Download Ten Things You Didn*t Know About Epilepsy (But You Should)

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
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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
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~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
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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
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Status epilepticus
Accidents and drownings
Suicide
Drug reactions
• Other – related to cause of epilepsy
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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
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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
Alexander the Great
Dante
Tiki Barber
Harriet Tubman
Edgar Allan Poe
Richard Burton
Neil Young
Julius Caesar
Gustave Flaubert
Leo Tolstoy
http://www.epilepsy.com/epilepsy/famous
Soren Kierkegaard
Florence Griffith Joyner
James Madison
Thank you!
Karlheinz Geier: The Symbolism of Epilepsy. Drawing, 1983