Endocrine Abstracts

JOINT1392

Objective: Lipodystrophies (LD) are a heterogeneous and rare group of disorders characterised by a general or partial loss of subcutaneous adipose tissue with a contrasting ectopic accumulation. Obstructive Sleep Apnea Syndrome (OSAS), characterized by upper airway collapse, is primarily associated with obesity as its most prevalent risk factor. Specifically, increased fat deposition in the neck contributes significantly to the pathogenesis of OSAS. Despite the well-established link between fat distribution and OSAS, data on the prevalence of OSAS in patients with LD remain scarce. This study aims to address this gap by systematically assessing the prevalence of OSAS in LD patients and investigating its associated clinical and metabolic determinants.

Materials and Methods: This single-center, retrospective, descriptive study included 163 LD patients who were followed up at the Ege University Endocrinology outpatient clinic. Inclusion criteria encompassed being genetically confirmed, aged 18 years or older, non-pregnant, HIV-negative, and free from uncontrolled asthma, chronic obstructive pulmonary disease, or New York Heart Association class III-IV heart failure. Patients with a history of head and neck radiotherapy were excluded. Among the screened cohort, 28 LD patients who had undergone polysomnography were included in the study. Retrospective data on anthropometric measurements, fat distribution abnormalities, cervical skinfold thickness, biochemical parameters, and polysomnography findings were extracted from electronic medical records.

Results: Among patients included in the study, 28. 6% (n = 8) were diagnosed with generalized LD, and 71. 4% (n = 20) with partial LD. The mean age of the patients was 42±13 years. Male patients accounted for 21. 4% (n = 6), while females constituted 78. 6% (n = 22). The mean score of the Epworth Sleepiness Scale was 9. 2±6. 0 (range: 1–22). OSAS (AHI>15) was diagnosed in 11 patients (55%) with partial LD, whereas no cases were identified among those with generalized LD.

Discussion: This study provides novel insights into the prevalence of OSAS in patients with LD, highlighting a substantial difference between generalized and partial LD phenotypes. While OSAS is classically linked to obesity, our results suggest that abnormal fat distribution in LD may be an independent risk factor.

Conclusion: We demonstrated the high frequency of OSAS in patients with partial LD. Our findings underscore the necessity of OSAS screening in partial LD patients, particularly those with severe metabolic complications, given its association with cardiometabolic diseases, cognitive dysfunction, and increased mortality risk. The significant prevalence of OSAS in partial LD highlights the need for a paradigm shift in screening strategies.

Keywords Lipodystrophy, obstructive sleep apnea syndrome, polysomnography