Tumor necrosis factor receptor associated periodic syndrome R21.x

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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Synonym(s)

Familial hibernian fever; TRAPS

History
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Bouroncle and Doan, 1957; Williamson et al., 1982

Definition
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Hereditary, inflammatory disease characterized by recurrent episodes of fever combined with abdominal discomfort, arthralgia, conjunctivitis and periorbital edema as well as a generalized maculo-papular exanthema.

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Etiopathogenesis
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Autosomal-dominantly inherited mutations of the TNFRSF1A gene (gene locus: 12p13.2) encoding the 55 kDa TNF receptor.

Manifestation
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Beginning of the first clinical manifestations is possible in the first weeks of life; late manifestations in adulthood after the age of 25 have been described; women are affected about twice as often as men.

Localization
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Located mainly on the trunk and extremities.

Clinical features
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Clinical symptoms with exanthema of rich red, flat, but also anular or serpiginous configured, non-scaly urticarial plaques, lasting 4-21 days and always accompanied by fever attacks; no itching. Often combined with painful conjunctivitis, arthralgias, chest pain, myalgia, amyloidosis.

Histology
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Superficial and deep lymphocytic perivascular dermatitis.

Differential diagnosis
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Familial Mediterranean fever; hyperimmunoglobulin D syndrome.

Therapy
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Non-steroidal anti-inflammatory drugs for mild episodes. Systemic glucocorticoids in severe inflammatory symptoms, including prompt improvement of symptoms. Good therapeutic successes (off-label use!) with Etanercept (Enbrel) 25 mg twice a week i.v. are described.

Literature
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Bouroncle BA, Doan CA (1957) 'Periodic fever': occurrence in five generations. On J Med 23: 502-506
Drenth JPH, van der Meer JWM (2001) Hereditary periodic fever. New Eng J Med 345: 1748-1757
Kusuhara K et al (2004) Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1Agene in a Japanese family. Eur J Pediatr 163: 30-32
Takada K et al (2003) Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 48: 2645-2651
Toro JR (2000) Tumor Necrosis Factor Receptor-Associated Periodic Syndrome. Arch Dermatol 136: 1487-1494
Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BHB, Toghill PJ (1982) Familial hibernian fever. Quart J Med 51: 469-480