

Hämophilie - Arthropathie - Lebensqualität - Kinder - Jugendliche

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