EDNF Center for Clinical Care & Research at GBMC PHYSICIANS CONFERENCE September 15, 2014

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1 EDNF Center for Clinical Care & Research at GBMC 2014 PHYSICIANS CONFERENCE September 15, 2014

2 Pain in Ehlers-Danlos Syndrome Clair A. Francomano, M.D. Director, EDNF Center for Clinical Care and Research at GBMC Director, Adult Genetics Harvey Institute for Human Genetics Greater Baltimore Medical Center

3 Ehlers-Danlos Syndrome: Multi-system Presentation Musculoskeletal Dermatological Neurological Cardiovascular Gastrointestinal Immunological

4 Joint Hypermobility Syndrome Major Criteria Beighton score > 4/9 Arthralgia for >3 months in 4 or more joints

5 Joint Hypermobility Syndrome Minor Criteria A Beighton score of 1, 2, or 3 of 9 points (0, 1, 2, or 3 points if 50 years old) Arthralgia ( 3 months) in one to three joints or back pain ( 3 months), spondylosis, or spondylolysis/spondylolisthesis Dislocation/subluxation in more than one joint, or in one joint on more than one occasion Soft tissue rheumatism: three lesions (eg, epicondylitis, tenosynovitis, bursitis) Marfanoid habitus (tall, slim, span/height ratio of > 1.03; upper/lower segment ratio of < 0.89; arachnodactyly [positive Steinberg/wrist signs]) Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring Eye signs: drooping eyelids, myopia, or antimongoloid slant Varicose veins, hernia, or uterine/rectal prolapse

6 Brighton Criteria: Joint Hypermobility Syndrome Joint hypermobility syndrome is diagnosed if the patient presents with two major criteria; one major and two minor criteria; or four minor criteria. Two minor criteria will suffice if there is an unequivocally affected first-degree relative. Major 1 and Minor 1 criteria are mutually exclusive, as are Major 2 and Minor 2.

9 Sacheti et al., 1997

10 Sacheti et al., 1997

11 Sacheti et al., 1997

12 Sacheti et al., 1997

14 Grahame: Causes of Pain in Joint Hypermobility Syndrome Vulnerability to soft tissue injury Impairment of Proprioceptive ability Amplification of pain in both children and adults Resistance to local anesthetics Increased incidence of autoimmune disorders Intestinal dysmotility Fibromyalgia associated with joint hypermobility Carpal tunnel syndrome

15 Grahame: Causes of Pain in Joint Hypermobility Syndrome, II Headaches Cervicogenic Orthostatic CSF leaks

16 Origin of Chronic Pain Syndrome in Joint Hypermobility Syndrome Grahame, 2009

18 Maeland et al., 2010

19 Maeland et al., 2010

20 Maeland et al., 2010

21 Maeland et al., 2010

22 Voermans et al., 2010

23 Voermans et al., 2010

24 Voermans et al., 2010

25 Voermans et al., 2010

27 Castori et al., 2013

29 Musculoskeletal Joint hypermobility Joint subluxations and dislocations Tendon and ligament rupture Stress fractures Degenerative disc disease Meniscus tears Chronic pain syndrome Myofascial pain

30 Headache in EDS Migraine Cervicogenic headach Low pressure headaches High pressure headaches Myofascial pain Sinus pain Temporo-mandibular joint problems Dental pain

31 Musculoskeletal Pain in EDS and other Joint Hypermobility Syndromes Joint laxity predisposes to acute injury Muscle spasm in response to acute injury or as a means to stabilize unstable joints Myofascial trigger points develop in response to joint laxity Nerve impingement may result from disc disease or joint laxity, causing muscle spasm as well as neuropathic pain

32 Neurologic Causes of Pain in EDS Craniocervical instability Cervical instability Chiari I malformation Low-lying cerebellar tonsils Increased intracranial pressure CSF leaks Spondylolisthesis Tethered cord Dural ectasia

33 50 consecutive patients with spontaneous CSF leaks were screened for hereditary disorders of connective tissue. Diagnoses were made in 9 (18%) In 7 patients the CSF leak was the first presenting symptom

