Tumor necrosis factor receptor-associated periodic syndrome: Difference between revisions
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* Also: |
* Also: |
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** Myalgias and limb pain, sometimes migratory (59 to 85%) |
** Myalgias and limb pain, sometimes migratory (59 to 85%) |
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− | ** Abdominal symptoms (36 to 74%), including pain and vomiting (18%) |
+ | ** Abdominal symptoms (36 to 74%), including pain and [[vomiting]] (18%) |
− | ** Rash (55 to 63%), which is single or multiple erythematous patches that may spread downward |
+ | ** [[Rash]] (55 to 63%), which is single or multiple erythematous patches that may spread downward |
− | ** Lymphadenopathy (25%) |
+ | ** [[Lymphadenopathy]] (25%) |
− | ** Headache (20 to 25%) |
+ | ** [[Headache]] (20 to 25%) |
** Chest pain (14 to 25%) |
** Chest pain (14 to 25%) |
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− | ** Conjunctivitis (18 to 20%) |
+ | ** [[Conjunctivitis]] (18 to 20%) |
** Periorbital edema (9 to 20%) |
** Periorbital edema (9 to 20%) |
||
− | ** Pharyngitis, with or without aphthae (9 to 18%) |
+ | ** [[Pharyngitis]], with or without aphthae (9 to 18%) |
− | ** Monoarticular arthritis (13%) |
+ | ** [[Monoarticular arthritis]] (13%) |
− | ** Hepatomegaly and/or splenomegaly (5 to 10%) |
+ | ** [[Hepatomegaly]] and/or [[splenomegaly]] (5 to 10%) |
** Occasionally, recurrent [[pericarditis]] |
** Occasionally, recurrent [[pericarditis]] |
||
− | ** Secondary AA amyloidosis (10 to 15%) |
+ | ** Secondary AA [[amyloidosis]] (10 to 15%) |
==Diagnosis== |
==Diagnosis== |
||
− | * Presence of a confirmatory TNFRSF1A genotype |
+ | * Presence of a confirmatory TNFRSF1A genotype and at least 1 among the following: |
** Duration of episodes ≥7 days |
** Duration of episodes ≥7 days |
||
− | ** Myalgia |
+ | ** [[Myalgia]] |
** Migratory rash |
** Migratory rash |
||
− | ** Periorbital |
+ | ** Periorbital edema |
** Relatives affected |
** Relatives affected |
||
* OR |
* OR |
||
− | * Presence of a not confirmatory TNFRSF1A genotype |
+ | * Presence of a not confirmatory TNFRSF1A genotype and at least 2 among the following: |
** Duration of episodes ≥7 days |
** Duration of episodes ≥7 days |
||
− | ** Myalgia |
+ | ** [[Myalgia]] |
** Migratory rash |
** Migratory rash |
||
− | ** Periorbital |
+ | ** Periorbital edema |
** Relatives affected |
** Relatives affected |
||
[[Category:Periodic fever syndromes]] |
[[Category:Periodic fever syndromes]] |
Latest revision as of 15:58, 12 July 2023
Background
- A periodic fever syndrome caused by autoimmunity
- Autosomal dominant with incomplete penetrance
- Rare, described in all ethnic groups
- Usually presents in childhood, though 10% of cases are in those over age 30 years
Clinical Manifestations
- Fever over 38 degrees over months to years in the absence of infection
- Typically occur every five to six weeks, and last five days to 2 weeks or longer
- Also:
- Myalgias and limb pain, sometimes migratory (59 to 85%)
- Abdominal symptoms (36 to 74%), including pain and vomiting (18%)
- Rash (55 to 63%), which is single or multiple erythematous patches that may spread downward
- Lymphadenopathy (25%)
- Headache (20 to 25%)
- Chest pain (14 to 25%)
- Conjunctivitis (18 to 20%)
- Periorbital edema (9 to 20%)
- Pharyngitis, with or without aphthae (9 to 18%)
- Monoarticular arthritis (13%)
- Hepatomegaly and/or splenomegaly (5 to 10%)
- Occasionally, recurrent pericarditis
- Secondary AA amyloidosis (10 to 15%)
Diagnosis
- Presence of a confirmatory TNFRSF1A genotype and at least 1 among the following:
- Duration of episodes ≥7 days
- Myalgia
- Migratory rash
- Periorbital edema
- Relatives affected
- OR
- Presence of a not confirmatory TNFRSF1A genotype and at least 2 among the following:
- Duration of episodes ≥7 days
- Myalgia
- Migratory rash
- Periorbital edema
- Relatives affected