Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle‐Wells syndrome?

Abstract

The term Muckle‐Wells syndrome (MWS) describes an autosomal dominant disorder characterised by various combinations of urticaria, sensorineural deafness, amyloidosis, arthralgia and skeletal abnormalities. We describe a family with nephropathy and several symptoms of MWS, but no evidence of deafness or amyloidosis. Since nephropathy without amyloidosis has never been reported in MWS, but deafness is a feature of all reported pedigrees, we conclude that members of this family have a previously unreported inherited predisposition to urticaria, arthralgia and nephropathy which is distinct from the MWS phenotype.

Muckle–Wells syndrome: Report of six cases with hyperpigmented sclerodermoid skin lesions

“…Moreover, Throssel et al. 9 have reported variants of MWS with urticaria, arthralgia and nephropathy without amyloidosis or deafness.…”

Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria

“…There were no signs of amyloidosis in this patient given the absence of proteinuria, subcutaneous tissue biopsy without amyloid accumulation and cardiac MRI without signs of amyloidosis. Search of literature reveals one more description of a family with a presumed diagnosis of MSW based on microscopic haematuria, periodic arthralgia, urticaria, abdominal pain and without deafness or amyloidosis (no genetic testing in this family) 5…”