2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Narcolepsy in Ehlers-Danlos syndrome

Pdf Summary

The document discusses the co-occurrence of narcolepsy and Ehlers-Danlos Syndrome (EDS). Narcolepsy is a chronic neurological disease characterized by disrupted sleep/wakefulness regulation. EDS is a group of genetic disorders affecting connective tissue. The study reviewed the records of 1,586 patients with EDS and found that 41 (2.59%) also had narcolepsy, with 12 of them having cataplexy. All patients were Caucasian, and the age at first diagnosis ranged from 8-42 years. Sleep apnea and ADHD/ADD were commonly reported comorbidities.<br /><br />The study performed genetic testing on the patients and found no pathogenic or likely pathogenic variants in known connective tissue disorder genes. This suggests that the comorbidity of narcolepsy and EDS may involve factors in the immune system. The prevalence of narcolepsy varies, with estimates ranging from 25-50 cases per 100,000 population in Europe and 14 per 100,000 for type 1 in the USA. The prevalence of narcolepsy in the EDS cohort studied was approximately 1 in 37, suggesting a higher frequency in this population.<br /><br />The document highlights the need for physicians, especially neurologists, to be aware of the potential co-occurrence of narcolepsy and EDS in patients. Early diagnosis and treatment of narcolepsy in EDS patients could improve patient outcomes. The study calls for further research to better understand the underlying mechanisms linking narcolepsy and EDS, particularly the role of the immune system. The findings have implications for genetic counseling and management regimens for patients with both narcolepsy and EDS.

Asset Subtitle

Co-Author - Jeff M. Milunsky, MD; Presenting Author - Jeff Milunsky, MD, FACMG;

Meta Tag

Bone/Joint Abnormalities

Brain/Nervous System

Clinical History

Musculoskeletal system

Phenotype

Co-Author Jeff M. Milunsky, MD

Presenting Author Jeff Milunsky, MD, FACMG

Keywords

narcolepsy

Ehlers-Danlos Syndrome

chronic neurological disease

disrupted sleep/wakefulness regulation

genetic disorders

connective tissue

cataplexy

Caucasian

sleep apnea

ADHD/ADD