290 likes | 518 Views
The Most Important Things You Need To Know About Epilepsy. Patricia Dugan, MD Assistant Professor of Neurology NYU Langone Medical Center May 5, 2012. Epilepsy is a common disorder. Estimated 2.2 million people with epilepsy in US (IOM report 2012)
E N D
The Most Important Things You Need To Know About Epilepsy Patricia Dugan, MD Assistant Professor of Neurology NYU Langone Medical Center May 5, 2012
Epilepsy is a common disorder • Estimated 2.2 million people with epilepsy in US (IOM report 2012) • 1 in 26 people will develop epilepsy in their lifetime • 0.5% of New Yorkers have epilepsy (Kelvin et al, 2006) • Most common neurological disorder after migraine, stroke, Alzheimer’s (Hirtz et al 2007) • More common than Parkinson’s and MS combined • Lifetime burden of disease is high
Onset of epilepsy is most common in infancy and in older adults • Incidence of epilepsy decreasing in the young and increasing in the elderly • Strokes, Alzheimer’s, Tumors are more common causes of epilepsy in the elderly
Most epilepsy is due to an unknown cause Olafsson et al, Lancet Neurology 2005
Genetics of epilepsy • Only 2% of epilepsy is attributed to a known genetic cause • Likely there are more but we do not know the genes yet • Likely genetics plays a role in susceptibility to develop seizures after an injury • Known genetic causes of epilepsy are most often due to genes that cause defects in brain development, neuron migration or ion channel function • If there is no known genetic cause, risk of epilepsy in children of parents with epilepsy is low • Generalized epilepsy more commonly inherited (4-10%) • <5% risk if mother has epilepsy, <2.5% if father has epilepsy
Not all seizures are tonic-clonic seizures • Multiple types of seizures • Generalized • Absence • Myoclonic • Tonic/Atonic • Atypical Absence • Clonic • Primary generalized tonic-clonic • Partial Onset • Simple Partial • Complex Partial • Secondarily generalized tonic-clonic
Compared to other seizure types, GTCs are less frequent in many patients with epilepsy • Typically better controlled by medication • Not all convulsive movements are GTCs • GTCs involve stiffening followed by shaking of both sides • Often groan or cry at onset • Loss of posture or fall • Deep breathing and unresponsiveness afterwards • Simple & complex partial seizures are more common in focal epilepsies Epilepsyfoundation.org
Delay to diagnosis In one study of new onset seizures, 36% had seizures preceding the event that brought them to treatment; 5% had seizures for >5 years (Marson et al, 2005) Patients may have smaller seizures (simple partial, complex partial and myoclonic seizures) for years Only when they have GTC is the diagnosis clear Events may be misdiagnosed as panic attacks, migraines, TIAs, etc for years Delay to diagnosis of some epilepsy syndromes may lead to improper treatment JME – mean delay to definitive diagnosis ~5-14 years May be treated with wrong drug Need to ask about myoclonic jerks during wakefulness – not all patients recognize these as seizures or think they are abnormal
Mimics of epilepsy & seizures • Psychogenic non-epileptic events • ~1/4 of patients seen for intractable “seizures” • Delay to diagnosis is long (up to 7 yrs) • Video-EEG is the gold standard diagnosis • Can coexist with epileptic seizures • Syncope • Fainting due to low blood pressure because arrhythmia or vasovagal • About 30-80% with syncope will have some convulsive movements
Hypoglycemia • Can cause episodic loss or decreased consciousness • Can cause seizure as well • Panic attacks • Can be mistaken for simple partial seizures • Typically last much longer than the average seizure (10 min), have a crescendo, situational • Dystonias • Abnormal stiffening or postures • Lasts hours • Sleep disorders • Cataplexy/Narcolepsy • Parasomnias – sleep walking, night terrors and confusional arousals • REM behavior disorder • Often can be diagnosed with a sleep study • Hypnic jerks • Sudden, myoclonic jerk as drifting off to sleep • Normal & benign; often provoked by sleep deprivation.
