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Metabolic Medicine: At a crossroads
Mark S. Korson, MD Tufts Medical Center Boston, MA
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A Promising Future!
• New diagnostic technologies are being developed
• Newborn screening programs are expanding to include new disorders
• New and innovative therapies are being developed
• There is a gradual rise in “metabolic awareness”
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An Evolving Crisis – in care
• The # of diagnosed metabolic patients is rising • The amount of work/patient is also rising:
– therapies become more complex – insurance coverage becomes more of a
challenge – community and support services shrink – primary doctors are playing less of a role in complex
care
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An Evolving Crisis – in care
• The # of diagnosed metabolic patients is rising • The amount of work/patient is also rising But… • The # of metabolic clinicians is not increasing • A large # of metabolic clinicians will retire within the next 5-10 years
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An Evolving Crisis – in care
• Most metabolic physicians are pediatricians but metabolism is no longer just a pediatric subspecialty
• Adult medicine trainees have little/no metabolic experience
• Transition from pediatric adult health care is a major issue
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An Evolving Crisis – in education
• Teaching about metabolic disorders at all levels of medicine is inadequate
• Exposure by students and residents to the field of metabolic disorders is very sporadic
• Awareness about biochemical genetics as a career choice is low
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An Evolving Crisis!
• In workload • In numbers of metabolic personnel (pediatrics and adult medicine)
• In numbers of metabolic trainees • In metabolic disease awareness and education
Threatens the care of
metabolic patients
Threatens the wellbeing of metabolic
professionals
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Current Approaches - 1
Increase the # of metabolic clinicians:
Funding from industry to help support fellowship training in biochemical genetics
North American Metabolic Academy
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Current Approaches - 1
Increase the # of metabolic clinicians:
North American Metabolic Academy
• annual event, beginning in 2008
• 30 trained per year, this year 45
• targets Genetics and Metabolism trainees to provide a better foundation in metabolic disease
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Current Approaches - 2
Educate non-geneticists in metabolic diagnosis and management
Educate medical students, interns and residents at teaching hospitals
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Current Approaches- 2
Metabolic Outreach Service
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Current Approaches- 2
• Occurred at Boston Medical Center (Boston University Medical School affiliate) Nov/03 - Jul/04
• Pilot supported by Genzyme Therapeutics
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Date Event Topic # Attendees
Nov 2003 Pedi Resident Rds Hypoglycemia 15
Dec 2003 Grand Rounds Hyperammonemia 60
Dec 2003 Case of the Wk Patient Forum: urea cycle disorder
75
Feb 2004 Case of the Wk Unknown case: Hypoglycemia
75
Mar 2004 Pedi/Adult ER Rds Lethargy in the ER 35
Mar 2004 Pedi Morning Rds Unknown case: Vomiting with lethargy
15
Mar 2004 Resident Rds Coarse-appearing facies 12
Apr 2004 Pedi Morning Rds Unknown case: Neonatal seizures
21
Apr 2004 NICU Rounds Metabolic disease in infancy
12
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Date Event Topic # Attendees
May 2004 Case of the Wk Gaucher disease 42
May 2004 Pedi Morning Rds Gaucher disease, mitochondrial disease
12
Jun 2004 Pedi Morning Rds General symptoms 22
Jun 2004 NICU Rounds Metabolic liver disease, Part I
7
Jun 2004 NICU Rounds Metabolic liver disease, Part II
7
Jun 2004 Pedi Morning Rds Neonatal liver disease 23
July 2004 Case of the Wk Mitochondrial disease 55
July 2004 Pedi Morning Rds Neurodegenerative disease in newborns
14
July 2004 Cardiology Rds Metabolic heart disease 22
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Date Event Topic # Attendees
May 2004 Case of the Wk Gaucher disease 42
May 2004 Pedi Morning Rds Gaucher disease, mitochondrial disease
12
Jun 2004 Pedi Morning Rds General symptoms 22
Jun 2004 NICU Rounds Metabolic liver disease, Part I
7
Jun 2004 NICU Rounds Metabolic liver disease, Part II
7
Jun 2004 Pedi Morning Rds Neonatal liver disease 23
July 2004 Case of the Wk Mitochondrial disease 55
July 2004 Pedi Morning Rds Neurodegenerative disease in neonates
14
July 2004 Cardiology Rds Metabolic heart disease 22
In the audience:
- Medical students - Interns and residents - Attending physicians (generalists and subspecialists)
