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Prevalence of narcolepsy in patients with H63D syndrome
  • +2
  • Dr. Carolina Diamandis,
  • Anastasios Papadopoulos,
  • Riku Honda,
  • Alexandros Balaskas,
  • Seideman David
Dr. Carolina Diamandis
Author Profile
Anastasios Papadopoulos
International H63D Consortium
Riku Honda
International H63D Consortium
Alexandros Balaskas
LCG Research
Seideman David
LCG Research

Abstract

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.