The differential diagnosis of arthritis in children
Transcript of The differential diagnosis of arthritis in children
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The differential diagnosis of arthritis in children
Alberto Martini
Direttore Scientifico
Istituto G Gaslini
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Arthralgia/arthritis
• Arthralgia: pain in a joint
• arthritis: joint swelling
and/or
articular pain and limitation of motion
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Diseases that can cause articular involvement
• Infectious
• Post-infectious
• Inflammatory
• Hematological
• Neoplastic
• Genetic
• Orthopedic
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The group of pieces
• Medical history and physical examination
characteristics of articular involvement
extra-articular symptoms
• Laboratory examination
• Imaging
• Follow-up
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Arthritis characteristics
• Persistent or transient • Number and type of joints • Symmetric or asymmetric • Intensity of articular pain • Fixed or migrant • Swelling>pain or viceversa • Sensitivity to NSAIDs • Morning stifness • Pain on loading • Presence of enthesopathy
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Diseases that can cause articular involvement
• Infectious
• Post-infectious
• Inflammatory
• Hematological
• Neoplastic
• Genetic
• Orthopedic
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Septic arthritis
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TB Disciitis
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Congenital syphilis
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Diseases that can cause articular involvement
• Infectious
• Post-infectious
• Inflammatory
• Hematological
• Neoplastic
• Genetic
• Orthopedic
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Viral arthritis
• Measles
• Rubella
• Varicella
• Parvovirus B19
• Epstein-Barr virus
• Herpesvirus
• Adenovirus
• Hepatitis B virus
• Coxsakie
• Mumps
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Reactive arthritis
• Yersinia, Shigella, Salmonella, Chlamydia infections
• HLA-B27 +
• Oligoarthritis (post-dissenteric arthritis) or the (rare) triad of arthritis, conjunctivitis and urethritis (Reiter syndrome)
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Lyme
disease Rheumatic
fever
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Diseases that can cause articular involvement
• Infectious
• Post-infectious
• Inflammatory
• Hematological
• Neoplastic
• Genetic
• Orthopedic
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SLE
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Dermatomyositis
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Systemic
scleroderma
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Henoch-Schoenlein synd. Kawasaki disease
Behcet
syndrome
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Takayasu arteritis
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Polyarteritis nodosa
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Wegener’s granulomatosis
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Crohn’s disease Sarcoidosis
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Diseases that can cause articular involvement
• Infectious
• Post-infectious
• Inflammatory
• Hematological
• Neoplastic
• Genetic
• Orthopedic
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Hemophilia Drepanocytosis
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Diseases that can cause articular involvement
• Infectious
• Post-infectious
• Inflammatory
• Hematological
• Neoplastic
• Genetic
• Orthopedic
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Leukemia
Neuroblastoma
Limphoma
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Hemangioma
Osteoid osteoma
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Diseases that can cause articular involvement
• Infectious
• Post-infectious
• Inflammatory
• Hematological
• Neoplastic
• Genetic
• Orthopedic
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Camptodactyly-arthritis syndrome
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Carpo-tarsal osteolysis
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Mucopolysaccharidosis Mucolipidosis
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Gaucher’s disease Farber’s disease
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Progressive pseudorheumatoid chondrodysplasia
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Autoinflammatory diseases
• Inherited diseases
• Onset often in pediatric age
• Recurrent bouts of seemingly unprovoked inflammation characterized by fever +/-:
- serositis
- synovitis
- rash
• Recurrent or persistent inflammation with specific organ involvement
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Cryopyrin associated periodic syndrome (CAPS): spectrum of disease
Familial cold autoinflammatory
syndrome (FCAS)
• Autosomal dominant
• Cold-induced – Rash
– Arthralgia
– Conjunctivitis
Muckle–Wells syndrome (MWS)
• Autosomal dominant
• Urticarial rash
• Sensorineural deafness
• AA amyloidosis (in 25% of patients) leading to renal failure
MILD SEVERE
NOMID/CINCA
• Sporadic
• Progressive chronic
meningitis
• Deafness
• Visual and intellectual
damage
• Destructive arthritis
NOMID/CINCA, neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome
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PAPA syndrome
pyogenic arthritis
acne
pyoderma gangrenosum
PSTPIP1/CD2BP1
mutations (interacts with
pyrin)
Autosomal dominant
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Blau syndrome
granulomatous
polyarthritis
panuveitis
exanthema
mutations of NOD2
(intracellular sensor of
bacteria)
Autosomal dominant
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9 patients
24 Patients (50%
fulfilling the
diagnostic criteria for
PAN)
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Navon Elkan P et al NEJM 2014
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Most common clinical features
• Recurrent fevers
• Livedo reticularis
• Early-onset, recurrent hemorragic strokes
• High ESR and CRP
• Pathological findings consistent with PAN
• Impressive efficacy of anti-TNF treatment
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Clinical features
• Mutation common among persons of Georgian Jewish ancestry where mild cases were often recognized in patients only after severe disease developed in a relative
• Clinical manifestations range from early-onset multiple strokes to limited cutaneous lesions in advanced adult age
• Mutations in the ADA2 gene may be more common than expected and may be associated with a larger spectrum of disorders. This suggests that in the coming years the field of vasculits could be revolutionized by genetic studies.
Navon Elkan et al NEJM 2014
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N Engl J Med. 2014;371:507-18
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In patients with SAVI, constitutively activated STING leads to increased
transcription of the type 1 interferon gene, IFNB1, which encodes interferon-β.
Liu et al NEJM 2014
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Nature Genetics January 2016
Nature Genetics June 2015
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CRMO
Multifocal, osteomyelitis-
like, aseptic, bone lesions
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Diseases that can cause articular involvement
• Infectious
• Post-infectious
• Inflammatory
• Hematological
• Neoplastic
• Genetic
• Orthopedic
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Epiphysiolysis Bone aseptic necrosis
Plant thorn synovitis
Perthes disease
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Joint hyperlaxity
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Fibromyalgia
Reflex sympathetic dystrophy
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Pachydermodactyly
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