Oshtoran Syndrome (H63D Syndrome Type 3) - status report

Oshtoran Syndrome, also known as H63D syndrome type-3, is a multifactorial, meta-syndromic disorder characterized by a variety of clinical manifestations. These include irregular iron homeostasis, microinflammatory events, neuropsychiatric disorders, multi-organ pathologies and especially autonomic dysfunctions involving the central nervous system, the autonomic nervous system and the innate immune system. The disease is complex and requires a comprehensive, multidisciplinary approach to diagnosis and treatment. There is evidence that the homozygous mutation of the HFE gene H63D plays a role, similar to Wilson's disease, but with NTBI iron instead of copper as the causative agent. This mutation has been linked to a number of diseases, including liver disease, diabetes mellitus, katecholamine driven pseudo-diabetes, heart disease, neurodegenerative diseases, and many more symptoms.