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Metabolic Outreach Service
• Began in November 2007 with generous support from:
• Genzyme Therapeutics • Ucyclyd Pharma • Shire Human Genetic Therapies • Sigma-Tau, Inc • Actelion Pharmaceuticals • Biomarin Pharmaceutical • The Baby Lorenzo Gregory Scavio Fund
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Baystate Medical Center
Dartmouth-Hitchcock Medical Center
Vermont Children’s Hospital
Boston Med Ctr
Eastern Maine
Medical Center
Maimonides Medical Center
Metabolic Outreach Service
• All major teaching hospitals
• Each has a Genetic Service
• The Genetic Services do not feel comfortable managing metabolic patients
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Metabolic Outreach Service - Aims
1. Provide a sustained educational outreach to medical centers without an on-site metabolic specialist
3. Cultivate a local metabolic expertise
5. Develop long-distance mechanisms for aiding in diagnosis and treatment
7. Attract trainees to a career in biochemical genetics
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Metabolic Outreach Service - Aims
1. Provide a sustained educational outreach to medical centers without an on-site metabolic specialist
3. Cultivate a local metabolic expertise
5. Develop long-distance mechanisms for aiding in diagnosis and treatment
7. Attract trainees to a career in biochemical genetics
• Educational workshops • Laboratory workshops • Patient Forums
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Case # 6
A 2 ½ year old boy develops cough and cold symptoms two days prior to admission. His pediatrician diagnoses a pharyngitis; the patient takes only fluids but smaller volumes than usual. On the morning of the third day, he is pale and difficult to rouse. He is rushed to the ER and has a seizure in the car. His blood glucose measures 25 mg/dL. Blood gases – pH=7.29, pCO2=31, HCO3=15. Electrolytes measure Na=131, K=4.4, Cl=99. His urinalysis shows - pH=5.0, no glucose or protein, and 1+ ketones.
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Case #6: Analysis
• Blood gases: primary metabolic acidosis, secondary respiratory alkalosis
• Anion gap = 17 • Ammonia = not known • Glucose = low • Ketones = inappropriately low
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HYPOGLYCEMIA Check urine ketones
Ketotic hypoglycemia Stress Metabolic disease Endocrinopathies
INAPPROPRIATELY LOW KETONURIA
High Insulin State
Low Insulin State
Insulin tumor Infant of DM mother Beckwith-Wiedemann
syndrome Iatrogenic
Fatty acid oxid’n defects
GSD type I
APPROPRIATE KETONURIA
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Case #6: Analysis
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Patient Forums
• Brief introductory overview of the disease from a medical perspective
• Patients and parents speak and share: – Their diagnostic journey – Their perspectives on therapy – The day-to-day challenges they face
Patients don’t talk about facts; they tell a story and people remember stories.
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Patient Forums
• This aspect of the Outreach Service is called the
Patient-As-Teacher Project
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Patient Forums
• Speaker’s Registry = 60 patient/parent teachers, representing 25 different diagnoses
• Most are repeat speakers
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Patient Forums
The audience remembers!
They generate interest
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Case Reviews
• On-site • Long distance • This is NOT a satellite clinic – it’s about helping clinicians work through their own cases
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As of June 2010: • # of educational sessions = 136
• # of patient forums = 21 (13 disorders)
• # of case reviews = 299
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0
15
30
45
60
75
90
105
120
135
150
Oct/2007 Dec2008 Dec2009
LECTURES
0
30
60
90
120
150
300
180
210
240
270
CASE REVIEWS
0
2
4
6
8
10
12
14
16
18
PATIENT FORUMS
CUMULATIVE MOS DATA I Jun2010
20
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As of June 2010: • TOTAL # participants in MOS = 5174
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0
600
1200
1800
2400
3000
3600
4200
4800
5400
6000
Oct/2007 Dec2008 Dec2009
# PARTICIPANTS IN ALL MOS ACTIVITIES
CUMULATIVE MOS DATA II Jun2010
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Evaluation of MOS
• Attendance • Evaluations • Audience response system • Lab test ordering • New interest in metabolic disease • Clinical care
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Evaluation of MOS – Evaluations
• Achieved stated goals = 4.8
• Topic relevant = 4.03
• Presentation effective = 4.65
• Audience participation = 4.52
• Overall satisfaction = 4.8
5 4 3 2 1
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Evaluation of MOS – Evaluations
• Will this information change your practice?
