Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis.
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Blom Maartje, Duintjer Annelotte J, Jamee Mahnaz, de Gier Melanie, Bloomfield Markéta, Klocperk Adam, Kralickova Pavlina, Karaca Neslihan E, Boyarchuk Oksana, Čižnár Peter, Jeseňák Miloš, Sharapova Svetlana, Skopovets Ekaterina, Gonzalez-Granado Luis I, Palmeri Serena, Volpi Stefano, Nalda Andrea Martin, Tello Sonia Rodriguez, Soler-Palacín Pere, Abolhassani Hassan, Pulvirenti Federica, Cinicola Bianca, Wintergerst Uwe, de Bree Godelieve J, van den Berg J Merlijn, Leavis Helen L, Vermont Clementien, Dalm Virgil A S H, van Aerde Koen, Henriet Stefanie, Jolink Hetty, Potjewijd Judith, Lankester Arjan, Mukherjee Chandoshi Rhea, Berghuis Dagmar, Pac Małgorzata, Shillitoe Benjamin M J, Gennery Andrew R, van der Burg Mirjam
Аннотация
METHODS: QoL-questionnaires included the PedsQL for children and SF-36, CVID_QOL, PADQOL-16 for adults. A new questionnaire was specifically developed for parents about an early diagnosis of XLA.
RESULTS: In total, 88 adult and 65 pediatric XLA patients, and 69 parents from 14 countries completed the survey. Patients with an early diagnosis reported less severe, recurrent infections and less hospitalization (p < 0.05). QoL was significantly lower in multiple health domains for pediatric and adult patients with a late diagnosis compared to the general population. Patients with an early diagnosis reported similar QoL outcomes compared to the general population. Parents showed immense support for NBS for XLA stating that an early diagnosis prevents emotional insecurity, health damage, unnecessary diagnostics and allows early access to medical care and informed family planning.
CONCLUSION: Our study has shown supportive evidence to pursue an early diagnosis of XLA from both a self-reported clinical, health related QoL and parental perspective. The main plea from patients and parents is to achieve an early diagnosis for XLA and severe B-lymphocyte deficiencies with NBS.