FFI-001

Fatal Familial Insomnia (FFI)

Europe 52 years old male Italy Total Cost: 292

Patient Condition

The patient carries the PRNP gene D178N mutation (129M homozygous), with 3 cases of FFI in the family. Chief complaint: progressive insomnia for 6 months, accompanied by autonomic dysfunction (tachycardia, hypertension, hyperhidrosis), and ataxic gait.

Treatment Timeline

PhaseDetailsDate
Symptom control and sleep induction
Immunomodulation and symptomatic treatment
Long-term maintenance and palliative care

Treatment Outcome

beforeTST 48 minutes/24h, CASS score 12 points, MMSE 22 points, unable to walk independently
afterTST improved to 120 minutes/24 hours (under medication), autonomic symptoms were partially controlled, and survival was extended to 18 months
highlightThrough the management of a multidisciplinary palliative care team, the patient's painful symptoms were effectively alleviated and the quality of life in the end-stage was improved. The overall survival period reached 18 months.