Periodic fever syndrome

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Periodic Fever Syndrome Microchapters

Patient Information

Overview

Classification

Familial Mediterranean fever
Hyperimmunoglobulinemia D with recurrent fever
TNF receptor associated periodic syndrome
Cryopyrin-associated periodic syndrome
Periodic fever, aphthous stomatitis, pharyngitis and adenitis
Blau syndrome
Pyogenic sterile arthritis, pyoderma gangrenosum, acne

Causes

Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]

Synonyms and Keywords: Autoinflammatory syndrome

Overview

The periodic fever syndromes (also known as autoinflammatory syndromes) are a set of genetic disorders in which the mechanisms which initiate and control inflammation are disturbed leading to uncontrolled inflammation throughout the body. The syndromes are diverse but tend to cause fever, joint pains, abdominal pains and may lead to chronic complications such as amyloidosis.

Classification

Causes

Differential Diagnosis

  • Periodic fever syndromes should be differentiated from each other.
Category of Disease Diseases Signs and symptoms Laboratory findings
Inheritance pattern Fever duration Frequency of attacks Abdominal pain Arthralgia/Arthritis Chest pain Skin rash Myalgia/Body pain Diarrhea/Vomiting Neurologic manifestations Conjunctivitis Aphthous stomatitis Lymphadenopathy Splenomegaly Complete blood count (CBC) C- reactive protein (CRP)
Erythrocyte sedimentation rate (ESR) Other findings Genetic analysis

Autoinflammatory diseases

 Familial mediterranean fever[3][1]
  • 12-72 h
  • Weekly or 3-4 times/year
+ + + + + -/+ -/+ -/+ +
 Hyper IgD with recurrent fever[1][2][4]
  • 3-7 days
  • Every 2-12 weeks
+ + + + + - +/- +/- +/-
 TNF receptor-associated periodic syndrome[5][6]
  • 3-4 weeks
  • Variable
+ + -
  • Migrating rash with deep pain under the areas with the rash
  • Severe pain follows the rash path in a centrifugal pattern
- - + - +/- +
Muckle-Wells Syndrome[7][8]
  • 2-3 days
  • More common during cold seasons
+ + - + + + + - -
  • Cold-triggered attacks
Familial cold urticaria[1][9]
  • 12-24 hours, or longer
  • Common in cold seasons
- + - - - + +/- - -
  • Cold-triggered attacks
Neonatal onset multisystem inflammatory disease[1][10][11]
  • Continuous
  • Common in cold seasons
+ + + + + +/- +
Pyogenic sterile arthritis, pyoderma gangrenosum, acne (Papa syndrome)[12][13]
  • Variable
  • Variable
+/- +/- +/- +/- - - - - -
 Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA)[14][15][16]
  • Unkown
  • 3-6 days
  • Every 21-28 days
+ + - - + + - - + -
  • Unknown
Blau syndrome[17][18]
  • Intermittent or persistent daily fever
  • Variable
+/- + +/- + +/- - + +/- +


