Cc cjdf gr 2012 8-13
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Creutzfeldt-Jakob Disease (CJD) is a rare and fatal brain disorder. The document discusses diagnosing and managing CJD, providing strategies for each stage of the disease. It outlines the diagnostic criteria for probable CJD and describes imaging and biomarker tests. Managing patients involves educating family, assessing symptoms, limiting exposure, and providing hospice care. The CJD Foundation and specialized centers provide resources and support for patients and caregivers.
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Prion disease: A Rare Phenomena
This document discusses prion diseases like Creutzfeldt-Jakob disease (CJD). It covers diagnosing CJD using tools like EEG, MRI, and spinal fluid tests. It also discusses managing patient care which involves symptom treatment, limiting overstimulation, and hospice support. The risks of CJD transmission are also addressed, noting standard precautions are usually sufficient. Future research aims to improve diagnosis and develop treatments for prion diseases.
Creutzfeld-Jakob Disease: Diagnosis and Management of Prion Diseases
I. Dr. Brian Appleby discusses diagnosing and managing Creutzfeldt-Jakob disease (CJD), including using EEG, MRI, CSF tests and brain biopsy for diagnosis. Symptomatic treatments aim to improve quality of life.
II. Risk of CJD transmission in clinical settings is low with standard precautions. Care involves managing symptoms, supporting patients and caregivers, and facilitating end-of-life planning.
III. Current research includes studies of bioassays, diagnostic factors, and treatments like art therapy, with the goal of better understanding and caring for those with prion diseases.
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This document summarizes research on prion diseases like Creutzfeldt-Jakob disease (CJD). It discusses the causes of prion diseases including genetic mutations and spontaneous misfolding. The document outlines the clinical diagnosis and tests used to diagnose CJD. It also describes recent investigational treatments for CJD like quinacrine, pentosan polysulfate, and doxycycline. Finally, it provides an overview of resources for patients and their families dealing with prion diseases.
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Rapidly progressive dementia can be caused by many conditions, not just prion diseases. Prion diseases should not be the default diagnosis, as there are treatable and reversible causes that could be missed. While diagnostic tests like CSF 14-3-3, EEG, and brain MRI findings can support a prion disease diagnosis, they are not specific and can be present in other non-prion conditions as well. A thorough evaluation is needed to avoid misdiagnosis, and symptomatic treatment should still be considered even for prion diseases.
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This article discusses Creutzfeldt-Jakob disease (CJD), a rare and fatal neurological disorder caused by misfolded prion proteins in the brain. It describes the clinical presentation of CJD, which includes rapidly progressive dementia, personality changes, involuntary movements, and death usually within 6 months of symptom onset. The article outlines different types of CJD, discusses the pathogenesis involving prion transmission and brain degeneration, and summarizes diagnostic studies and management approaches, which are largely supportive since there is no cure. Nursing care focuses on preventing injury, promoting comfort, and providing psychological support to patients and families.
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Creutzfeld-Jakob Disease: Diagnosis and Management of Prion Diseases
Creutzfeld-Jakob Disease: Diagnosis and Management of Prion Diseases
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Cc cjdf gr 2012 8-13
- 1. Creutzfeldt-Jakob Disease Diagnosis & Management August 13, 2012 Florence Kranitz, President, CJD Foundation Brian Appleby, M.D., Staff, Lou Ruvo Center for Brain Health Pierluigi Gambetti, M.D., Director, NPDPSC, Case Western
- 2. NO RELEVANT FINANCIAL DISCLOSURES
- 3. Objectives I. Understand key elements of diagnosing CJD II. Demonstrate strategies for managing patients with CJD III. Demonstrate knowledge regarding the resources of the CJD Foundation & NPDPSC
- 4. “Pri-on” • proteinaceous and infectious • -ion (infectious, e.g. virion) • No nucleic acid • Non-degradable by typical sterilization
- 5. Soto C, Trends Biochem Sci 2006
- 7. Age at Onset sCJD gCJD vCJD Adapted from: Appleby BS, J Neuropsychiatry Clin Neurosci 2007
- 8. Epidemiology sCJD=1/1,000,000 people per year 1/10,000 deaths per year
- 9. Survival Time Adapted from: Appleby BS, Arch Neurol 2009
- 10. Definitive Diagnosis H&E Immunohistochemistry
- 11. Probable sCJD At least two clinical signs: 1.Dementia 2.Cerebellar or visual symptoms 3.Pyramidal or extrapyramidal symptoms 4.Akinetic mutism At least one of the following: 1.PSWC on EEG 2.14-3-3 in CSF and disease duration < 2 years 3.High signal abnormalities in basal ganglia or at least two cortical regions (temporal, parietal, or occipital) on DWI/FLAIR brain MRI Zerr I, et al. Brain 2009
- 12. Electroencephalogram (EEG) Periodic sharp wave complexes (PSWC’s)
- 13. MRI (DWI/FLAIR)
- 15. Iatrogenic CJD Adapted from: Brown P, Neurology 2006
- 16. Variant CJD 227 total cases http://www.cjd.ed.ac.uk/vcjdworld.htm
- 17. vCJD Characteristics Will RG, Lancet 1996
- 18. Pulvinar Sign Zeidler M, Lancet 2000
- 19. MM MV BSE 1980’s Creutzfeldt-Jakob Disease in the UK, 18th Annual Report, 2009
- 20. Care and Management Education Communication Implementation
- 21. Intervals of Care I. Pre-clinical/Presentation Phase II. Diagnostic Phase III. Caring Phase
- 22. Preclinical/Presentation Phase • Initial interactions with primary medical doctor • At risk individuals should identify “physician champions” Kranitz FJ & Simpson DM. CNS Neurol Disord Drug Targets 2009
- 23. Diagnosis Phase • Discuss process with patient and family • Don’t forget about present needs • Refer to organizations and clinicians familiar with the illness • Discharge planning (before discharge) • Must establish a “key worker” Douglas M, Patients with nvCJD and their families 1999
- 24. Caring Phase • Frequent reassessment/symptomatic treatment • Limit visits to few individuals of short durations • Assess caregiver requirements • Hospice/Respite care
- 25. Symptomatic Treatment Symptom Suggested Treatment Psychosis/Agitation Low potency neuroleptics (e.g., quetiapine) Myoclonus/Hyperstartle Long acting benzodiazepines (e.g., diazepam) Anticonvulsants (e.g., valproic acid) Seizures Anticonvulsants Dystonia/Contractures Passive movement Long acting benzodiazepines, Botulinum toxin injections Constipation Bowel regimen (e.g., dulcolax) Dysphagia/Rumination Thickener, cueing Behavioral/Environmental changes first Start low and go slow Re-evaluate frequently
- 26. Afterwards • Arrange requested post-mortems prior to death (www.cjdsurveillance.com) • Frequent check-ins with family/caregivers • If postmortem performed, communicate results (in person if possible) • Encourage contact as needed
- 27. Summary • Diagnosing CJD can be difficult and frustrating • Getting a proper diagnosis and managing the care of a patient with CJD is stressful • Care and management of patients with prion disease is supportive and entails several disease specific interventions