A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations

Overview

Journal Intern Med

Specialty General Medicine

Date 2018 Dec 21

PMID 30568124

Citations 4

Authors

Seiko Nakamichi

Tomoki Origuchi

Shoichi Fukui

Aya Yoda

Hiroshi Matsubara

Yuki Nagaura

Ryuta Nishikomori

Kuniko Abe

Kiyoshi Migita

Noriho Sakamoto

Atsushi Kawakami

Yoshiyuki Ozono

Takahiro Maeda

Affiliations

Soon will be listed here.

Abstract

We herein report a case of a 75-year-old woman who presented with a low-grade fever, repeated cold-induced urticaria, and painful leg edemas with neutrocytosis. Because her mother also had cold-induced urticaria and her skin lesions histologically showed neutrophilic dermatitis, we suspected that she had familial cold autoinflammatory syndrome, a subtype of cryopyrin-associated periodic syndromes. Sequencing of the NLRP3 and MEFV genes revealed that she carried both the p.A439V missense mutation and p.E148Q homozygous mutation, which is commonly detected in familial Mediterranean fever patients. The administration of colchicine reduced the frequency and severity of her skin rash and leg edema.

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