Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis.
Blom M,Duintjer A,Jamee M,de Gier M,Bloomfield M,Klocperk A,Kralickova P,Karaca N,Boyarchuk O,Čižnár P,Jeseňák M,Sharapova S,Skopovets E,Gonzalez-Granado L,Palmeri S,Volpi S,Nalda A,Tello S,Soler-Palacín P,Abolhassani H,Pulvirenti F,Cinicola B,Wintergerst U,de Bree G,van den Berg J,Leavis H,Vermont C,Dalm V,van Aerde K,Henriet S,Jolink H,Potjewijd J,Lankester A,Mukherjee C,Berghuis D,Pac M,Shillitoe B,Gennery A,van der Burg M
Source :
2025 Aug 26
Pmid / DOI:
40853601
Abstract
PURPOSEPatients with (X-linked) agammaglobulinemia (XLA) suffer from severe, recurrent infections potentially leading to life-threatening complications such as sepsis, meningoencephalitis and chronic lung disease. Early diagnosis and timely treatment can prevent infections and secondary complications, emphasizing a role for early detection of XLA via newborn screening (NBS). Our international multicenter survey study aimed to evaluate self-reported outcomes and parental perspectives in XLA patients to determine whether an early diagnosis is associated with better quality of life (QoL).METHODSQoL-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.RESULTSIn 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