Benign Joint Hypermobility syndrome

2. Benign Joint Hypermobility syndrome

3. Joint Complaints What do we worry about? What is most common? “Growing pains” Hypermobility syndromes Patellofemoral syndrome Pesplanus • Inflammatory • Infectious • Neoplastic • Traumatic • Biomechanical

4. Introduction to BJHS… • Termed “benign” to distinguish it from inherited connective tissue disorders that may be associated with joint hypermobility • Marfan syndrome, E-D, OI, Stickler syndrome • Prevalence 2-30% • Highest frequency seen in: • Families with one or more affected individuals • Females • Persons of African, Asian or Middle Eastern descent • Highest occurrence in children 3-10 yo

5. Introduction to BJHS (con’t)… • Joint hypermobility= a joint that that exceeds the normal range of movement as determined by the joint capsule and surrounding soft tissues • Cause is thought to be excessive ligamentous laxity

6. Question #9 • All of the following accurately describe the joint complaints/ manifestations of BJHS EXCEPT: • A. Episodic nature • B. Bilateral and symmetric • C. May wake the child from sleep • D. Occur in the early AM • E. Resolve with rest and supportive care

7. Clinical Presentation • Local or generalized arthralgias • Knees, ankles, hips or back • Symmetric • May wake the child from sleep • Episodic • Occur in late afternoon or early evening, especially after excessive exercise • Symptoms are self-limited and resolve with rest and supportive care

8. Physical Exam • May have periarticular swelling but no: • Erythema • Warmth • Significant tenderness

10. Question #10 • A 11 yo F presents with c/o episodic bilateral knee pain for the past 2 months. The pain is much worse in the evenings after soccer practice. On PE, she scores 7/9 points on the Beighton scale. You diagnose her with benign joint hypermobility syndrome. For treatment, you are most likely going to: • A. Advise wearing knee braces during all strenuous activity • B. Start a course of prednisone to reduce inflammation in the knees • C. Counsel her regarding the chronic nature of BJHS and send her to PT for strengthening exercises • D. Perform a joint aspiration to rule out infection and relieve pressure on the joints • E. Give her a trial of NSAIDs and tell her to avoid all activity for a period of 6-8 weeks

11. Management • Reassurance • Patient education • Improved fitness/ physical therapy • Muscle strengthening exercises • Return to normal activity • No long-term splinting • TEMPORARY support devices may be helpful • Pain control • NSAIDs

12. Prognosis • Significant prognostic factor: association of exercising with exacerbating pain in hypermobile joints • Children with symptomatic hypermobility have decreased physical activity muscle deconditioning, atrophy, worsening posture worsening of pain further decrease in activity sedentary behavior obesity decreased activity • Overall prognosis is good for future function • Controversial debates regarding whether BJHS predisposes to early osteoarthritis/ degenerative joint disease

13. Question #11 • An 11 yo F presents with a 6 week h/o “aching” in her muscles along with progressive rash. The rash started on her eyelids, but has since spread to her nasal bridge, cheeks, knees and elbows. Lab evaluation is significant for an elevated CK and aldolase level along with increased vWF antigen and activity. Of the following, which is the most likely additional PE finding on this patient? • A. Arthritis • B. Proximal muscle weakness • C. Alopecia • D. Hyperextensible joints • E. Conjunctivitis

14. Dermatomyositis

15. Introduction • Vasculopathic disease of unknown cause that results in skin and muscle disease • “Classic picture” (per the ABP content specs) • Pain • Weakness • Rash

16. Typical Clinical Presentation • Heliotrope rash around the eyes • Proximal muscle weakness • Periungualerythema • Gottron papules • Found on knuckles and other extensor surfaces • Pink and smooth or scaly

20. Other Clinical Manifestations • Raynaud’s phenomenon • Arthralgia • Restrictive lung disease • Abdominal pain • Involvement of the swallowing mechanism • Ulceration/ perforation of the GI tract

21. Question #12 • A 14 yo girl first developed redness across the bridge of her nose and on her cheeks about 3 months ago. Subsequently, the rash spread to involve more of her face as well as her hands. She now reports increasing fatigue and some weakness; she has had difficulty climbing the stairs and has needed help brushing her hair. She has had no fever or joint swelling. PE of the appropriately developed teen reveals normal VS; a heliotrope rash involving the eyelids, nasal bridge and cheeks; and erythematous scaling papules on the extensor surfaces of her metacarpal, phalangeal, and interphalangeal joints. She has weakness and tenderness of the proximal musculature and must employ the Gower maneuver to rise from a sitting position. Of the following, the test that is MOST likely to contribute to the diagnosis is: • A. Cranial CT scan • B. Edrophonium (Tensilon) test • C. Electroneurography • D. MRI of the proximal muscles • E. Skin biopsy

