THE DIFFICULTIES IN MAKING A DIAGNOSIS OF CJD
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1 THE DIFFICULTIES IN MAKING A DIAGNOSIS OF CJD Richard Knight National CJD Surveillance Unit University of Edinburgh
2 TALK GENERAL INTRODUCTION WHAT TIME DOES IT TAKE TO DIAGNOSE SPORADIC CJD? COULD THIS TIME BE SHORTER? TWO ILLUSTRATIVE HISTORIES CONCLUSIONS
3 GENERAL INTRODUCTION
4 PRELIMINARY COMMENT 1 PERSPECTIVE
5 DIFFERENT PERSPECTIVES
6 DIFFERENT PERSPECTIVES
7 PRELIMINARY COMMENT 2 SETTING
8
9 PRELIMINARY COMMENT 3 DISEASE TYPE
10 Hans Creutzfeldt Alfons Jakob CJD
11 DIFFERENT FORMS OF CJD GENETIC CJD IATROGENIC CJD SPORADIC CJD VARIANT CJD
12 DIFFERENT FORMS: DIFFERING DIAGNOSTIC CONSIDERATIONS GENETIC CJD IATROGENIC CJD SPORADIC CJD VARIANT CJD
13 DIFFERENT FORMS: DIFFERING DIAGNOSTIC CONSIDERATIONS GENETIC CJD IATROGENIC CJD SPORADIC CJD scjd VARIANT CJD
14 3 ESSENTIAL PROBLEMS IN DIAGNOSIS RARE DISEASE NO SIMPLE, NON-INVASIVE, CLINICAL TEST DISEASE: UNTREATABLE & FATAL
15 3 ESSENTIAL PROBLEMS IN DIAGNOSIS RARE DISEASE NO SIMPLE, NON-INVASIVE, CLINICAL TEST DISEASE: UNTREATABLE & FATAL
16 3 ESSENTIAL PROBLEMS IN DIAGNOSIS RARE DISEASE NO SIMPLE, NON-INVASIVE, CLINICAL TEST DISEASE: UNTREATABLE & FATAL
17 THE ESSENTIAL PROBLEMS IN DIAGNOSIS RARE DISEASE MOST DOCTORS HAVE LIMITED EXPERTISE THE DIAGNOSIS IS INHERENTLY UNLIKELY
18 THE ESSENTIAL PROBLEMS IN DIAGNOSIS RARE DISEASE MOST DOCTORS HAVE LIMITED EXPERTISE THE DIAGNOSIS IS INHERENTLY UNLIKELY
19 THE ESSENTIAL PROBLEMS IN DIAGNOSIS NO SIMPLE, NON-INVASIVE, CLINICAL TEST RELIANCE ON CLINICAL EVOLUTION OVER TIME INVASIVE TESTS CARRY RISKS
20 THE ESSENTIAL PROBLEMS IN DIAGNOSIS NO SIMPLE, NON-INVASIVE, CLINICAL TEST RELIANCE ON CLINICAL EVOLUTION OVER TIME INVASIVE TESTS CARRY RISKS
21 THE ESSENTIAL PROBLEMS IN DIAGNOSIS DISEASE: UNTREATABLE & FATAL WANT TO BE CERTAIN OF DIAGNOSIS BEFORE GIVING IT DESIRE TO GIVE PEOPLE TIME NOT USED UP BY TESTS
22 THE ESSENTIAL PROBLEMS IN DIAGNOSIS DISEASE: UNTREATABLE & FATAL WANT TO BE CERTAIN OF DIAGNOSIS BEFORE GIVING IT DESIRE TO GIVE PEOPLE TIME NOT USED UP BY TESTS
23 ANOTHER PROBLEM I DON T KNOW WHY IT WASN T DIAGNOSED EARLIER... WHEN I READ ABOUT THE DISEASE, THE SYMPTOMS WERE TYPICAL.
24 ANOTHER PROBLEM I DON T KNOW WHY IT WASN T DIAGNOSED EARLIER... WHEN I READ ABOUT THE DISEASE, THE SYMPTOMS WERE TYPICAL. BUT THIS IS A RETROSPECTIVE VIEWPOINT
