Physician's Quick Guide: Oshtoran Syndrome (H63D Syndrome Type-3) - A Rare but Life-Threatening Condition

Oshtoran Syndrome, also known as H63D Syndrome Type-3, is a rare, potentially life-threatening multisystem disease characterized by a homozygous mutation of the HFE gene H63D. This quick guide provides essential information for physicians who may unexpectedly encounter patients with this condition. Key features include the accumulation of toxic non-transferrin-bound iron (NTBI), severe autonomic dysfunction, and variable innate immune system impairment. Patients often appear healthier than their actual condition, which can be misleading. The syndrome cannot be detected by standard laboratory tests or imaging. Treatment is highly individualized and includes careful pharmacological management, iron monitoring, and supportive therapies. This guideline emphasizes the critical importance of maintaining established treatments, as any changes can have fatal consequences. It also highlights the dangers of common iron reduction therapies in these patients and the need for immediate, stress-free medical attention to prevent life-threatening complications.