22. Laboratory Findings • Elevation of muscle enzymes: • Creatinekinase (CK) • CK-MB • AST/ALT • LDH • Aldolase • Increased von Willebrand factor antigen and activity

23. Imaging • MRI • Identifies myopathic processes • Aids in finding a site for muscle biopsy • Process often patchy • Useful in following disease course

24. Biopsy • Endomysial and perivascular chronic inflammation • Occasional small vessel wall infiltration • Degenerating and regenerating muscle fibers

25. Therapy • High dose steroids (IV pulse) • Followed by oral taper • Methotrexate • IVIG • Cyclosporine or tacrolimus • Cyclophosphamide

26. Kawasaki Disease

27. Kawasaki Disease • Acute, self-limited vasculitis of unknown cause that has a predilection for the coronary arteries of infants and young children • More prevalent in Japan, but occurs in all races • Most cases occurs in kids < 5 years • All deaths occur from cardiac sequelae (mortality is 0.17%)

28. Causes and Pathogenesis • Cause is still unknown • Infectious source is suspected • Lab features suggest infection as cause for inflammation • Generalized vasculitis affecting all blood vessels • Preferential to the coronary arteries • Can cause severe coronary artery aneurysms in untreated

29. Diagnosis

32. Other Clinical Findings • Arthritis/arthralgia • Irritability • Diarrhea, vomiting, abdominal pain • Hepatomegaly and jaundice • Acalculous distention of the gallbladder • Abnormal findings on CXR

33. Question #13 • An 18-month-old boy has 8 days of fever to 101.5, diffuse maculopapular rash, and erythematous and cracked lips. His eyes, hands, and feet appear normal and he has no lymphadenopathy. You suspect incomplete KD. His CRP and ESR are elevated. • What additional laboratory finding is MOST suggestive of the need to treat for KD? • A. Leukopenia • B. Thrombocytopenia • C. Elevated albumin • D. Elevated alanine aminotransferase • E. Normal urinalysis

34. Laboratory Evaluation • Leukocytosis • WBC >15,000 • Anemia • Elevated acute phase reactants • ESR and CRP • Thrombocytosis • Elevated serum transaminases • Hypoalbuminemia • Sterile pyuria • Aseptic meningitis

35. Incomplete or Atypical KD

36. Question #14 • A 4 ½ year old girl comes to the ER with 5 days of fever, a sore throat , and a rash all over that started 2 days ago. On PE, she has a “strawberry tongue,” white exudate on her tonsils, cervical lymphadenopathy, and a sandpaper rash on her trunk and extremities. There is no swelling of hands or feet, no conjunctival injection, and she is playful on exam. • Which of the following is the MOST likely diagnosis? • A. Scarlet fever • B. Ebstein-Barr virus • C. Drug hypersensitivity • D. Kawasaki Disease • E. Adenovirus

38. Differential Diagnosis

39. Cardiac complications • 20-25% of untreated children develop coronary artery aneurysms • Other complications include: • Myocarditis • Pericarditis with effusion • Valvulitis (mitral valve) • Aneurysms resolve 1 to 2 years after onset in 50% • Likelihood determined by size • Can rupture within first few months • Worst prognosis = giant aneurysms • MI caused by thrombotic occlusion is cause of death • Occurs in first year

40. Echo • Performed at diagnosis and 2 and 6 weeks after disease onset • Specifically look at all coronary artery segments • If aneurysms not identified in first 1 to 2 months, unlikely to develop • Those with giant aneurysms need more frequent imaging

41. Question #15 • A 5 year old boy has 5 days of fever, bilateral conjunctival injection, cracked lips, swelling of hands and feet, and cervical lymphadenopathy on physical exam. His ESR and CRP are elevated and his UA shows sterile pyuria. • Of the following, the MOST appropriate initial therapy for this child is: • A. Dependent upon the presence of coronary artery involvement • B. High-dose aspirin if coronary arteritis is absent • C. IVIG and high-dose aspirin regardless of echo results • D. IVIG and low-dose aspirin if echo shows absence of coronary artertitis • E. IVIG if echo shows dilated coronary arteries

42. Treatment • Everyone gets IVIG and high-dose(80-100mg/kg/d) Aspirin to start • No coronary changes = Low-dose Aspirin (3-5mg/kg/d) x 6-8wks • Transient coronary ectasia = Low-dose Aspirin x 6-8wks • Small to medium aneurysm = Low-dose Aspirin until regression documented • >1 large or giant aneurysm (>8mm) = Low-dose Aspirin + Warfarin or LMWH • Coronary artery obstruction = Low-dose Aspirin + Warfarin or LMWH

43. Note • Reye syndrome is a risk in children who take salicylates if infected with varicella or influenza • Children on aspirin therapy should receive influenza vaccine routinely • Measles and varicella immunizations should be deferred for 11 months after a child receives IVIG