Rheumatology/MSK Flashcards
List diagnostic criteria of JDM
- Proximal, symmetric muscle weakness
(Neck flexors, shoulder girdle, hip flexors) - Classic rash: Heliotrope rash, Gottrons Papules
- Elevated muscle enzymes
- EMG changes
- Muscle biopsy
Other symptoms/signs: Nailfold capillary changes Fevers Dysphagia Arthritis Muscle tenderness Fatigue
List 2 long term complications of JDM
Lipodystrophy-progressive loss of subcutaneous and visceral fat
Calcinosis
What tests would you order to diagnose JDM?
Diagnosis is clinical!
But if uncertain, order CK, EMG, MRI (T2 fat-suppressed images show inflammation)
Muscle biopsy is last resort!
Treatment of JDM
Steroids
Methotrexate
PT/OT
Avoid sun exposure, sun screen
What is the pathophysiology of periodic fever syndromes?
-Autoinflammatory
-Exaggerated innate immune response
-Excess release of pro-inflammatory cytokines
(especially IL-1β)
What are the different types of periodic fever syndromes?
- FMF
- PFAPA
- TRAPS (TNF receptor associated periodic fever syndrome)
- MVK (Mevalonate kinase deficiency)/HyperIgD
- FCAS (familial cold autoinflammatory syndrome)
- MWS (Muckle Wells)
What are the features of FMF?
Fever 1-3 days duration*** Irregular interval <10 years (80%) Serositis (peritonitis***, pleuritis, pericarditis), Synovitis Erysipelas-like rash Monoarthritis***
What are the features of PFAPA?
Fever 3-5 days duration Regular (every 3-6 wks)*** < 5 years of age in most*** Aphthous ulcers Pharyngitis Cervical adenitis
What are the features of TRAPS?
Fever 1-3 weeks duration*** Irregular interval At least 2-6x per year <10 years in 75% Exercise may trigger*** Abdominal pain Severe myalgia Arthralgia (large joints) Migratory erythematous plaques Periorbital edema Conjunctivitis*** Serositis
What are the features of MVK/HyperIgD syndrome?
3-7 days duration Every 4-6 weeks Triggered by vaccination, minor trauma, stress Onset <1 year in 70%*** Headache Mucosal aphthous Abdominal pain Vomiting Diarrhea Painful adenopathy Arthritis Splenomegaly Polymorphic rashes;
What are the features of FCAS?
1-24 hours duration*** < 1 year of age**** Irregular interval Triggered by cold Migratory urticarial rash Conjunctivitis, Headache Fatigue Myalgia Arthralgia Joint stiffness
What are the features of MWS?
1-3 days duration Variable age of onset Irregular interval Urticaria-like rash*** Arthralgia or non-erosive arthritis Conjunctivitis Progressive sensorineural hearing loss***
What a reasonable initial workup of periodic fevers?
Bloodwork when well and with fever:
CBC with differential (exclude cyclic neutropenia)
ESR
CRP
Blood culture (early on in course)
Other investigations selectively:
Creatinine, liver function, serum Ig, ANA, ANCA, RF
What are the diagnostic criteria for PFAPA?
1) Regularly occurring fever episodes with an early age of onset (<5 years)
2) Constitutional symptoms in the absence of URTI with at least one of the following ▫ Aphthous stomatitis ▫ Cervical adenopathy ▫ Pharyngitis
3) Exclusion of cyclic neutropenia
4) Completely asymptomatic interval between episodes
5) Normal growth and development
What is the treatment for PFAPA?
1) Prednisone single dose at onset of symptoms
2) Consider tonsillectomy
How do you diagnose FMF?
Clinical features
Genetic testing-80% have MEFV mutation (autosomal recessive)
How do you treat FMF and what is the purpose of treatment?
Colchicine
- Reduces attack rate
- Normalizes acute phase reactants
- Prevents amyloidosis)
What is the most common long term complication of untreated FMF?
Amyloidosis (50%)
-Proteinuria–>renal failure
Other complications:
Joint contractures
Abdominal adhesions
In what ethnicities is FMF more common?
Sephardic Jews, Turks, Armenians, Arab
List 4 poor prognostic factors in Kawasaki Disease
- Young age
- Male
- Prolonged fever
- Lab abnormalities →neutrophilia, thrombocytopenia, transaminitis, hyponatremia, hypoalbuminemia, elevated CRP
- Asian, Pacific Islander, Hispanic ethnicities (higher risk of coronary artery abnormalities)
Criteria for Classic Kawasaki Disease
5 days of fever + 4/5 of:
- Bilateral non-exudative bulbar conjunctival injection
- Oral/mucosal changes (strawberry tongue, dry cracked lips, injection of mucosa/pharynx)
- Polymorphous exanthema (anything BUT vesicular)
- Cervical LAD >1.5 cm (nonsuppurative, usually unilateral)
- Extremity changes (palmar/plantar erythema/edema)
What are the 3 clinical phases of KD?
- Acute:
- Febrile phase, usually lasts 1-2 weeks
- Perineal desquamation - Subacute:
- Lasts ~2 weeks
- Fever resolves
- Desquamation (periungual–>entire hand/foot)
- Thrombocytosis
- Development of coronary aneurysms
- Highest risk of sudden death - Convalescent:
- All clinical signs have disappeared
- Lasts until the ESR returns to normal (6-8 weeks after onset)
List 3 clinical features of KD that are not in the diagnostic criteria
Irritability (aseptic meningitis) Meatitis, dysuria, sterile pyuria Oligo/polyarthritis Hepatitis Anterior uveitis Gallbladder hydrops
What percentage of untreated patients with KD develop coronary aneurysms and WHEN?
Untreated 25%
Treated <5%
Typically develop week 2-3 of illness