References


  1. 1.0 1.1 1.2 1.3 1.4 1.5 Kastner, D. L. (2005). "Hereditary Periodic Fever Syndromes". Hematology. 2005 (1): 74–81. doi:10.1182/asheducation-2005.1.74. ISSN 1520-4391.
  2. 2.0 2.1 2.2 Kraus, Courtney L; Culican, Susan M (2009). "Nummular keratopathy in a patient with Hyper-IgD Syndrome". Pediatric Rheumatology. 7 (1). doi:10.1186/1546-0096-7-14. ISSN 1546-0096.
  3. M. Medlej-Hashim, I. Petit, S. Adib, E. Chouery, N. Salem, V. Delague, M. Rawashdeh, I. Mansour, G. Lefranc, R. Naman, J. Loiselet, J. C. Lecron, J. L. Serre & A. Megarbane (2001). "Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations". European journal of human genetics : EJHG. 9 (11): 849–854. doi:10.1038/sj.ejhg.5200725. PMID 11781702. Unknown parameter |month= ignored (help)
  4. Mulders-Manders, C. M.; Simon, A. (2015). "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Seminars in Immunopathology. 37 (4): 371–376. doi:10.1007/s00281-015-0492-6. ISSN 1863-2297.
  5. Toro, Jorge R.; Aksentijevich, Ivona; Hull, Keith; Dean, Jane; Kastner, Daniel L. (2000). "Tumor Necrosis Factor Receptor–Associated Periodic Syndrome". Archives of Dermatology. 136 (12). doi:10.1001/archderm.136.12.1487. ISSN 0003-987X.
  6. Lachmann, H J; Papa, R; Gerhold, K; Obici, L; Touitou, I; Cantarini, L; Frenkel, J; Anton, J; Kone-Paut, I; Cattalini, M; Bader-Meunier, B; Insalaco, A; Hentgen, V; Merino, R; Modesto, C; Toplak, N; Berendes, R; Ozen, S; Cimaz, R; Jansson, A; Brogan, P A; Hawkins, P N; Ruperto, N; Martini, A; Woo, P; Gattorno, M (2014). "The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry". Annals of the Rheumatic Diseases. 73 (12): 2160–2167. doi:10.1136/annrheumdis-2013-204184. ISSN 0003-4967.
  7. Hawkins, Philip N.; Lachmann, Helen J.; Aganna, Ebun; McDermott, Michael F. (2004). "Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra". Arthritis & Rheumatism. 50 (2): 607–612. doi:10.1002/art.20033. ISSN 0004-3591.
  8. Ahmadi, Neda; Brewer, Carmen C.; Zalewski, Christopher; King, Kelly A.; Butman, John A.; Plass, Nicole; Henderson, Cailin; Goldbach-Mansky, Raphaela; Kim, H. Jeffrey (2011). "Cryopyrin-Associated Periodic Syndromes". Otolaryngology–Head and Neck Surgery. 145 (2): 295–302. doi:10.1177/0194599811402296. ISSN 0194-5998.
  9. Stych, Beate; Dobrovolny, Diana (2008). "Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives". Current Medical Research and Opinion. 24 (6): 1577–1582. doi:10.1185/03007990802081543. ISSN 0300-7995.
  10. Goldbach-Mansky, Raphaela; Dailey, Natalie J.; Canna, Scott W.; Gelabert, Ana; Jones, Janet; Rubin, Benjamin I.; Kim, H. Jeffrey; Brewer, Carmen; Zalewski, Christopher; Wiggs, Edythe; Hill, Suvimol; Turner, Maria L.; Karp, Barbara I.; Aksentijevich, Ivona; Pucino, Frank; Penzak, Scott R.; Haverkamp, Margje H.; Stein, Leonard; Adams, Barbara S.; Moore, Terry L.; Fuhlbrigge, Robert C.; Shaham, Bracha; Jarvis, James N.; O'Neil, Kathleen; Vehe, Richard K.; Beitz, Laurie O.; Gardner, Gregory; Hannan, William P.; Warren, Robert W.; Horn, William; Cole, Joe L.; Paul, Scott M.; Hawkins, Philip N.; Pham, Tuyet Hang; Snyder, Christopher; Wesley, Robert A.; Hoffmann, Steven C.; Holland, Steven M.; Butman, John A.; Kastner, Daniel L. (2006). "Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition". New England Journal of Medicine. 355 (6): 581–592. doi:10.1056/NEJMoa055137. ISSN 0028-4793.
  11. Kim, Hanna; Montealegre Sanchez, Gina A.; Chapelle, Dawn C.; Plass, Nicole; Dwyer, Andrew; Goldbach-Mansky, Raphaela; Hill, Suvimol (2014). "A80: Skeletal Features of Neonatal-Onset Multisystem Inflammatory Disease (NOMID) on Anakinra Treatment: Long-Term Follow-up". Arthritis & Rheumatology. 66: S113–S113. doi:10.1002/art.38496. ISSN 2326-5191.
  12. Yeon, Howard B.; Lindor, Noralane M.; Seidman, J.G.; Seidman, Christine E. (2000). "Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q". The American Journal of Human Genetics. 66 (4): 1443–1448. doi:10.1086/302866. ISSN 0002-9297.
  13. Schellevis, M. A.; Stoffels, M.; Hoppenreijs, E. P. A. H.; Bodar, E.; Simon, A.; van der Meer, J. W. M. (2011). "Variable expression and treatment of PAPA syndrome". Annals of the Rheumatic Diseases. 70 (6): 1168–1170. doi:10.1136/ard.2009.126185. ISSN 0003-4967.
  14. Vanoni, Federica; Federici, Silvia; Antón, Jordi; Barron, Karyl S.; Brogan, Paul; De Benedetti, Fabrizio; Dedeoglu, Fatma; Demirkaya, Erkan; Hentgen, Veronique; Kallinich, Tilmann; Laxer, Ronald; Russo, Ricardo; Toplak, Natasa; Uziel, Yosef; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco; Hofer, Michael (2018). "An international delphi survey for the definition of the variables for the development of new classification criteria for periodic fever aphtous stomatitis pharingitis cervical adenitis (PFAPA)". Pediatric Rheumatology. 16 (1). doi:10.1186/s12969-018-0246-9. ISSN 1546-0096.
  15. Cattalini, Marco; Soliani, Martina; Rigante, Donato; Lopalco, Giuseppe; Iannone, Florenzo; Galeazzi, Mauro; Cantarini, Luca (2015). "Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease". Mediators of Inflammation. 2015: 1–11. doi:10.1155/2015/570418. ISSN 0962-9351.
  16. Gattorno, M.; Caorsi, R.; Meini, A.; Cattalini, M.; Federici, S.; Zulian, F.; Cortis, E.; Calcagno, G.; Tommasini, A.; Consolini, R.; Simonini, G.; Pelagatti, M. A.; Baldi, M.; Ceccherini, I.; Plebani, A.; Frenkel, J.; Sormani, M. P.; Martini, A. (2009). "Differentiating PFAPA Syndrome From Monogenic Periodic Fevers". PEDIATRICS. 124 (4): e721–e728. doi:10.1542/peds.2009-0088. ISSN 0031-4005.
  17. Rosé, Carlos D.; Aróstegui, Juan I.; Martin, Tammy M.; Espada, Graciela; Scalzi, Lisabeth; Yagüe, Jordi; Rosenbaum, James T.; Modesto, Consuelo; Cristina Arnal, Maria; Merino, Rosa; García-Consuegra, Julia; Carballo Silva, María Antonia; Wouters, Carine H. (2009). "NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain". Arthritis & Rheumatism. 60 (6): 1797–1803. doi:10.1002/art.24533. ISSN 0004-3591.
  18. Kim, Woojoong; Park, Eujin; Ahn, Yo Han; Lee, Jiwon M.; Kang, Hee Gyung; Kim, Byung Joo; Ha, Il-Soo; Cheong, Hae Il (2016). "A familial case of Blau syndrome caused by a novelNOD2genetic mutation". Korean Journal of Pediatrics. 59 (Suppl 1): S5. doi:10.3345/kjp.2016.59.11.S5. ISSN 1738-1061.

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