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| Onset age | Criteria and main suggestive clinical features | Laboratory findings | Therapy |
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FMF | First two decades of life and more rarely adulthood | Tel-Hashomer diagnostic criteria. (A) Major: (1) recurrent febrile episodes with serositis (peritonitis, pleurisy, and pericarditis) or synovitis; (2) AA amyloidosis in the absence of another predisposing disease; (3) good clinical response to daily administration of colchicine. (B) Minor: (1) recurrent febrile episodes; (2) erysipelas-like rash; (3) positive FMF family history in a first-degree relative. FMF diagnosis can be formulated on the basis of the presence of two major criteria or one major criterion and two minor ones; presence of one major and one minor criterion can point towards a probable FMF diagnosis. Secondary amyloidosis is not a rare event in patients not adequately treated or noncompliant patients. | Increased inflammatory markers (ESR, CRP, SAA, aptoglobin, and fibrinogen) Neutrophilic leukocytosis, anemia, thrombocythemia, and increased serum IgA and IgD levels; renal function tests and proteinuria/24 hours are needed (abnormal results can point towards secondary amyloidosis) MEFV analysis | Colchicine Anti-IL-1β agents Anti-TNF-α agents |
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TRAPS | Childhood and adolescence; adulthood | Recurrent inflammatory attacks (mean duration: 1–3 weeks) characterized by the following: fever, arthralgia; more rarely monooligoarthritis and/or tenosynovitis; periorbital edema, often associated with painful conjunctivitis, serpiginous erythematosus skin rash (migratory erythematous macules and/or painful plaques); polyserositis; abdominal pain, vomiting, diarrhoea, and constipation; chronic monocytic fasciitis with cramps and migratory myalgia; lymphadenopathy; headache, and fatigue, generalized malaise. Secondary amyloidosis is not rare. | Neutrophilic leukocytosis and thrombocythemia; renal function tests and proteinuria/24 hours are needed (abnormal results can point towards secondary amyloidosis) TNFRSF1A analysis | Corticosteroids Anti-IL-1β agents Anti-TNF-α agents |
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CAPS | First 6 months of life; in rare cases in adulthood | Fever, urticaria-like rash, conjunctivitis, and arthralgia. | Neutrophilic leukocytosis and thrombocythemia; increased inflammatory markers (ESR, CRP, SAA, aptoglobin, and fibrinogen); renal function tests and proteinuria/24 hours are needed (abnormal results can point towards secondary amyloidosis) NLRP3 and NLP12 analysis |
Anti-IL-1β agents |
First months of life | Fever, urticaria-like rash, conjunctivitis, episcleritis, arthralgia, sensorineural hearing loss, and AA amyloidosis. |
Perinatal onset | Fever, urticaria-like rash, anterior chronic uveitis, papillitis, optic nerve atrophy, arthralgia, chronic aseptic meningitis, sensorineural hearing loss, and AA amyloidosis. |
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Mevalonate kinase deficiency | Early childhood | Inflammatory recurrent attacks (mean duration of 3–7 days) characterized by the following: fever; gastrointestinal involvement (abdominal pain, vomiting, and/or diarrhoea); polymorphic skin rash; painful lymphadenopathy, mainly laterocervical; splenomegaly; arthralgia and/or arthritis; headache, fatigue, and generalized malaise. Secondary amyloidosis is a rare but possible event. | Leukocytosis; increased inflammatory markers (ESR, CRP, SAA, aptoglobin, and fibrinogen); possible increase of serum IgD level (>100 IU/mL) in any phase of the disease; increased urinary levels of mevalonic acid during febrile attacks MVK analysis | NSAIDs and corticosteroids (with partial remission of acute symptoms) Anti-IL-1β agents Anti-TNF-α agents |
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Granulomatous disorders | Childhood | BS: triad of granulomatous arthritis, dermatitis, uveitis. EOS: polyarthritis with ocular, cutaneous, and lymph node involvement. Histologic findings are suggestive of noncaseating granulomatous inflammation. | Increased inflammatory markers (ESR and CRP) NOD2/CARD15 analysis | Corticosteroids Anti-IL-1β agents Anti-TNF-α agents |
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Autoinflammatory pyogenic disorders | Early childhood | PAPAs: recurrent self-limited sterile pyogenic arthritis, pyoderma gangrenosum, and nodulocystic acne. MS: multifocal sterile osteomyelitis, dyserythropoietic anemia, and chronic neutrophilic dermatosis. DIRA: multifocal sterile osteomyelitis, periostitis, pustulosis with ichthyosis-like features, nail alterations, and risk of multiorgan failure. | Increased inflammatory markers (ESR and CRP) PSTPIP1, LPIN2, and IL1RN analysis | Corticosteroids Anti-IL-1β agents (DIRA) Anti-TNF-α agents (PAPAs) |
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