Beneficial response to anakinra and thalidomide in Schnitzler's syndrome

Abstract

Anakinra proved to be effective in three patients with Schnitzler's syndrome. This treatment is preferable to thalidomide, which induced a complete remission in one of our patients, as it has fewer side effects.

Time-course analysis of serum hepcidin, iron and cytokines in a C282Y homozygous patient with Schnitzler's syndrome treated with IL-1 receptor antagonist

“…The complaints respond well to treatment with IL1ra. 12 A biochemically penetrating C282Y homozygous patient is typically characterized by elevations of both serum ferritin and serum iron levels. 15 In the patient presented herein the ongoing and periodically exacerbating inflammation increased serum ferritin levels and lowered TS, at times leading to a pattern of serum iron indices less pathognomonic for HH.…”

“…11,12 Serum ferritin levels were around 200 µg/L in the days before treatment, stayed between 200 and 250 µg/L during treatment and decreased thereafter to 140, 80 and 22 µg/L, at days 13, 17 and 36, respectively. Immediately after the start of IL-1ra all complaints disappeared.…”

“…variant Schnitzler's syndrome, 11 with the potent anti-inflammatory cytokine interleukin-1 receptor antagonist (anakinra). 12 We demonstrate the existence of an HFE-independent cytokine-hepcidin axis in the development of hypoferremia and anemia of inflammation. Our observations further suggest that chronic inflammation countermands iron accumulation in C282Y-homozygotes.…”

The spectrum of autoinflammatory diseases: recent bench to bedside observations

“…Although CIAS1 mutations have not been detected in Schnitzler syndrome, anakinra therapy has been associated with a dramatic clinical response [52]. The disease spectrum of systemic onset juvenile inflammatory arthritis (SOJIA) and adult onset Still's disease (AOSD) has been suspected to belong to the group of autoinflammatory diseases, with response to anakinra notable in a subset of these patients [53].…”

Schnitzler syndrome: an under-diagnosed clinical entity

“…5 In the absence of a specific diagnosis, these patients suffer significant morbidity due to their symptoms. Given that therapy with the interleukin 1 (IL-1) receptor antagonist anakinra is associated with rapid and long-lasting improvement in symptomatology, [6][7][8][9] higher awareness of this syndrome is required. To address the potential problems associated with referral bias, as well as to test the hypothesis that the condition is often unrecognized, we performed a single institution analysis of patients with an established diagnosis of Schnitzler syndrome as well as a search for other patients who met the diagnostic criteria but in whom the diagnosis had not been established.…”