Abdominal pain and fever in a patient with familial periodic fever: an extremely rare mutation of the TNF receptor superfamily member 1A gene

https://doi.org/10.4081/joper.2018.98

Authors

  • Michele Marini | marini.michele2@gmail.com Department of Emergency and General and Transplant Surgery, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Emanuele Rausa Department of Emergency and General and Transplant Surgery, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Federico Coccolini Department of Emergency and General and Transplant Surgery, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Federica Bianco Department of Emergency and General and Transplant Surgery, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Cecilia Merli Department of Emergency Medicine, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Salvatore Greco Department of Gastroenterology and Endoscopy, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Antonio Luca Brucato Department of Internal Medicine, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Lorena Mosca Medical Genetics Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
  • Alessandra Surace Department of Radiology, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Sandro Sironi Department of Radiology, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Luca Campanati Department of Emergency and General and Transplant Surgery, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Luca Ansaloni Department of Emergency and General and Transplant Surgery, Papa Giovanni XXIII Hospital, Bergamo, Italy.

Abstract

Periodic fever syndromes (PFSs) are a clinically inhomogeneous group of diseases based on peculiar genetic mutations. PFSs have to be suspected in young patients presenting with recurrent attacks of abdominal pain, skin rashes, arthritis, myalgia and fever as soon as more prevalent diseases have been excluded. An unconsidered hypothesis of PFSs may lead in delaying the diagnosis and unnecessary medical and surgical treatments. In this article, we described the case of a young man presented to our attention due to recurrent abdominal pain and fever caused by TNF-receptor-associated periodic syndrome (TRAPS) sustained by the TNFRSF1A gene mutation.

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Published
2018-08-07
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Issue
Section
Case Reports
Keywords:
Serositis, periodic fever syndrome, TNF-receptor-associated periodic syndrome.
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How to Cite
1.
Marini M, Rausa E, Coccolini F, Bianco F, Merli C, Greco S, Brucato AL, Mosca L, Surace A, Sironi S, Campanati L, Ansaloni L. Abdominal pain and fever in a patient with familial periodic fever: an extremely rare mutation of the TNF receptor superfamily member 1A gene. J Peritoneum [Internet]. 2018Aug.7 [cited 2020Jul.15];3(1). Available from: http://jperitoneum.org/index.php/joper/article/view/98

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