Transcript Benign Joint Hypermobility syndrome

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 following
disease 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(80100mg/kg/d) Aspirin to start
– No coronary changes = Low-dose Aspirin (35mg/kg/d) x 6-8wks
– Transient coronary ectasia = Low-dose Aspirin x 68wks
– 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