2/9/2017 Disclosures The Clinical Diagnosis of Epilepsy: Is it All in the History? Susannah Cornes, MD Associate Professor of Clinical Neurology University of California, San Francisco Antiepileptic drugs: The more things change… Making a clinical diagnosis of epilepsy • Epilepsy is defined as one • 5 year risk of additional or more unprovoked unprovoked seizures: seizures and >60% risk of 5 year seizure risk a er first unprovoked seizure recurrence. Brodie (2012): 26 1st seizure drugs, 68% effective • Risk of refractoriness varies 2nd seizure (risk by # seizures prior to 33%) treatment: 3rd seizure (risk – 51% (>20 seizures) 73%) – 29% (<20 seizures 4th seizure (risk 76%) Gowers (1881): 1 drug, 64% effective Kwan & Brodie (2000): 15 drugs, 63% effective Coatsworth (1971): 6 drugs, 62% effective Löscher et al Nat Rev Drug Disc (2013) Hauser et al. NEJM (1998) 3 Fisher et al. Epilepsia (2014) Löscher and Schmidt Epilepsia (2011) Kwan and Brodie NEJM (2000), Brodie et al Neurology (2012) Kwan and Brodie. NEJM (2000) 1
2/9/2017 Case 1: Is there a delay to diagnosis? 56yo RH M with history of episodes of a rising sensation from his stomach and a false presence presented to the ER w/ paresthesias, nausea and “weird neuro sx’s.” Diagnosed with gastroenteritis. “The smartest neurologist is • “…hears a familiar but 10/15 incomprehensible voice the last neurologist to see associated with a mental image of a vaguely familiar the patient.” 1/16 man…” -Bob Fishman • Almost like a memory. • Entirely stereotyped. • EEG normal. R hippocampal FLAIR hyperintensity resolves revealing asymmetric atrophy. Case 3: Case 2: 45 yo RH M s/p AVM rupture 9/11 presented with first 30yo RH M p/w first GTC 1/16 with R head turn. GTC 9/16 preceded by L visual change. History of History of “dizzy spells…really hard to describe,” but like episodes of “tuning into odd frequencies” or “digital a head rush and increased with lack of sleep. Believed sounds” and appearance of “steam rising” in L visual related to fatigue. No AEDs pending EEG and MRI. field every 1 – 3 months. Believed to be migraine. • Minor injuries following second GTC 4/16. • Further history reveals same feeling prior to both larger events. • EEG normal. Right temporal encephalomalacia. Right temporal slowing and breach. Left Mesial Temporal Sclerosis 2
2/9/2017 Hippocrates on Aura Galen on Aura “[The people who] are “…visited a 13 year-old boy. habituated to their disease The patient told them that have a presentiment when the condition originated in an attack is imminent, and the lower leg, and that ‘from run away from men, home, here it climbed upwards in a if their house be near, if not, straight line through the to the most deserted spot, thigh and further through where the fewest people will the flank and side to the see the fall, and immediately neck and as far as the head; hide their heads. This is the result of shame at their but as soon as it had touched malady, and not, as the the latter he was no longer many hold, of fear of the able to follow’…like a cold divine.” breeze.” -Temkin. The Falling Sickness: A History of Epilepsy from the Greeks to the Beginning of Modern Neurology Hippocrate. De la maladie sacree, livre 6. How far we’ve come? Pitfalls of Epilepsy Self-Diagnosis Pitfalls of Epilepsy Self-Diagnosis 3
