BENIGN JOINT HYPERMOBILITY SYNDROME

Joint Complaints

What do we worry about?• Inflammatory• Infectious• Neoplastic• Traumatic• Biomechanical

What is most common?• “Growing pains”• Hypermobility syndromes• Patellofemoral syndrome• Pes planus

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

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

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

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

Physical Exam

• May have periarticular swelling but no:– Erythema– Warmth– Significant tenderness

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

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

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

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

DERMATOMYOSITIS

Introduction

• Vasculopathic disease of unknown cause that results in skin and muscle disease

• “Classic picture” (per the ABP content specs)– Pain– Weakness– Rash

Typical Clinical Presentation

• Heliotrope rash around the eyes• Proximal muscle weakness• Periungual erythema• Gottron papules– Found on knuckles and other extensor surfaces– Pink and smooth or scaly

Other Clinical Manifestations

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

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

Laboratory Findings

• Elevation of muscle enzymes:– Creatine kinase (CK)– CK-MB– AST/ALT– LDH– Aldolase

• Increased von Willebrand factor antigen and activity

Imaging• MRI– Identifies myopathic

processes– Aids in finding a site

for muscle biopsy• Process often patchy

– Useful in followingdisease course

Biopsy

• Endomysial and perivascular chronic inflammation

• Occasional small vessel wall infiltration• Degenerating and regenerating muscle fibers

Therapy

• High dose steroids (IV pulse)– Followed by oral taper

• Methotrexate• IVIG• Cyclosporine or tacrolimus• Cyclophosphamide

KAWASAKI DISEASE

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%)

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

Diagnosis

Other Clinical Findings

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

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

Laboratory Evaluation• Leukocytosis– WBC >15,000

• Anemia• Elevated acute phase reactants– ESR and CRP

• Thrombocytosis• Elevated serum transaminases• Hypoalbuminemia• Sterile pyuria• Aseptic meningitis

Incomplete or Atypical KD

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

Differential Diagnosis

Yes No

Bulbar conjunctival injection Conjunctival exudate

Lip redness and swelling (cracking/bleeding)

Oral ulcers or pharyngeal exudate

“Strawberry tongue” Vesicles

Tense swelling of hands and feet Bullae

Perineal accentuation of rash Petiechiae

Purpura

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

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

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

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

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