Table 3.

Hereditary Disorders of Interest in the Differential Diagnosis of TNF Receptor-Associated Periodic Fever Syndrome (TRAPS)

GeneDisorderMOIKey Features
MEFV Familial Mediterranean fever (FMF)AR
(AD 1)		Recurrent short episodes of inflammation & serositis incl fever, peritonitis, synovitis, pleuritis, & (rarely) pericarditis
NLRP3 Familial cold autoinflammatory syndrome 1 (FCAS1) (OMIM 120100)ADCold-induced attacks of fever, rash, & arthralgia but no deafness or amyloidosis
Muckle-Wells syndrome (MWS) (OMIM 191900)ADUrticaria, deafness, & renal amyloidosis
Chronic infantile neurologic cutaneous & articular (CINCA) / neonatal-onset multisystem inflammatory disease (NOMID) (OMIM 607115)ADNeonatal onset of persistent & migratory skin rashes, chronic meningitis, recurrent fevers, & progressive hearing loss w/o renal amyloidosis
MVK Hyperimmunoglobulin D & periodic fever syndrome (HIDS) (OMIM 260920)ARRecurrent attacks of fever, abdominal pain, & arthralgia often brought on by stress or vaccination
RIPK1 Cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome (OMIM 618852)ADPersistent fevers, lymphadenopathy, oral ulcers, tonsillitis, headaches, & hepatomegaly/splenomegaly
TTR Hereditary transthyretin amyloidosis ADAmyloidosis w/progressive neuropathy, cardiomyopathy, nephropathy, & vitreous opacities; more likely than TRAPS to have CNS amyloid

AD = autosomal dominant; AR = autosomal recessive; CNS = central nervous system; MOI = mode of inheritance

1.

FMF is usually inherited in an autosomal recessive manner, although some studies have suggested that some heterozygotes manifest a spectrum of findings from classic FMF to mild FMF.

From: TNF Receptor-Associated Periodic Fever Syndrome

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