YES = 454
NO = 51
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Evaluation of MOS – ARS
• Audience response system • A test of short-term learning
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Baystate Medical Center Lecture – Overview of acute metabolic disease
RESULTS OF PRE- AND POST-TESTING June 29-30, 2010
TOPIC PRE (% correct answers) POST (% correct answers) Urea cycle disorder testing 70 90 Significance of high ammonia 75 91 ER mgmt of metabolic crisis 53 94 Fatty acid oxidation testing 93 84 Triggers for metabolic crisis 61 93 Organic acidemias – testing 3 45 Metabolic disease + sudden death 50 74 Metabolic physiology 68 100 Hypoglycemia 59 65 Fatty acid oxidation defects 33 42 Metabolic disease testing 71 91 Metabolic disease testing 75 94 # of RESPONDENTS 33
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Maimonides Medical Center Lecture – A case of hepatosplenomegaly
March 11, 2010 TOPIC PRE (% correct answers) POST (% correct answers)
Age of presentation of Gaucher
0 77
Bone pain in Gaucher disease
30 67
Ethnic predilection in Gaucher
96 100
Gaucher sub-types 77 92 Gaucher type I phenotype
58 84
Testing for Gaucher 96 100 Organ screening in Gaucher
85 96
Gaucher therapy 54 85 # RESPONDENTS 40
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Evaluation of MOS – Lab Test Ordering
AMMONIA
2007 2008 2009
Baystate 2630 2717 2958 Dartmouth 57 98 99 Vermont 70 92 88 Maimonides - 1355 1749
Onset of MOS
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Evaluation of MOS – Lab Test Ordering
BLOOD AMINO ACIDS
2007 2008 2009
Baystate 246 189 189 Dartmouth 57 98 99 Vermont 24 47 74 Maimonides 38 43 20
Onset of MOS
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Evaluation of MOS – Lab Test Ordering
URINE ORGANIC ACIDS
2007 2008 2009
Baystate 285 196 196 Dartmouth 112 128 128 Vermont 0 34 70 Maimonides 37 32 29
Onset of MOS
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Evaluation of MOS – New interest
Electives: 2 pediatric residents 3 medical students
Projects: 1 genetic counselor 3 medical student projects
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Evaluation of MOS – Clinical care
Increasing the role of non-metabolic centers in metabolic care:
1. Newborn with a urea cycle disorder in Burlington, VT
2. Developing a “metabolic supervision service” • Baystate Medical Center • Vermont Children’s Hospital • Eastern Maine Medical Center
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What have I learned?
• People like simple, clinical, practical, interactive workshops that are symptom-based, not disease-based
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What have I learned?
• People like simple, clinical, practical, interactive workshops that are symptom-based, not disease-based
• Repetition is a powerful teaching tool
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METABOLIC APPROACH: Metabolic Acidosis, Hyperammonemia, Hypoglycemia
Mark Korson, MD Metabolism Service
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Mark S. Korson, MD
The Dietary History: A Metabolic Clue
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METABOLIC EMERGENCIES
Mark S. Korson, MD
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WHEN TO THINK METABOLIC WHEN YOU’RE DOING GI Mark S. Korson, MD
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HYPERAMMONEMIA: A Metabolic Approach
Mark S. Korson, MD
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NEWBORN SCREENING:
Mark S. Korson, MD
The Largest and Most Successful Genetic Screening Program in the World
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Mark S. Korson, MD
Pregnancy Affecting Metabolic Disease and Metabolic Disease Affecting Pregnancy
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PSYCHIATRIC SYMPTOMS IN METABOLIC DISEASE
Mark S. Korson, MD
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Metabolic Causes of Stroke
Mark S. Korson, MD
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The Vomiting Child: When to think “metabolic”
Mark S. Korson, MD
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Metabolic Disease in Adult Medicine: What (and who) are we missing?
