Are You Confident of the Diagnosis? What you should be alert for in the history Familial Mediterranean Fever (FMF) is a monogenetic autoinflammatory disease that is characterized by periodic fevers and multisystemic inflammation. The diagnosis is frequently made clinically in countries where the disease is relatively common, although additional genetic testing is useful for confirmation.…
Are You Confident of the Diagnosis? Blau syndrome or early onset sarcoidosis is a rare familial condition that is inherited in autosomal dominant fashion, that presents with the triad of a granulomatous rash, arthritis and uveitis. There have been fewer than 200 cases recorded in the literature. Most patients present with a positive family history…
Are You Confident of the Diagnosis? Cryopyrin associated periodic syndrome (CAPS) is the new preferred name for urticarial familial syndrome with systemic features of inflammation. Previously, the following three unrelated syndromes had been described in the literature: familial cold urticaria (FCU), also called familial cold autoinflammatory syndrome [FCAS]), Muckle Wells syndrome (MWS), and neonatal onset…
Are You Confident of the Diagnosis? The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is a rare hereditary autoinflammatory syndrome. Autoinflammatory syndromes are characterized by lifelong recurrent and seemingly unprovoked inflammatory attacks. HIDS was first descibed in 1984 in the Netherlands with six patients with recurrent attacks of fever of unknown cause with high serum…
