Fatal Familial Insomnia (FFI)
Patient Condition
PRNP gene D178N mutation carrier (129M/V heterozygous), mother died of FFI. Progressive insomnia for 4 months, accompanied by severe anxiety, weight loss of 12kg, and thermoregulatory disorders (paroxysmal hyperthermia).
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Symptom control and sleep induction | ||
| Immunomodulation and symptomatic treatment | ||
| Long-term maintenance and palliative care |
Treatment Outcome
| before | TST 72 minutes/24 hours, weight loss 12kg, frequent ventricular premature beats, MMSE 24 points |
|---|---|
| after | TST improved to 90 minutes/24 hours, ventricular premature beats reduced by 60%, weight stabilized, and anxiety symptoms were significantly relieved |
| highlight | Comprehensive symptomatic treatment effectively controlled cardiovascular complications and anxiety symptoms, and palliative treatment significantly improved the quality of life in the end stage, with a survival period of 16 months |