Unmasking Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): diagnostic pitfalls of de novo mutations.

First author: Yixiang Yves-Jean Zhu

Journal: The Journal of Allergy and Clinical Immunology: In Practice

Reference: https://doi.org/10.1016/j.jaip.2025.07.017

Tumor necrosis factor receptor–associated periodic syndrome (TRAPS) is a rare genetic autoinflammatory disease associated with pathogenic variants in the TNFRSF1A gene. It usually runs in families through autosomal dominant inheritance, but can also appear sporadically when a de novo vriant occurs. We report 14 cases of TRAPS due to de novo variants, including 2 new French patients and 12 previously published cases. These patients faced a median diagnostic delay of 13 years, with recurrent flares lasting around 11 days, typically involving fever, abdominal pain, and joint pain. None presented with migratory myalgias or periorbital edema. The rarity of the disease, the nonspecific symptoms, and the absence of family history make the diagnosis particularly challenging. Clinicians should be aware that long-lasting unexplained inflammatory flares point to TRAPS, even in patients without a family history.

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Efficacy of canakinumab for mosaic tumor necrosis factor receptor associated periodic syndrome TRAPS)

Alexandre Terréa,1, Mathieu Vautierb,1, Jean-Emmanuel Kahnc,

Sophie Georgin-Laviallea,2,*, Guilaine Boursierd,2

Introduction:

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is one of the first monogenic autoinflammatory diseases to be described [1]. TRAPS is a dominant disease due to mutations in the TNFRSF1A gene and affects patients from all regions of the world [2].

The main clinical features are prolonged recurrent inflammatory flares associated with fever, abdominal pain, myalgia and oedema. Most patients have a germline mutation, but 4 patients with somatic (i.e.post-zygotic) mutations have been described [3–6]. Canakinumab, a monoclonal anti-interleukin-1 antibody, has been reported to be effective in preventing attacks and controlling inflammation in germinal TRAPS. Indeed, canakinumab is the only molecule that has shown efficacy in a randomized trial [7]. One case associated with somatic mutation reported efficacy of canakinumab for somatic TRAPS [4]. Here we report the efficacy of canakinumab for the treatment of 2 patients followed in the French referral center for adult auto-inflammatory disease (CEREMAIA).

https://doi.org/10.1016/j.ejim.2024.01.034

Received 11 December 2023; Received in revised form 22 January 2024; Accepted 25 January 2024

0953-6205/© 2024 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.