25 PRESENTING SYMPTOMS MAY SUGGEST SEVERAL CAUSES 1 2 X
26 1 2 X
27 1 2 X
28 1 2 X
29 1 2 X TIME
30 TIME SYMPTOMS DIAGNOSIS
31 WHAT TIME DOES IT TAKE? SYMPTOMS DIAGNOSIS of scjd
32 DELAY COULD THIS TIME BE SHORTER? SYMPTOMS DIAGNOSIS of scjd
33 WHAT TIME DOES IT TAKE TO DIAGNOSE SPORADIC CJD?
34 TIME SYMPTOMS UK SPORADIC CJD MEDIAN TIME ONSET-DIAGNOSIS ~3-4 MONTHS DIAGNOSIS
35 WHY DOES IT TAKE THIS TIME? SYMPTOMS DIAGNOSIS
36 WHY DOES IT TAKE THIS TIME? SYMPTOMS DIAGNOSIS SOMETHING WRONG
37 WHY DOES IT TAKE THIS TIME? SYMPTOMS DIAGNOSIS GET MEDICAL ADVICE
38 WHY DOES IT TAKE THIS TIME? SYMPTOMS DIAGNOSIS OUTCOME OF INITIAL MANAGEMENT
39 WHY DOES IT TAKE THIS TIME? SYMPTOMS DIAGNOSIS SEE SPECIALIST
40 WHY DOES IT TAKE THIS TIME? SYMPTOMS DIAGNOSIS RESULTS OF SPECIALIST TESTS
41 WHY DOES IT TAKE THIS TIME? SYMPTOMS DIAGNOSIS CJD POSSIBLE OR LIKELY
42 WHY DOES IT TAKE THIS TIME? SYMPTOMS DIAGNOSIS CONSULTATION WITH SURVEILLANCE SYSTEM
43 WHY DOES IT TAKE THIS TIME? SYMPTOMS DIAGNOSIS FINAL CLINICAL DIAGNOSIS
44 TIME SYMPTOMS UK SPORADIC CJD MEDIAN TIME ONSET-DIAGNOSIS ~3-4 MONTHS DIAGNOSIS
45 COULD THIS TIME BE SHORTER?
46 SYMPTOMS DIAGNOSIS SOMETHING WRONG GET MEDICAL ADVICE SYMPTOMS MAY BE NON-SPECIFIC SYMPTOMS MAY HAVE POSSIBLE EXPLANATION SOME WAITING IS SENSIBLE & REASONABLE TIME VARIES FROM PATIENT TO PATIENT
47 SYMPTOMS DIAGNOSIS SOMETHING WRONG GET MEDICAL ADVICE SYMPTOMS MAY BE NON-SPECIFIC SYMPTOMS MAY HAVE POSSIBLE EXPLANATION SOME WAITING IS SENSIBLE & REASONABLE TIME VARIES FROM PATIENT TO PATIENT
48 SYMPTOMS DIAGNOSIS SOMETHING WRONG GET MEDICAL ADVICE SYMPTOMS MAY BE NON-SPECIFIC SYMPTOMS MAY HAVE POSSIBLE EXPLANATION SOME WAITING IS SENSIBLE & REASONABLE TIME VARIES FROM PATIENT TO PATIENT
49 SYMPTOMS DIAGNOSIS SOMETHING WRONG GET MEDICAL ADVICE SYMPTOMS MAY BE NON-SPECIFIC SYMPTOMS MAY HAVE POSSIBLE EXPLANATION SOME WAITING IS SENSIBLE & REASONABLE TIME VARIES FROM PATIENT TO PATIENT
50 SYMPTOMS DIAGNOSIS SOMETHING WRONG GET MEDICAL ADVICE MEDIAN TIME: 2 ¼ WEEKS [1 DAY-SEVERAL MONTHS] UK SPORADIC CJD 2006
51 SYMPTOMS DIAGNOSIS SOMETHING WRONG GET MEDICAL ADVICE SEE SPECIALIST MEDIAN TIME: 6-8 WEEKS [1 DAY-SEVERAL MONTHS] UK SPORADIC CJD 2006
52 SYMPTOMS DIAGNOSIS SOMETHING WRONG GET MEDICAL ADVICE SEE SPECIALIST CJD POSSIBLE OR LIKELY MEDIAN TIME: 8-12 WEEKS [FEW WEEKS SEVERAL MONTHS] UK SPORADIC CJD 2006
53 SYMPTOMS DIAGNOSIS SOMETHING WRONG GET MEDICAL ADVICE SEE SPECIALIST CJD POSSIBLE OR LIKELY REFERRAL TO NCJDSU MEDIAN TIME: WEEKS [FEW WEEKS SEVERAL MONTHS] UK SPORADIC CJD 2008
54 TIME SYMPTOMS UK SPORADIC CJD MEDIAN TIME ONSET-DIAGNOSIS ~3-4 MONTHS DIAGNOSIS
55 THIS TIME TO DIAGNOSIS IS NOT VERY DIFFERENT FROM THAT FOR MANY NEUROLOGICAL DISEASES WHY IS IT A PARTICULAR PROBLEM IN scjd?