Many seizures are unrecognized • Seizures can impair awareness and memory, including awareness of having a seizure • In one study, only 26% of patients were aware of ALL of their seizures; 30% of patients were NEVER aware of their seizures (Blum et al, 1996) • This may be problem when assessing response to treatment, especially in people who live alone • Some hints that seizure may have occurred include – lost time, headache, fatigue, tongue bite, unexplained muscle soreness
Emergency management ACUTE SEIZURE • Little to be done other than protect patient from injury • No indication for anticonvulsants during course of an uncomplicated seizure
First aid for seizures • Call for an ambulance if: • The seizure lasts >5 mins • No “epilepsy” ID • Slow recovery, difficulty breathing, or a second seizure • Pregnancy or other medical diagnosis • Any signs of injury or sickness Epilepsy Foundation
Mood disorders and epilepsy • Depression is common in people with epilepsy • 11-60% will have depressive symptoms • More common in people with difficult to control epilepsy • Much higher than general population • Often unrecognized and untreated • May be bigger impact on quality of life than seizures • 3x higher risk of having suicidal thoughts • Relationship to medications is controversial Hesdorffer et al, 2006
Epilepsy is more common in people with depression • Having depression or suicidality increases chances of developing epilepsy later on by 5-7 times • Anxiety disorders more common in people with epilepsy – 30%
Women’s issues in epilepsy • Sex steroid hormones: estrogen (proconvulsant), progesterone (anticonvulsant) • Seizures may change during puberty, menstrual cycle, pregnancy, menopause • Sexual dysfunction: affects both men and women • Seizures and menses: multiple proposed mechanisms • Fertility • Contraception: enzyme-inducing meds will alter efficacy of OCP • General health issues: osteopenia, osteoporosis • Pregnancy: • Changes in antiepileptic drug concentrations (increased metabolism and clearance) • Choice of medications • Folic acid supplementation • Postpartum: sleep deprivation, serum levels, breastfeeding • Menopause: perimenopause (seizures may worsen) vs menopause (may improve)
Mortality and epilepsy • Most people with epilepsy live normal, long productive lives • However, epilepsy is associated with a 2-3 x elevation in age-adjusted mortality and decreased life-expectancy • Some of the mortality is due to underlying cause of epilepsy (e.g. strokes, tumors, etc) • People without a known cause of epilepsy have only a ~1.5x increase in mortality rate Lhatoo et al, 2008
Causes of death in epilepsy • Epilepsy & seizure related • Sudden unexpected death in epilepsy • Probably most common cause in difficult to treat epilepsy • Status epilepticus • Accidents and drownings • Suicide • Drug reactions • Other – related to cause of epilepsy • Brain tumors • Pneumonia • Brain infections • Neurodegenerative disease
The “refractory” patient • 25–30% of people with epilepsy do not respond to adequate antiepileptic treatment and are said to have“refractory epilepsy” • “Refractory:” when satisfactory seizure control cannot be achieved with any of the potentially available effective antiepileptic drugs (AEDs), alone or in combination, at doses or levels not associated with unacceptable side effects • The terms "intractable," "medically refractory,“ or “treatment resistant” are interchangeable • There is no single step in the medical management of a patient with epilepsy after which he/she can be declared medically intractable; every patient is different
The “refractory” patient • The level of refractoriness should be evaluated on an individual basis • Different people will define “satisfactory control” in vastly different ways • Is the patient highly functional and potentially productive? (Even a few seizures per year could be devastating.) • Are seizures mostly nocturnal? (If so, how do they impact the patient’s activities of daily living?) • Unacceptable toxicity? (For example: one patient may accept living with a certain degree of sedation, while another will report every possible side effect listed in the package insert.)
The “refractory” patient • At least 20% of patients with uncontrolled complex partial seizures may be expected to be “refractory” when they first present to an epilepsy clinic • Must investigate for and rule out possible causes of poor seizure control such as: • Patient Error • Poor compliance • Erratic lifestyle • Physician Error • Misdiagnosed non-epileptic seizures • Misclassification of epileptic seizures • Unrecognized progressive brain disease • Failure to uncover precipitating factor • Improper choice of drug(s) • Inadequate drug dosage • Inappropriate combination of drugs • Drug interactions
Famous people you didn’t know had epilepsy Charles Dickens Truman Capote Tiki Barber Alexander the Great Dante Harriet Tubman Edgar Allan Poe Richard Burton Neil Young Julius Caesar Gustave Flaubert Leo Tolstoy Soren Kierkegaard James Madison Florence Griffith Joyner http://www.epilepsy.com/epilepsy/famous
Thank you! Karlheinz Geier: The Symbolism of Epilepsy. Drawing, 1983