1. Adults with selective IgA deficiency - Health-related quality of life (HRQL) -Risk factors for poor HRQL ESID-INGID-IPOPI Meeting 2012 Ann Gardulf

2. HRQL in selective IgA deficiency Dept of Medicine, University of Iceland, Dept of Immunology, Landspitali-University Hospital, Reykjavík, Iceland and Dept of Laboratory Medicine, Section of Clinical Immunology, Karolinska Institutet, Huddinge, Stockholm, Sweden Guðmundur Jorgensen Ann Gardulf Sigurdsson M. I., Sigurðardóttir S., Thorsteinsdottir I., Gudmundsson S., Hammarström L. and Ludviksson B.R.

3. HRQL in selective IgA deficiency Selective IgA deficiency (SIgAD) is the most common primary immunodeficiency Definition: serum IgA <0.07 g/L Estimated prevalence: 1/600

4. HRQL in selective IgA deficiency Selective IgA deficiency (SIgAD) is the most common primary immunodeficiency Definition: serum IgA <0.07 g/L Estimated prevalence: 1/600 Nordic countries 41,000 individuals USA 511,000 individuals EU835,000 individuals

5. HRQL in selective IgA deficiency More infections, autoimmune disorders, allergic diseases

6. SIgAD  32 individuals - 13 women, 19 men; mean age 48 years. Detected when screening blood donors and blood samples analysed at the University Hospital of Iceland. The blood from the 32 individuals was reanalysed to confirm inclusion criteria of S- IgA level <0.07g/L and no IgG subclass deficiency.  Not under care, not informed HRQL in selective IgA deficiency

7. SIgAD  32 individuals - 13 women, 19 men; mean age 48 years. Detected when screening blood donors and blood samples analysed at the University Hospital of Iceland. The blood from the 32 individuals was reanalysed to confirm inclusion criteria of S- IgA level <0.07g/L and no IgG subclass deficiency.  Not under care, not informed Controls  63 controls - 29 women, 34 men; mean age 50 years. A total of 96 age- and gender- matched controls were randomly selected from the Icelandic National Registry (1 SIgAD: 3 control individuals). 63 (66%) participated. All controls showed normal Ig levels. HRQL in selective IgA deficiency

8. HRQL in selective IgA deficiency No exclusion criteria for the individuals in the control group were set up - thus, the controls might suffer from other chronic diseases/conditions and thereby better reflect the ordinary population.

9. HRQL in selective IgA deficiency No exclusion criteria for the individuals in the control group were set up - thus, the controls might suffer from other chronic diseases/conditions and thereby better reflect the ordinary population. Unique study – first time in PID research history that individuals with PID are compared to matched controls.

10. HRQL+CS HRQL HRQL HRQL in selective IgA deficiency Methods for HRQL and clinical status - Health and disease questionnaire (122 items) HRQL+CS - SF-36 HRQL (36 items)HRQL - Infection-HRQL questionnaire (9 items)HRQL - Standardized interview by MD - Extensive physical examination - Lung function tests - Laboratory assessments - Skin prick tests

11. HRQL in selective IgA deficiency Results clinical status – baseline (SIgAD vs controls) We found that the SIgAD individuals significantly more often suffered from: - upper- and lower respiratory tract infections - autoimmune diseases - allergies - skin and nail-fungal infections ESID Poster, 2012

12. HRQL in selective IgA deficiency Remember the 30/70% slide? ESID Poster, 2012

13. HRQL in selective IgA deficiency Remember the 30/70% slide? Total disease burden when compared to controls ESID Poster, 2012

14. HRQL in selective IgA deficiency Remember the 30/70% slide? Total disease burden when compared to controls ESID Poster, 2012

15. HRQL in selective IgA deficiency Methods – 3 questionnaires for HRQL SIgAD:Baseline6 months12 months Controls:Baseline

16. HRQL in selective IgA deficiency Results HRQL – baseline (SIgAD vs controls) SF-36 results indicated poorer HRQL although not reaching statistical significances for the subscales (statistical power?) Significantly increased fear of getting infected (p<0.01) Correlation between fear of getting infection and physical health (p<0.01) Significantly more SIgAD on long-term sick leave (p<0.05)

17. Baseline Poor HRQL 12 months follow-up 6 months follow-up Good HRQL HRQL in selective IgA deficiency Results – over time SIgAD

18. Baseline (dx) Poor HRQL 12 months follow-up 6 months follow-up Good HRQL Education Training Home-therapy HRQL in selective IgA deficiency Results – over time SIgAD Period of mixed feelings?

19. Risk factors for poor HRQL FactorsJörgensen et al., ongoing Age Gender Infections >4 organs Number of infections/number of antibiotic treatments last 12 months x S-IgG level Frequency of IVIG therapy Type of diagnose Home (instead of hospital) Joint/muscle/skeletalx No of any daily medicationx Allergic rhinoconjuctivitisx Anxiety/insomniax Specific occurrence of stress last 2-3 months Hospitalization last year Unemployment Smoking

20. Risk factors for poor HRQL FactorsJörgensen et al., ongoing Sigstad et al., 2005 Gardulf et al., 2008 Seeborg et al., ESID poster Agexx (at dx) Genderx Infections >4 organsx Number of infections/number of antibiotic treatments last 12 months xx S-IgG levelx Frequency of IVIG therapyx Type of diagnosex Home (instead of hospital)x Joint/muscle/skeletalxx No of any daily medicationx Allergic rhinoconjuctivitisx Anxiety/insomniax Specific occurrence of stress last 2-3 monthsx Hospitalization last yearx Unemploymentx Smokingx

21. HRQL in selective IgA deficiency “What’s in it for me as a nurse?” From a methodological point of view The study highlights the importance to use matched controls in PID clinical research to better detect unexpected clinical manifestations, e.g. fungal infections for further research, and differences in HRQL. Need to agree upon a basic “kit” of instruments/methods for international collaborations and comparisons between countries and patient groups.

22. HRQL in selective IgA deficiency “What’s in it for me as a nurse?” From a clinical point of view SIgA is very common Important to detect them as they have many health problems and are at risk for poor HRQL Nursing interventions possible to prevent a worsening HRQL and/or to treat health problems

23. HRQL in selective IgA deficiency “What’s in it for me as a nurse?” From a clinical point of view Aware of risk factors – more vulnerable subgroups? Decreased HRQL for a period after being told about the PID - important for the nurse to know and to adapt educational/training based on this knowledge

24. HRQL in selective IgA deficiency “What’s in it for me as a nurse?” From a clinical point of view Need for IgG therapy in some SIgAD individuals?

25. HRQL in selective IgA deficiency Thank you ! Heimir & Pjakkur Màni (Moon)