Fatal familial insomnia (FFI)
Patient Condition
The patient developed severe insomnia at the age of 45, which gradually developed into complete insomnia, accompanied by autonomic nervous dysfunction (tachycardia, hyperhidrosis, body temperature fluctuations). At the age of 47, fatal familial insomnia was diagnosed (FFI, PRNP D178N mutation, Met129 homozygous). At the time of diagnosis, complete insomnia lasted for 3 months, with an MMSE of 26 points, severe autonomic symptoms (blood pressure difference in supine and upright position> 40mmHg), and a significant decrease in heart rate variability. The expected survival period is 12 months.
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Symptom control and sleep induction | ||
| Immunomodulation and symptomatic treatment | ||
| Long-term maintenance and palliative care |
Treatment Outcome
| before | Complete insomnia 3 months, MMSE 26 points, severe autonomic nervous dysfunction, expected survival 12 months, PRNP D178N/Met129 homozygous mutation |
|---|---|
| after | Survival period was extended to 28 months (still under follow-up), MMSE was 18 points, drug-induced sleep could be maintained for 4-6 hours a day, nutritional status was good, and no serious complications occurred |
| highlight | Drug-induced sleep +IVIG immunomodulation extends the survival of patients with FFI by 130%, breaking expectations of rapid disease progression and providing new ideas for the treatment of prion diseases |