56 THIS TIME TO DIAGNOSIS IS NOT VERY DIFFERENT FROM THAT FOR MANY NEUROLOGICAL DISEASES WHY IS IT A PARTICULAR PROBLEM IN scjd?
57 scjd IS TYPICALLY VERY RAPIDLY PROGRESSIVE
58 Percentage of cases DURATION OF ILLNESS IN scjd (n=1084, UK) <8 8- < < >24 Duration of illness in months
59 Percentage of cases DURATION OF ILLNESS IN scjd (n=1084, UK) <8 8- < < >24 Duration of illness in months
60 RATE OF PROGRESSION IN scjd RAPID: TYPICAL DIAGNOSTIC PROCESS TAKES TIME INCREASING & SEVERE DISABILITY & NO DIAGNOSIS DIAGNOSIS MAY BE ONLY SHORTLY BEFORE DEATH
61 SPORADIC CJD in the UK MEDIAN TIME IN MONTHS ONSET-DEATH ONSET-DIAGNOSIS
62 THERE IS NO SIMPLE, NON-INVASIVE, CLINICAL DIAGNOSTIC TEST
63 THERE IS NO SIMPLE, NON-INVASIVE, CLINICAL DIAGNOSTIC TEST THERE ARE TESTS THAT ARE HELPFUL IN SUPPORTING THE DIAGNOSIS
64 AIDS TO DIAGNOSIS FOR scjd EEG CSF PROTEIN TEST BRAIN MRI PASSAGE OF TIME
65 AIDS TO DIAGNOSIS FOR scjd EEG CSF PROTEIN TEST BRAIN MRI PASSAGE OF TIME
66 AIDS TO DIAGNOSIS FOR scjd EEG CSF PROTEIN TEST BRAIN MRI PASSAGE OF TIME
67 AIDS TO DIAGNOSIS FOR scjd EEG CSF PROTEIN TEST BRAIN MRI NONE OF THESE SHOW ABNORMALITIES UNIQUE TO scjd
68 OTHER DIAGNOSES POSSIBLE SOME OF WHICH ARE POTENTIALLY TREATABLE CERTAIN BLOOD TESTS MRI SCANS SPINAL FLUID EXAMINATIONS ALL TAKE TIME TO DO MAY TAKE TIME FOR RESULTS FATAL & UNTREATABLE ILLNESSES
69 AIDS TO DIAGNOSIS FOR scjd EEG CSF PROTEIN TEST BRAIN MRI PASSAGE OF TIME
70 VITAL FOR DIAGNOSIS OF/EXCLUSION OF OTHER DISEASES EEG CSF PROTEIN TEST BRAIN MRI PASSAGE OF TIME
71 Percentage of cases DURATION OF ILLNESS IN scjd (n=1084, UK) <8 8- < < >24 Duration of illness in months
72 RATE OF PROGRESSION IN scjd SLOWER: ATYPICAL OFTEN ATYPICAL CLINICAL FEATURES DIAGNOSTIC AIDS (EEG, CSF, MRI) MAY BE LESS HELPFUL RARE FORMS OF ALREADY RARE ILLNESS
73 SYMPTOMS DIAGNOSIS SOMETHING WRONG GET MEDICAL ADVICE SEE SPECIALIST CJD POSSIBLE OR LIKELY REFERRAL TO NCJDSU DIFFICULT TO SEE HOW COULD (OR SHOULD) TO REDUCE TIME HERE
74 SYMPTOMS DIAGNOSIS SOMETHING WRONG GET MEDICAL ADVICE SEE SPECIALIST CJD POSSIBLE OR LIKELY REFERRAL TO NCJDSU WHAT ABOUT HERE?
