Familial case of Muckle-Wells syndrome in the Russian population: a long way to the diagnosis

Results Case 1 Female patient of 17 years old (daughter) has been examined in the Institute since the age of 8 (2004). Since the age of 10 months she has complained for periodic fever, transient macular and papular rash on different body areas without itching, arthralgia/arthritis without joint dysfunction, headache, abdominal pain, sore throat, nodal fever episodes, ulcerative stomatitis and genital ulcers. The patient has had a history of uveitis and frequent conjunctivitis since 8 years of age. Lucid asymptomatic intervals have been observed. Differential diagnosis: systemic juvenile arthritis, systemic vasculitis, periodic fever syndromes (FMF, TRAPS), Behcet’s disease since 2006. Case 2 Female patient of 40 years old (mother) has been examined in the Institute since 31 years of age (2004). She has complained for periodic arthralgia/arthritis without joint dysfunction since 7 years. Since 17 the patient has developed fever, transient macular and papular rash on different body areas without itching, sore throat, nodal fever and ulcerative stomatitis episodes, genital and rectal ulcers, abdominal pains and frequent conjunctivitis. Sensorineural hearing loss with progressive deafness has developed since 2000 (27 years). Differential diagnosis: acute rheumatic fever, Still’s disease of adults, systemic lupus erythematosis, periodic fever syndromes (TRAPS), Behcet’s disease since 2006. Acute phase markers (ESR, CRP, leukocytosis) are permanently increased in both patients. HLAB51 is negative. Treatment with antibiotics, NSAID, diseasemodifying anti-rheumatic drugs and colchicine had no effect and glucocorticoid therapy lead to temporary improvement. Molecular genetic test revealed NLRP3 (CIAS1) pThr350Met gene mutation in mother and daughter in heterozygous state. CAPS – MWS syndrome was diagnosed in 2013.