Mark S. Korson, MD
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BOARD REVIEW QUESTIONS: for Pediatrics
Mark S. Korson, MD
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What have I learned?
• People like simple, clinical, practical, interactive workshops that are symptom-based, not disease-based
• Repetition is a powerful teaching tool • Visiting the medical centers educates medical students & house-staff, less so attending physicians
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Other subspecialties & metabolic disease
• Survey at NeoPREP • NeoPREP = annual review course for newborn medicine specialists
• 185 respondents • 85% would attend a 1-day course of key metabolic-oriented lectures pertaining to neonatology
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PEDIATRIC NEUROLOGY Metabolic Seminars
Example…
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PEDIATRIC GI Metabolic Seminars
Example…
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What have I learned?
• People like simple, clinical, practical, interactive workshops that are symptom-based, not disease-based
• Repetition is a powerful teaching tool • Visiting the medical centers educates medical students & house-staff, less so attending MDs
• Patients and parents are powerful teachers • Teaching medical students early in their training (1st year!) may be a way to get them interested in metabolic medicine
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Patient-As-Teacher Project
• Expand the Speakers Bureau
• Expand the number of diseases represented in the Speakers Bureau
• Expand the number of speaking opportunities
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Patient-As-Teacher Project
CURRENTLY - • Tufts Medical School,
Boston
PLANNED for 2010-2011 - • Tufts Medical School,
Boston • Boston University Medical
School • Dartmouth Medical School • Univ of VT Medical School • Downstate Medical School,
NY
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Patient-As-Teacher Project
CURRENTLY - • Tufts Medical School,
Boston
PLANNED for 2010-2011 - • Tufts Medical School,
Boston • Boston University Medical
School • Dartmouth Medical School • Univ of VT Medical School • Downstate Medical School,
NY
PROMOTE ELECTIVES AND PROJECTS
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P stands for PATIENTS PARENTS POWER
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Patient Power is not just desirable,
it is essential for the future and wellbeing of this
subspecialty.
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Patients = Power
1. Metabolic clinics cannot do alone all that needs to be done.
2. Clinicians need the patient perspective. 3. Patients need to help shape health policy. 4. Patients can promote communication between
competitive researchers.
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Parent/Patient Support Organizations
• Support • Communication • Education • Awareness
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• “Activist” organizations, pushing the field forward • Missions:
– Fundraising – Research grants – Advocacy:
• government • insurance • pharmaceutical industry
– Set public health policy • newborn screening
Parent/Patient Support Organizations
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POWER PROJECTS
RESEARCH: 1. Goals:
• find better diagnostic tools • find better therapies • find a cure
2. Disease foundation grants supplement the diminishing availability of research funding from traditional sources
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POWER PROJECTS
ADVOCACY: Goals:
• develop support mechanisms within the patient community
• if patients can advocate for themselves and each other, it eases some of the burden from the clinics
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POWER PROJECTS
POLICY/LAW: 1. Goals:
• raise awareness about metabolic disease • develop legislation and policy favorable to
metabolic diagnosis and management 2. Approach your district representative.
Government listens to voters more than doctors! 3. Go public on key issues!
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POWER PROJECTS
TEACHING: 1. Goals:
• raise awareness about metabolic disease • attract more trainees into this area
2. Approach your local medical school or teaching hospital, speak in a Speaker’s Bureau, or speak on behalf of a disease foundation
3. Teach the intern taking care of you/your child 4. Support teaching initiatives Be patient !
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POWER PROJECTS
FUNDRAISING: 1. Goals:
• support your local (money-losing) clinic • support the quality of care you receive • ask the clinic what they need to serve you
better 2. Don’t only support innovative ideas or the future
cure. Also support the care that helps patients today.
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P stands for PATIENTS PARENTS POWER PARTNERSHIP
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Don’t just be my patient. Be my partner in care
and teaching.
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THANK YOU FOR LISTENING!
Mark Korson, MD
Tufts Medical Center, Boston 800 Washington Street Boston, MA 02111