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Clinical features suggesting CINCA and FCU in a Swedish family
Stefan Berg, Anders Fasth, Monika Leissner, Christina Åhs, Alison Bybee1, and Philip N. Hawkins1
1National Amyloidosis Centre, Department of Medicine, Royal Free and University College Medical School, London, NW3 2PF
We describe a 3 generation Swedish family, with a wide spectrum of features consistent with cryopyrin associated periodic syndrome (CAPS). The family includes a girl born in 2004, with clinical features of chronic, infantile, neurological, cutaneous and articular syndrome (CINCA). Her mother, 2 aunts and grandmother have clinical features consistent with familial cold urticaria (FCU). The affected child was noted to have symptoms at 6 months of age, comprising fever, a non-pruritic urticarial rash, chronic meningitis and an inflammatory arthropathy affecting the knees, elbows ankles, wrists and fingers. The knees and hands are severely affected. There has subsequently been slight growth retardation, and possibly impaired neurological development. Interestingly, she has improved with anti-TNF treatment (etanercept 5 mg/week), though treatment with anakinra remains under consideration. The mother developed symptoms at the age of 12 years, comprising a non-pruritic urticarial rash, arthralgia, myalgia and fatigue that follows cold exposure. The episodes each last for about 12 hours, and the attack frequency is variable, usually with just a few attacks per year. The other affected family members have symptoms that are similar to those of the mother. Mutational analysis of the NALP3/CIAS1 gene is underway, but results so far have been negative. This family is of interest in that the phenotypes of affected individuals appear to span the full spectrum of CAPS disease, and yet no mutation has yet been identified. Although a substantial proportion of children diagnosed to have CINCA do not have identifiable mutations, the reported literature is far less clear on the existence and nature of NALP3/CIAS1 mutation-negative FCU.
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