Psychiatric Disorders in Fabry Disease: Investigating the Relationship Between Psychiatric Symptoms, Target Organ Involvement, and Lyso-Gb3 Levels Fabry Hastalığında Psikiyatrik Bozukluklar: Psikiyatrik Semptomlar, Hedef Organ Tutulumu ve Lyso-Gb3 Düzeyleri Arasındaki İlişkinin Belirlenmesi

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Ersoy M., Yılmaz S., Pişkinpaşa H., Çöllü A.

Medical Journal of Bakirkoy, cilt.22, sa.2, ss.156-163, 2026 (ESCI, Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 2
  • Basım Tarihi: 2026
  • Doi Numarası: 10.4274/bmj.galenos.2026.2025.10-1
  • Dergi Adı: Medical Journal of Bakirkoy
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, CINAHL, EMBASE, TR DİZİN (ULAKBİM), Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest), Pharma Collection (ProQuest)
  • Sayfa Sayıları: ss.156-163
  • Anahtar Kelimeler: Fabry disease, psychiatric disorders, enzyme replacement therapy, Lyso-Gb3
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

Objective: This study aims to evaluate the psychological issues experienced by individuals diagnosed with Fabry disease (FD) and examine whether these issues are associated with serum globotriaosylsphingosine (Lyso-Gb3) levels and target organ involvement. Methods: This study included 51 individuals: 22 FD patients (FD group) and 29 healthy controls (control group). The FD group comprised 18 adults and four pediatric patients, and both groups were matched for age and gender. The Symptom Checklist-90 (SCL-90) was administered to participants aged 15 years and older, while the Conners' Parent Rating Scale-Revised Long Form (CPRS-R/L) was used for pediatric patients. The FD group was also assessed for organ involvement and plasma Lyso-Gb3 levels. Results: Somatization was the most prevalent psychiatric symptom among adult FD patients (32%). Compared with the healthy control group, adult FD patients exhibited higher scores across multiple SCL-90 subscales, including somatization, depression, anxiety, interpersonal sensitivity, and anger-hostility. However, a statistically significant difference was only observed in the somatization subscale (p=0.042). All SCL-90 subscale scores were significantly correlated with involvement of the central nervous system (CNS) and the cardiovascular system (CVS). No significant correlation was found between SCL-90 subscale scores and Lyso-Gb3 levels (p>0.05). Among pediatric patients, CPRS-R/L scores were higher in the FD group than in controls, with a significant difference observed only in the oppositional subscale (p=0.04). Conclusion: Patients with FD exhibit a higher prevalence of psychiatric disorders than age- and sex-matched healthy controls. CNS and CVS involvement appears to be a significant risk factor for psychiatric comorbidities. No significant association was identified between serum Lyso-Gb3 concentrations and the presence of psychiatric disorders.