Management and Treatment of Creutzfeldt-Jakob Disease
There is no effective treatment available for Creutzfeldt-Jakob disease; management is entirely supportive and palliative, focusing on symptom control and end-of-life care, as the disease is universally fatal with median survival of approximately 5 months from symptom onset. 1, 2, 3
Confirming the Diagnosis
Before initiating palliative care discussions, confirm the diagnosis using the following algorithm:
- CSF RT-QuIC assay is now the gold standard diagnostic test, with sensitivity of 94-96% and specificity of 99-100%, and a positive result alone is sufficient for probable sCJD diagnosis even without other classical criteria 4
- Brain MRI with DWI and FLAIR sequences should show T2 hyperintensity and diffusion restriction in cortical regions, caudate, and putamen (cortical ribboning pattern) 4, 5
- EEG may demonstrate periodic sharp wave complexes with 1:1 correlation to myoclonic jerks, though this is not present in all cases 4, 6
- CSF 14-3-3 protein and total tau elevation provide supportive evidence but are less specific than RT-QuIC 1, 4
Critical pitfall: RT-QuIC can occasionally be indeterminate or false-negative, particularly in atypical cases or very young patients; if clinical suspicion remains high with characteristic MRI findings, proceed with supportive care and consider autopsy for definitive diagnosis 7
Supportive Care Framework
Since no disease-modifying therapies exist, immediately transition to comprehensive palliative management:
- Initiate palliative care consultation within 24-48 hours of diagnosis to establish goals of care and anticipatory guidance for the rapid decline 5
- Provide family counseling regarding the universally fatal prognosis, typical disease course of 4-6 months, and progression to akinetic mutism 3, 5
- Prescribe anticipatory medications for symptom management as decline occurs 5
Symptom-Specific Management
Myoclonus Control
- Use clonazepam or valproic acid as first-line agents for myoclonic jerks that cause distress or interfere with care 6
- Avoid aggressive treatment of myoclonus that does not bother the patient, as sedation may worsen quality of life
Cognitive and Behavioral Symptoms
- Manage agitation with low-dose antipsychotics (quetiapine or risperidone) only when behavioral symptoms cause distress or safety concerns
- Avoid benzodiazepines for agitation as they worsen confusion and hasten progression to akinetic mutism 3
Motor Symptoms and Rigidity
- Physical therapy consultation for positioning, contracture prevention, and caregiver training as rigidity and hypertonia develop 3, 5
- Consider low-dose muscle relaxants (baclofen or tizanidine) if rigidity causes pain
End-Stage Care
- Anticipate progression to akinetic mutism within weeks to months, requiring decisions about artificial nutrition/hydration 3, 5
- Manage terminal complications including aspiration pneumonia, urinary tract infections, and pressure ulcers with comfort-focused interventions 3
- Most patients die from infection and comorbidities rather than the prion disease itself 3
Infection Control Precautions
Implement stringent precautions for all invasive procedures and tissue handling, as CJD is transmissible through contaminated instruments and tissues:
- Brain, spinal cord, and ocular tissues are highly infectious and require special handling, containment, or incineration 8
- All surgical instruments exposed to high-risk tissues require extended autoclaving (134°C for 18 minutes) or incineration, as standard sterilization does not eliminate prions 8
- Standard precautions are sufficient for routine care, as blood and most body fluids are not considered highly infectious 8
- The patient should never be considered as a tissue or organ donor for any purpose 8
Critical pitfall: Healthcare workers performing invasive procedures (neurosurgery, lumbar puncture, ophthalmologic procedures) must use enhanced precautions to prevent occupational transmission through contaminated sharps 8