Self-Reported Health Burden and Quality-of-Life–Related Concerns in Patients With Achondroplasia: A Survey From Türkiye
Clinical Endocrinology, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2026
- Doi Numarası: 10.1111/cen.70190
- Dergi Adı: Clinical Endocrinology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Gender Studies Database, MEDLINE, Academic Search Ultimate (EBSCO), Natural Science Collection (ProQuest), Biological Science Database (ProQuest), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
- Anahtar Kelimeler: achondroplasia, awareness, dwarfism, parents, quality of life
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Hayır
Özet
Objective: Achondroplasia is an autosomal dominant genetic disorder, characterised by distinctive growth patterns and recognisable skeletal features. This study aimed to determine the demographic and clinical characteristics, quality of life (QoL) losses, and expectations of individuals with achondroplasia in Türkiye. Design: In this survey-based study, Computer-Assisted Telephone Interviewing (CATI) system was used and questions were directed to patients or their parents via phone calls. Patients: A total of 140 patients with achondroplasia, of whom 50.7% were male (age range, 0–20 years) were included. Measurements: The questionnaire forms were prepared by a committee including clinicians and the president of the Achondroplasia and Families Association. The forms included questions on sociodemographic characteristics, diagnosis and treatment, expectations from the patient association, and quality of life. Results: Achondroplasia was commonly diagnosed by obstetricians (76.5%) and the patients were followed by multiple specialties. Of the patients, 10% received growth hormone treatment, and 55.7% underwent at least one surgical procedure, with 23.6% undergoing limb lengthening surgery. The main symptoms frequently/very frequently observed in the patients were: sleep-disordered breathing (40%), recurrent ear infections (32%), and frequent respiratory tract infections (28%). The primary concerns involved experiences of social exclusion due to physical appearance and together with related psychological challenges. The main expectations of the participants and parents from the association were to receive education on achondroplasia management and new treatment options, and to promote public awareness. Conclusions: Patients with achondroplasia face significant challenges in daily life, they require medical treatment and some supportive services to improve their quality of life.