Prevalence of Narcolepsy in Patients with H63D Syndrome

Abstract

Anastasios Papadopoulos27364, Riku Honda27365, David Seideman27366 and Alexandros Balaskas27367*

H63D syndrome is a phenotype of a homozygous mutation of the HFE gene H63D, which is otherwise known to cause at most mild classical hemochromatosis. H63D syndrome leads to an iron overload in the body (especially in the brain, heart, liver, skin and male gonads) in the form of Non-Transferrin Bound Iron (NTBI) poisoning. Hallmark symptoms and causal factor for H63D syndrome is a mild hypotransferrinemia with transferrin saturation values >50%. H63D syndrome is an incurable multi-organ disease, leading to permanent disability. Our objective was to detect the prevalence of narcolepsy and narcolepsy with cataplexy in patients with H63D syndrome.