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Purpose <p>Patients 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).</p> Methods <p>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.</p> Results <p>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 (<i>p</i> &lt; 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.</p> Conclusion <p>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.</p>

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Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月25日

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  • Maartje Blom,
  • Annelotte J. Duintjer,
  • Mahnaz Jamee,
  • Melanie de Gier,
  • Markéta Bloomfield,
  • Adam Klocperk,
  • Pavlina Kralickova,
  • Neslihan E. Karaca,
  • Oksana Boyarchuk,
  • Peter Čižnár,
  • Miloš Jeseňák,
  • Svetlana Sharapova,
  • Ekaterina Skopovets,
  • Luis I. Gonzalez-Granado,
  • Serena Palmeri,
  • Stefano Volpi,
  • Andrea Martin Nalda,
  • Sonia Rodriguez Tello,
  • Pere Soler-Palacín,
  • Hassan Abolhassani,
  • Federica Pulvirenti,
  • Bianca Cinicola,
  • Uwe Wintergerst,
  • Godelieve J. de Bree,
  • J. Merlijn van den Berg,
  • Helen L. Leavis,
  • Clementien Vermont,
  • Virgil A.S.H. Dalm,
  • Koen van Aerde,
  • Stefanie Henriet,
  • Hetty Jolink,
  • Judith Potjewijd,
  • Arjan Lankester,
  • Chandoshi Rhea Mukherjee,
  • Dagmar Berghuis,
  • Małgorzata Pac,
  • Benjamin M.J. Shillitoe,
  • Andrew R. Gennery,
  • Mirjam van der Burg

摘要

Purpose

Patients 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).

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.