34 Autonomic Dysfunction Postural orthostatic tachycardia syndrome Neurally mediated hypotension Sleep disturbances Gastrointestinal mobility disturbances Difficulty with temperature regulation

36 Fatigue

37 Cardiovascular Mitral valve prolapse Aortic root dilation Aneurysms (vascular type of EDS) Venous insufficiency Fibromuscular dysplasia

38 Gastrointestinal Hiatal hernia GERD Chronic abdominal pain Gastroparesis Chronic nausea, vomiting Constipation Irritable bowel syndrome Malabsorption

39 Gastrointestinal Pain in EDS Dysmotility Esophageal spasm Gastro-esophageal reflux Constipation Irritable bowel syndrome Sphincter of Odi dysfunction Abdominal wall hernias

40 Immunologic Common Variable Immunodeficiency Multiple allergies Mast cell activation disorder Autoimmune disorders

A sequential cohort of 300 patients HYPERMOBILE CLASSICAL < 18 years of age 18 (6%) 32 (19%) 18 29 years 45 (35%) 44

41 A sequential cohort of 300 patients HYPERMOBILE CLASSICAL < 18 years of age 18 (6%) 32 (19%) years 45 (35%) 44 (26%) years 26 (20%) 42 (24%) years 26 (20%) 38 (22) > 50 years 13 (10%) 16 (9%) Number of patients

42 A sequential cohort of 300 patients HYPERMOBILE CLASSICAL Caucasian 74% 77% Mixed/ Not Caucasian 8% 5% Male** 4% 15% No clinically relevant differences were found between hypermobile and classical patients

43 Mean Beighton scores HYPERMOBILE CLASSICAL 7 7 Age < >50 Beighton score

45 Brief Pain Inventory HYPERMOBILE CLASSICAL Average pain score 5 5 Worst pain score** 8 7 Age < >50 Average pain score Worst pain score

46 Karnofsky performance status scale 100: I feel normal, no complaints, no evidence of disease 90: I am able to carry on normal activity with minor symptoms 80: I carry on normal activity with effort and some symptoms 70: I am able to care for myself, but unable to carry on normal activities 60: I require occasional assistance, but can care for most of my needs 50: I require considerable assistance and frequent care by others 40: I am disabled. I require considerable assistance and frequent care by others 30: I am severely disabled. I am hospitalized, but death is not imminent 20: I am very sick. I require active supportive care by others 10: I have fatal processes that are rapidly progressing. I am near death Saltzstein B.J., Wyshak G, Hubbusch J.T. Perry J.C. A Naturalistic study of the chronic fatigue syndrome among women in primary care. Gen Hosp Psychiatry 1998; 20(5):

Mean Karnofsky scores HYPERMOBILE CLASSICAL 71 67 Age <18 18-29 30-39 40-49 >50 Karnofsky

47 Mean Karnofsky scores HYPERMOBILE CLASSICAL Age < >50 Karnofsky score : I am able to care for myself, but unable to carry on normal activities

48 Much more common than we think Astonishingly, up to 45% of all patients referred to general rheumatology clinics satisfy the Brighton criteria and may therefore be said to have JHS, indicating that this is a very common at-risk phenotype in the community at large Hakim AJ and Grahame R. Int J Clin Pract 2003, 57:

49 Pain in EDS and other Joint Hypermobility Syndromes Pain is a more terrible lord of mankind than death itself. Albert Schweitzer

50 It s not Just EDS! Most pain in EDS has its origins in the musculo-skeletal, gastrointestinal or nervous systems EDS predisposes to certain kinds of pain, but EDS does not cause pain in and of itself

51 Thank you Ms. Christy Haakenson Dr. Anil Mankee Dr. Saqib Baig Dr. Fraser Henderson Dr. Alan Pocinki Dr. Rodney Grahame Our patients and their families

Ehlers- Danlos Syndrome Update Overview. All rights reserved. 1. Clair A. Francomano, M.D. Harvey Ins.tute for Human Gene.cs Bal.

Ehlers- Danlos Syndrome Update 2013 Clair A. Francomano, M.D. Harvey Ins.tute for Human Gene.cs Bal.more, Maryland Overview Review of recent literature Data from GBMC A few key points Mul.ple episodes