2/9/2017 How far we’ve come? What is HEP? Re: Are auras actually seizures? Or are they just “warnings”? I know exactly what you are going through. I have had the intense Deja Vu feeling for 15 years and almost black out. Sometimes I hear music • A multicenter prospective observational study of and sometimes I lose my memory after… I had told my doctor about this So if everyone thinks patients with newly treated focal epilepsy feeling and he just laughed, but it wasn't until I was rushed by • Goal: identify biomarkers of drug resistance, disease the auras are seizures if ambulance to an emergency room that they suggested I go see a progression, and comorbidity development neurologist. Maybe you should do the same. I have these symptoms • Methods I believe auras are also simple partial seizures, and what happens after all the time does that – Electronic seizure diaries is complex partial or beyond. But they are only called auras, if – Annual visits with blood and urine collection mean I have the something happens after them like a grand mal or complex partial. With – Mood and cognitive assessments me, it seems my auras (which are generally depersonlization) might be a seizures all the time??? – MRI and EEG migraine variant function, but while having an EEG and having what I • Currently 300 enrolled globally (30 at UCSF) believed to be an aura at the time, it showed up as epileptic activity. So I don't know! hahaha. www.Epilepsy.com Time to treatment and seizure count What is HEP? by initial seizure type • Inclusion/Exclusion Criteria 1 st seizure to tx (days) 2 nd seizure to tx (days) Total seizures to tx – Age 12-60 # of pts Seizure – High suspicion for focal epilepsy (not IGE) median mean range median mean range median mean range type – At least 1 seizure in past 12 months 1 st & 2 nd -119– – Must be on an AED, but for less than 4 months 64 76 224 0–2803 4 100 2 6 1–133 SGTC. 2346 – No big or progressive lesions (e.g. severe TBI, tumors) 1 st SGTC – No major psychiatric or medical comorbidities (e.g. autism, &. 2 nd non- substance abuse, HIV, CKD, etc) 17 510 768 8–3347 192 393 4–1685 7 61 2–571 SGTC. • If you have a potential candidate, email: manu.hegde@ucsf.edu CPS. 76 272 897 0–9340 233 817 -41–9309 17 128 1–5322 • Visit www.humanepilepsyproject.org for more info SPS. 74 450 1691 1–15798 399 1617 0–15798 27 215 2–5362 4
2/9/2017 Case 4: Reasons for delay to treatment 29yo RH W with FH of epilepsy p/w intermittent “vivid flashbacks” with increasing frequency for which referred by PMD for epilepsy evaluation. 1 st & 2 nd seizures SGTC Initial SGTC then non-GTC Epilepsy diagnosed and AED recommended. Patient elected to obtain EEG and MRI results prior. No delay No delay Delay Delay 7 6 1 PU PU 3 47 17 6 11 1 2 DU DU 3 5 • MRI normal. ED PU/DU UNK UNK • EEG normal. 1 st seizure CPS 1 st seizure SPS • At follow-up, began Lamotrigine and titrated No delay No delay Delay Delay to XR 200mg nightly. PU 40 27 PU 15 DU 17 59 • No additional auras…. 8 66 DU 4 5 ED 4 9 8 ED 9 4 PU/DU PU/DU UNK UNK Acknowledgements Take home points UCSF Epilepsy Center UCSF Epilepsy Center • The delay to diagnosis varies according to the seizure type. • Patients and physicians have a hard time identifying the Dan Lowenstein, MD Dan Lowenstein, MD symptoms of aura or SPS. Paul Garcia, MD Manu Hegde, MD, PhD Robert Knowlton, MD Stacey Balter • Delay may have broad consequences (morbidity, mortality, Heidi Kirsch, MD Rachel Hennessy refractoriness, risks of incorrect treatments, loss of work Tina Shih, MD Jacqueline French, MD etc…) Susannah Cornes, MD Sheryl Haut, MD Manu Hegde, MD, PhD John Hixson, MD • Be vigilant about seizure symptoms, including- Maritza Lopez, RN Kamil Detyniecki, MD – Typical aura symptoms (including nausea, deja vu) Edward Chang, MD HEP Investigators Mariann Ward, NP – Stereotyped symptoms in patient with first GTC or known lesion • Educate our patients and colleagues to do the same. 20 5
Recommend
More recommend
