EDS Diagnosis and Hands On Management: Tightening the Connections
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1 EDS Diagnosis and Hands On Management: Tightening the Connections EDNF CONFERENCE 2013 Providence, RI Jeff Milunsky, M.D. Co-Director, Center for Human Genetics, Inc. Cambridge, MA
2 Disclosure Employed by the Center for Human Genetics, Inc., a non-profit corporation that performs genetic testing. MILUNSKY/CHG 2
3 A Better Quality of Life Genetics Health Medical Care Wellness Environment MILUNSKY/CHG 3
4 Introduction Need Regional quarterback to direct care with willing/helpful PCP of adults & children Holistic approach/medical approach combination Biopsychosocial approach MILUNSKY/CHG 4
5 Introduction Importance of multimodal treatment Individualized treatment same Rx paradigm does not work for all Importance of molecular diagnosis MILUNSKY/CHG 5
6 Importance of Molecular Diagnosis Confirm diagnosis (Important for SSI/disability; IEP/504 Plans at school; other necessary job accommodations) Dispel label of hypochondriac and its all in your head MILUNSKY/CHG 6
7 Importance of Molecular Diagnosis Tracking through family (Especially important due to variable features) Single mutation blood test Allows prenatal/preimplantation diagnosis/more accurate recurrence risks MILUNSKY/CHG 7
8 Importance of Molecular Diagnosis Allows better anticipatory guidance Vascular type vs. other types Vascular events rarer with other types (but reported) MILUNSKY/CHG 8
9 Differential Diagnosis Stickler Syndrome Loeys-Dietz Syndrome Marfan Syndrome Benign Hypermobility Syndrome MILUNSKY/CHG 9
10 EDS: Multisystem Disorder Collagen is everywhere not just skin/joints/bones Beighton Score Multiple different types MILUNSKY/CHG 10
11 Connective Tissue Evaluation History Prenatal Birth Childhood Major Medical Problems MILUNSKY/CHG 11
12 Connective Tissue Evaluation History Surgery and complications Development Imaging (Head/neck/spine/joint) Chiari, syrinx, tethered cord MILUNSKY/CHG 12
13 Family History Known CTD Fractures/Subluxations/Dislocations CL/CP; Early arthritis Sudden death MILUNSKY/CHG 13
14 Family History Aneurysms Consanguinity Multiple miscarriages Intellectual Disability/Learning Disorder MILUNSKY/CHG 14
15 Review of Systems Abnormal scarring/striae/bladder or uterine prolapse/hernias Cardiac Chest pain/ palpitations/ shortness of breath/echo/ekg MILUNSKY/CHG 15
16 Review of Systems Easy bruising GI Vomiting/diarrhea/reflux/ constipation/diet Hearing MILUNSKY/CHG 16
17 Review of Systems ID Recurrent infections Musculoskeletal Joint Pain/pain score/crps/rsd Pes planus/scoliosis MILUNSKY/CHG 17
18 Review of Systems Neurology Headaches/Autonomic dysfunction/raynaud s phenomenon Ophthalmology Myopia/retinal detachment MILUNSKY/CHG 18
19 Review of Systems POTS Tinnitus/paresthesias/ dizziness/vertigo/fatigue/ brain fog TMJ pain/malocclusion/gum recession MILUNSKY/CHG 19
20 Medications Oral Injectable Topical Vitamins/herbs/supplements MILUNSKY/CHG 20
21 Additional Therapies/Devices Biofeedback Physical Therapy/Occupational Therapy Massage, Trigger Point, Neuromuscular Therapy Acupuncture TENS MILUNSKY/CHG 21
22 Additional Therapies/Devices Scheduled rest/modified schedule Prolotherapy Dry needling Splints/ring splints MILUNSKY/CHG 22
23 Additional Therapies/Devices Mattress/pillow/adjustable bed Diet (Gluten free, etc) Ergonomics Compression Stockings/abdominal binding MILUNSKY/CHG 23
24 Additional Therapies/Devices Braces Bite guards Shoe inserts Heat/ice Shower Chair MILUNSKY/CHG 24
25 MILUNSKY/CHG 25
26 Importance of Psychotherapy Chronic pain/anxiety/depression Cognitive Behavioral Psychodynamic Family Long term MILUNSKY/CHG 26
27 Physical Exam Anthropometrics - Weight/height/head circumference Facial features Recessed chin/ hypertelorism/bifid or broad uvula/ pinched nose/sunken eyes/midface hypoplasia MILUNSKY/CHG 27
28 Physical Exam Connective tissue signs High palate/ prominent ears Beighton score/ghent score Atypical or Atrophic scar/striae Thumb/wrist/umbilical sign MILUNSKY/CHG 28
29 Physical Exam Hyperreflexia Skin translucent, spheroids, prominent veins, tenting Scoliosis, pes planus MILUNSKY/CHG 29
30 EDS type I/II Molecular Diagnosis COL5A1 (most common) COL5A2 (most common) COL1A1 (rare) EDS type III (minority TNX) < 5% MILUNSKY/CHG 30
31 Molecular Diagnosis EDS type IV (Vascular) COL3A1 (98% detection rate) Stickler Syndrome I COL2A1 (80-90% detection rate) MILUNSKY/CHG 31
32 Molecular Diagnosis Loeys-Dietz Syndrome TGFBR1 (most common) TGFBR2 (most common) TGFB2 SMAD 3 MILUNSKY/CHG 32
33 Molecular Diagnosis Marfan Syndrome FBN1 (95% detection rate) Beals Contractural Arachnodactyly FBN2 (90% detection rate) MILUNSKY/CHG 33
34 MILUNSKY/CHG 34
35 EDS Issues That Need Management Pain/muscle spasms/joint hypermobility Autonomic dysfunction/pots/cardiac issues/aneurysms/aortic dilation/mvp/ vascular fragility GI dysfunction MILUNSKY/CHG 35
36 EDS Issues That Need Management Vitamin D status, bone health, fractures, DEXA scan Anxiety/Depression/Adjustment/Family relationships/dynamics Pregnancy/Delivery/Postpartum Disability MILUNSKY/CHG 36
37 EDS Issues That Need Management Chiari/syrynx/tethered cord/ha/ migraines/csf leak Myopia Dental issues/tmj issues Misdiagnosis MILUNSKY/CHG 37
38 EDS Issues That Need Mast cell issues Management Bladder/uterine prolapse Dual diagnosis that confound one single diagnosis Sleep issues MILUNSKY/CHG 38
39 EDS Management Systems Approach Do not just treat one system at a time Making improvements in each system will improve quality of life Most systems connected i.e. fix GI tract & Vitamin D level benefits pain MILUNSKY/CHG 39
40 EDS Management Individualize care & recommendations Create Care Team that works collaboratively with patients and PCP s Treat whole patient and family MILUNSKY/CHG 40
41 A Better Quality of Life Reasonable and achievable goal MILUNSKY/CHG 41
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