Psychological well-being in patients with aneurysms-osteoarthritis syndrome.

Lidia R Bons,Jolien W Roos‐Hesselink,Elisabeth M W J Utens,Denise Van Der Linde,Robert M Kauling,Ayda E Damirchi,Allard T Van Den Hoven,Silvy Dekker,Ingrid M B H Van De Laar,Ricardo P J Budde

doi:10.1002/ajmg.a.61209

Abstract

Aneurysms‐osteoarthritis syndrome (AOS) is characterized by arterial aneurysms and dissection in combination with early‐onset osteoarthritis, which can impact quality of life. We describe the subjective quality of life and investigate anxiety and depression in 28 AOS patients aged 15–73 years. Three questionnaires were used: 36‐Item Short Form Survey (SF‐36), hospital anxiety and depression scale (HADS) and Rotterdam disease specific questionnaire. Results of the SF‐36 and HADS were compared to a reference Dutch cohort and the SF‐36 questionnaire also to patients with Marfan syndrome. Compared to the general population, AOS patients scored significantly lower on the following SF‐36 domains: physical functioning, vitality, social functioning, bodily pain, and general health. Physical functioning was also lower than in Marfan patients. Patients with AOS scored higher on the HADS depression scale, while anxiety did not show a significant difference compared to the general population. No difference in SF‐36 and HADS domain scores were found between patient with and without orthopaedic symptoms and patients with or without previous aortic surgery. Additionally, we found that patients' worries for their future and heredity of their disease are important factors for anxiety, which should be addressed in clinical practice.

Highlights

| MATERIALS AND METHODSAll carriers of a pathogenic variant in the SMAD3 gene undergoing follow-up in our tertiary center per in-house protocol since January 2009 were invited for this study
Missing values for BMI (n = 2). aFive patients have a 50% chance of having Aneurysms-osteoarthritis syndrome (AOS), since they are not yet genetically tested. They are included because they showed significant aortic, cardiac or orthopaedic symptoms associated with AOS. bAortic diameters of the sinus of Valsalva and ascending aorta and prevalence of thoracic aortic aneurysm (>40 mm) are presented for patients who have not undergone aortic surgery. cThis patients showed moderate mitral valve regurgitation. dOrthopaedic abnormalities such as arthritis, arthrosis, osteochondritis dissecans, orthopaedic surgeries, osteosarcomas, instability of the joints, joint or muscle pain
The results of our study show that patients with AOS report a lower quality of life, mainly on the physical health subscales, and higher scores on the depression subscale compared to the general Dutch population

Summary

| MATERIALS AND METHODS

All carriers of a pathogenic variant in the SMAD3 gene undergoing follow-up in our tertiary center per in-house protocol since January 2009 were invited for this study. The SF-36 was used to determine patient-reported quality of life It covers the following eight domains: physical functioning, role limitations due to physical health, bodily pain, general health, mental health, role limitations due to mental health, vitality (energy or fatigue related), and social functioning. For the HADS and SF-36 questionnaires we compared our data to the reference values of the age-matched general Dutch population (Aaronson et al, 1998; Spinhoven et al, 1997). Because of the non-normally distribution of the values in the domains of the SF-36 and HADS questionnaires, the median and interquartile ranges are presented in table 1 and the p-value of the onesample Wilcoxon signed rank test was presented in the text and figures.

| RESULTS

Summary measuresa PCS

| DISCUSSION

Findings

| Limitations

| Conclusion