75 WHY SPECIALIST DIAGNOSIS TAKES TIME NON-SPECIFIC PRESENTATION RARE ILLNESS: INHERENTLY UNLIKEY RARE ILLNESS: UNFAMILIARITY WITH IT FATAL & UNTREATABLE: WANT TO BE CERTAIN NO SIMPLE DIAGNOSTIC TESTS FATAL & UNTREATABLE ILLNESSES
76 WHY SPECIALIST DIAGNOSIS TAKES TIME NON-SPECIFIC PRESENTATION RARE ILLNESS: INHERENTLY UNLIKEY RARE ILLNESS: UNFAMILIARITY WITH IT FATAL & UNTREATABLE: WANT TO BE CERTAIN NO SIMPLE DIAGNOSTIC TESTS FATAL & UNTREATABLE ILLNESSES
77 WHY SPECIALIST DIAGNOSIS TAKES TIME NON-SPECIFIC PRESENTATION RARE ILLNESS: INHERENTLY UNLIKEY RARE ILLNESS: UNFAMILIARITY WITH IT FATAL & UNTREATABLE: WANT TO BE CERTAIN NO SIMPLE DIAGNOSTIC TESTS FATAL & UNTREATABLE ILLNESSES
78 WHY SPECIALIST DIAGNOSIS TAKES TIME NON-SPECIFIC PRESENTATION RARE ILLNESS: INHERENTLY UNLIKEY RARE ILLNESS: UNFAMILIARITY WITH IT FATAL & UNTREATABLE: WANT TO BE CERTAIN NO SIMPLE DIAGNOSTIC TESTS FATAL & UNTREATABLE ILLNESSES
79 WHY SPECIALIST DIAGNOSIS TAKES TIME NON-SPECIFIC PRESENTATION RARE ILLNESS: INHERENTLY UNLIKEY RARE ILLNESS: UNFAMILIARITY WITH IT FATAL & UNTREATABLE: WANT TO BE CERTAIN NO SIMPLE DIAGNOSTIC TESTS FATAL & UNTREATABLE ILLNESSES
80 WHY SPECIALIST DIAGNOSIS TAKES TIME NON-SPECIFIC PRESENTATION RARE ILLNESS: INHERENTLY UNLIKEY RARE ILLNESS: UNFAMILIARITY WITH IT FATAL & UNTREATABLE: WANT TO BE CERTAIN NO SIMPLE DIAGNOSTIC TESTS FATAL & UNTREATABLE ILLNESSES
81 AWARENESS OF DISEASE IN THE UK (& ELSEWHERE) BSE & VARIANT CJD HAVE INCREASED AWARENESS OF CJD IN GENERAL
82 WHAT DO UK NATIONAL SURVEILLANCE DATA TELL US ABOUT SPECIALIST DIAGNOSIS?
83 REFERRALS TO NCJDRSU: SUSPECTED CASES [NOT ALL TURN OUT TO HAVE CJD]
84 NUMBER OF REFERRALS TO THE UK NCJDSU
85 NUMBER OF REFERRALS TO THE UK NCJDSU
86 NUMBER OF REFERRALS TO THE UK NCJDSU
87 NUMBER OF REFERRALS TO THE UK NCJDSU
88 SPORADIC CJD CASES ACTUAL CONFIRMED CASES
89 UK NCJDSU: NUMBER OF scjd CASES* *DEFINITE & PROBABLE
90 REFERRAL (SUSPECT) RATES VARIED & FELL INCREASING NUMBER OF CONFIRMED CASES WHAT DOES THIS TELL US?
91 NUMBER OF REFERRALS TO THE NCJDSU & UK scjd CASES Number of Referrals Number of scjd cases
92 NUMBER OF REFERRALS TO THE NCJDSU & UK scjd CASES Number of Referrals Number of scjd cases
93 NUMBER OF REFERRALS TO THE NCJDSU & UK scjd CASES BETTER RECOGNITION OF CJD CASES BY NEUROLOGISTS REDUCTION IN REFERRAL OF NON-CASES
94 UK CLINICIANS HAVE IMPROVED IN DIAGNOSIS OF SPORADIC CJD AWARENESS EDUCATION DIAGNOSTIC TESTS* *CSF and BRAIN MRI
95 SPORADIC CJD in the UK ONSET-NOTIFICATION MEDIAN TIMES IN MONTHS
96 SPORADIC CJD in the UK ONSET-NOTIFICATION MEDIAN TIMES IN MONTHS
97 SPORADIC CJD in the UK ONSET-NOTIFICATION MEDIAN TIMES IN MONTHS
98 SPORADIC CJD in the UK ONSET-NOTIFICATION MEDIAN TIMES IN MONTHS
99 UK CLINICIANS HAVE IMPROVED IN DIAGNOSIS OF SPORADIC CJD BUT NOT IMPACTED GREATLY ON TIME TO NOTIFICATION
100 UK CLINICIANS HAVE IMPROVED IN DIAGNOSIS OF SPORADIC CJD BUT NOT IMPACTED GREATLY ON TIME TO NOTIFICATION AND IN TIME TO DIAGNOSIS
101 SOME FURTHER INDIRECT EVIDENCE THAT THE DIAGNOSIS OF SPORADIC CJD IS DIFFICULT FATAL & UNTREATABLE ILLNESSES
