Schnitzler syndrome

Infobox Disease
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DiseasesDB = 31345
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eMedicineSubj = derm
eMedicineTopic = 489
MeshID = D019873

Schnitzler syndrome is a rare disease characterised by chronic hives (urticaria) and periodic fever, bone pain and joint pain (sometimes with joint inflammation), weight loss, malaise, fatigue, swollen lymph glands and enlarged spleen and liver.cite journal |author=de Koning HD, Bodar EJ, van der Meer JW, Simon A |title=Schnitzler syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment |journal=Seminars in arthritis and rheumatism |volume=37 |issue=3 |pages=137–48 |year=2007 |month=December |pmid=17586002 |doi=10.1016/j.semarthrit.2007.04.001 |url=http://linkinghub.elsevier.com/retrieve/pii/S0049-0172(07)00073-X]

The urticarial rash is non-itching in more than half of cases, which is unusual for hives. It is most prominent on the trunk, arms and legs, sparing the palms, soles, head and neck. Associated angioedema has been reported in a few patients. A review of 94 cases found a mean age at onset of 51 years, and only four patients developed symptoms before the age of 35. The cause and disease mechanism of Schnitzler syndrome remain largely unknown.

Schnitzler syndrome is considered an autoimmune disorder. Chronic hives and a monoclonal gammopathy have been proposed as the major criteria, while the others represent minor criteria.cite journal |author=Lipsker D, Veran Y, Grunenberger F, Cribier B, Heid E, Grosshans E |title=The Schnitzler syndrome. Four new cases and review of the literature |journal=Medicine |volume=80 |issue=1 |pages=37–44 |year=2001 |month=January |pmid=11204501 |doi= |url=http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=0025-7974&volume=80&issue=1&spage=37]

Diagnosis

Blood tests show a high concentration of specific gamma-globulins (monoclonal gammopathy) of the IgM type. It almost always has light chains of the κ-type. A variant in which IgG is raised has been described, which appears to be ten times as rare. The immunoglobulins may show up in the urine as Bence Jones proteins. Signs of inflammation are often present: these include an increased white blood cell count (leukocytosis) and a raised erythrocyte sedimentation rate and C-reactive protein. There can be anemia of chronic disease. Bone abnormalities can be seen on radiological imaging (often increased density or osteosclerosis) or biopsy.

Because it is such a rare condition (less than 100 cases reported in the literature worldwide before 2008), it is important to rule out other conditions which can cause periodic fevers, paraproteins or chronic hives. These include (and are not limited to) auto-immune or -inflammatory disorders such as adult-onset Still's disease, angioedema, hematological disorders such as lymphoma or monoclonal gammopathy of undetermined significance, other causes of hives, cryoglobulinemia, mastocytosis, chronic neonatal onset multisystem inflammatory disease or Muckle-Wells syndrome.

Prognosis

The life span in patients with Schnitzler syndrome has not been shown to differ much from the general population. Careful follow-up is advised, however. A significant proportion of patients develops a lymphoproliferative disorder as a complication, most commonly Waldenström's macroglobulinemia. This may lead to symptoms of hyperviscosity syndrome. AA amyloidosis has also been reported in people with Schnitzler syndrome.

Treatment

Antihistamines are not effective in treating the hives in this condition. It may respond to immunosuppressant drugs such as corticosteroids, cyclooxygenase inhibitors, interferon alpha, interleukin 1 receptor antagonists (Anakinra),cite journal |author=de Koning HD, Bodar EJ, Simon A, van der Hilst JC, Netea MG, van der Meer JW |title=Beneficial response to anakinra and thalidomide in Schnitzler's syndrome |journal=Annals of the rheumatic diseases |volume=65 |issue=4 |pages=542–4 |year=2006 |month=April |pmid=16096327 |doi=10.1136/ard.2005.045245 |url=http://ard.bmj.com/cgi/pmidlookup?view=long&pmid=16096327] colchicine, cyclosporine or thalidomide. The hives may respond to treatment with PUVA, and the bone pain may respond to bisphosphonates.

History

The disease is named after the French dermatologist L. Schnitzler who first described this syndrome in 1972.L. Schnitzler, Lésions urticariennes chroniques permanentes (érythème pétaloïde?) Cas cliniques No 46 B, J Dermatol Angers (1972) Abstract 46.]

Footnotes