Clinical case of patient with Cryopyrin-associated Periodic Syndrome (Muckle-Wells syndrome) and systemic lupus erhythematodes

Abstract

Muckle-Wells syndrome is a cryopyrin-associated periodic syndrome with an autosomal dominant transmission pattern. The disease characterized by episodes of step move. We present a clinical case a woman of 34-years old with cryopyrin-associated periodic syndrome (Muckle-Wells syndrome) and systemic lupus erhythematodes (SLE). Patient is a heterozygous carrier of a 3-nucleotide duplication in exon 3 of the NLRP3 gene (c.1315_1317dupGCG), inserting an alanine between amino acid positions 439 and 440 (p.Ala439dup). This mutation is a characteristic with Muckle-wells syndrome. From the clinical examination she has clinical symptoms of SLE with moderate activity from SLEDAI = 9 points (“malar rash”, arthritis, leucopenia with lymphopenia, elevated levels of ANA-antibodys and anti-dsDNA-antibodys). Patient was treatment with methylprednisolone 12 mg daily, methotrexate 15 mg weekly, colchicin 2 time of 0,5 mg daily. Over 3 months patient has partial improvement of symptoms without full reduction. On the moment patient lives in Germany and has treatment with Anakinra with excellent results and good quality of life. In the literature is not found other with connection between cryopyrin-associated periodic syndrome (Muckle-Wells syndrome) and connective tissue disease.