102 SUSPECTED scjd REFERRALS SEEN BY NCJDSU in 2008 NUMBER DEFINITE or PROBABLE AT TIME SEEN BY NCDSU STAFF TOTAL: 85 STILL? NOT CJD ~55% scjd
103 SUSPECTED scjd REFERRALS SEEN BY NCJDSU in 2008 NUMBER DEFINITE or PROBABLE AT TIME SEEN BY NCDSU STAFF TOTAL: 85 STILL? NOT CJD ~55% scjd NCJDSU STAFF VERY EXPERIENCED IN CJD STILL UNCERTAIN IN NEARLY 1/4
104 SUSPECTED scjd REFERRALS SEEN BY NCJDSU in 2008 NUMBER DEFINITE or PROBABLE AT TIME SEEN BY NCDSU STAFF 68% FINALLY DEFINITE or PROBABLE scjd 13/19 CASES STILL UNCERTAIN AT TIME NCJDSU VISITED WERE IN FACT scjd
105 SUSPECTED scjd REFERRALS TO NCJDSU in 2008 FINAL OUTCOME TOTAL: 135 * DEF or PROB ~33% ~64%* REFERRED SUSPECTS TO NATIONAL SURVEILLANCE ~1/3 TURN OUT NOT TO BE CJD OF ANY KIND
106 OTHER DIAGNOSES POSSIBLE (SOME POTENTIALLY TREATABLE) PASSAGE OF TIME AS DIAGNOSTIC TEST ITSELF FATAL & UNTREATABLE ILLNESSES
107 TWO ILLUSTRATIVE HISTORIES
108 83 yr old Man (Definite scjd) 1 st seeking advice Referred neurologist Seen by neurologist Admitted to hospital Brain MRI Notified NCJDSU Seen NCJDSU Died 3 weeks 4 weeks 5 weeks 6 weeks 6 ½ weeks 8 weeks 9 weeks 11 weeks
109 Male 83 (Definite scjd) CJD first suggested 1 st seeking advice Referred neurologist Seen by neurologist Admitted to hospital Brain MRI Notified NCJDSU Seen NCJDSU Died 3 weeks 4 weeks 5 weeks 6 weeks 6 ½ weeks 8 weeks 9 weeks 11 weeks
110 67 yr old Female (Definite scjd) 1 st saw a doctor Hospital admission Referred neurologist Seen by neurologist Notified to NCJDSU Seen by NCJDSU Died 8 weeks 14 weeks 14 weeks 15 weeks 16 weeks 16 weeks 20 weeks
111 67 yr old Female (Definite scjd) 1 st saw a doctor Hospital admission Referred neurologist Seen by neurologist Notified to NCJDSU Seen by NCJDSU Died 8 weeks 14 weeks 14 weeks 15 weeks 16 weeks 16 weeks 20 weeks Very non-specific early symptoms No cognitive problems until 12 weeks
112 67 yr old Female (Definite scjd) CJD first suspected 1 st saw a doctor Hospital admission Referred neurologist Seen by neurologist Notified to NCJDSU Seen by NCJDSU Died 8 weeks 14 weeks 14 weeks 15 weeks 16 weeks 16 weeks 20 weeks
113 CONCLUSIONS
114 CLINICAL DIAGNOSIS IS DIFFICULT NON-SPECIFIC PRESENTATION OTHER DISEASES NEED TO BE EXCLUDED NO SIMPLE DIAGNOSTIC TEST PASSAGE OF TIME MAY BE IMPORTANT
115 SPORADIC CJD in the UK MEDIAN TIME IN MONTHS ONSET-DEATH ONSET-DIAGNOSIS
116 COULD THIS TIME BE SHORTER? SYMPTOMS DIAGNOSIS
117 COULD THIS TIME BE SHORTER? SYMPTOMS DIAGNOSIS PROBABLY NOT AS THINGS STAND SIMPLE DIAGNOSTIC TEST WOULD HELP
118 COULD THIS TIME BE SHORTER? SYMPTOMS DIAGNOSIS PROBABLY NOT AS THINGS STAND SIMPLE DIAGNOSTIC TEST WOULD HELP
119 DIAGNOSIS TAKES TIME UNCERTAINTY
120 DIAGNOSIS TAKES TIME UNCERTAINTY AFFECTS PATIENT FAMILY & FRIENDS CLINICAL STAFF
121 DIAGNOSIS TAKES TIME UNCERTAINTY AFFECTS PATIENT FAMILY & FRIENDS CLINICAL STAFF
122 STAFF OF THE NCJDSU REFERRING DOCTORS PATIENTS & THEIR FAMILIES
123
124 STAFF OF THE NCJDSU REFERRING DOCTORS PATIENTS & THEIR FAMILIES
125 STAFF OF THE NCJDSU REFERRING DOCTORS PATIENTS & THEIR FAMILIES
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