Periodic fever syndrome: Difference between revisions

	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

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Revision as of 22:21, 25 September 2019

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.

Causes

Classification

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)
		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^[1]^[2]	Autosomal recessive/dominant	12-72 h	Weekly or 3-4 times/year	+	+	+	erysipelas-like erythema	+	+	Headache	-/+	-/+	-/+	+	Leukocytosis	↑	↑	High risk for amyloidosis	Mutation in MEFV gene
	Hyper IgD with recurrent fever^[2]^[3]^[4]	Autosomal recessive	3-7 days	Every 2-12 weeks	+	+	+	Diffuse maculopapular rash Polymorphous rash	+	+	Headache	-	+/-	+/-	+/-	Leukocytosis	↑	↑	Elevated srum level of IgD & IgA Chronic mevalonic aciduria	Mutation in MVK gene
	TNF receptor-associated periodic syndrome^[5]^[6]	Autosomal dominant	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	-	-	Headache	+	-	+/-	+	Leukocytosis	↑	↑	Periorbital edema	Mutation in TNFRSF1A gene
	Muckle-Wells Syndrome^[7]^[8]	Autosomal dominant	2-3 days	More common during cold seasons	+	+	-	Urticaria-like rash	+	+	Headache	+	+	-	-	Leukocytosis	↑	↑	Cold-triggered attacks	Mutation in NLRP3 gene
	Familial cold urticaria^[2]^[9]	Autosomal dominant	12-24 hours, or longer	Common in cold seasons	-	+	-	Urticaria-like rash	-	-	Headache Mild hearing loss	+	+/-	-	-	Leukocytosis	↑	↑	Cold-triggered attacks	Mutation in NLRP3 gene
	Neonatal onset multisystem inflammatory disease^[2]^[10]^[11]	Autosomal dominant	Continuous	Common in cold seasons	+		+	Urticaria-like rash	+	+	Headache Aseptic meningitis Papilledema Seizure sensorineural hearing loss	+	+/-	Generalized lymphadenopathy	+	Leukocytosis	↑	↑	Intellectual disability Elevated levels of Immunoglobulins Cold-triggered attacks	Mutation in NLRP3 gene
	Pyogenic sterile arthritis, pyoderma gangrenosum, acne (Papa syndrome)^[12]^[13]	Autosomal dominant	Variable	Variable	+/-	Destructive arthritis	+/-	Pyoderma gangrenosum ulcerative lesions Severe cystic acne	+/-	+/-	-	-	-	-	-	Leukocytosis	↑	↑	High neutrophilic content of synovial fluid Negative cultures of bone and skin	Mutation in PSTPIP1 gene
	Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA)^[14]^[15]^[16]	Unkown	3-6 days	Every 21-28 days	+	+	-	-	+	+	-	-	+	Cervical lymphadenopathy	-	Leukocytosis	↑	↑	Culture negative exudative pharyngitis is a classic finding	Unknown
	Blau syndrome^[17]^[18]	Autosomal dominant	Intermittent or persistent daily fever	Variable	+/-	+	+/-	scaly plaques Non-caseating granulomatous dermatitis in Biopsy	+	+/-	Cranial neuropathies Visual problems in 80% Peripheral neuropathies	-	+	+/-	+	Leukocytosis	↑	↑	Ophthalmologic manifestations are common	Mutation in NOD2 gene

References

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↑ 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)
↑ ^2.0 ^2.1 ^2.2 ^2.3 Kastner, D. L. (2005). "Hereditary Periodic Fever Syndromes". Hematology. 2005 (1): 74–81. doi:10.1182/asheducation-2005.1.74. ISSN 1520-4391.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.

[1] 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)

[Kastner2005-2] 2.0 ^2.1 ^2.2 ^2.3 Kastner, D. L. (2005). "Hereditary Periodic Fever Syndromes". Hematology. 2005 (1): 74–81. doi:10.1182/asheducation-2005.1.74. ISSN 1520-4391.

[KrausCulican2009-3] 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.

[Mulders-MandersSimon2015-4] 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.

[ToroAksentijevich2000-5] 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.

[LachmannPapa2014-6] 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.

[HawkinsLachmann2004-7] 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.

[AhmadiBrewer2011-8] 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.

[StychDobrovolny2008-9] 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.

[Goldbach-ManskyDailey2006-10] 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.

[KimMontealegre_Sanchez2014-11] 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.

[YeonLindor2000-12] 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.

[SchellevisStoffels2011-13] 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.

[VanoniFederici2018-14] 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.

[CattaliniSoliani2015-15] 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.

[GattornoCaorsi2009-16] 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.

[RoséAróstegui2009-17] 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.

[KimPark2016-18] 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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@@ Line 6: / Line 6: @@
 ==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, [[arthralgia|joint pains]], [[abdominal pain]]s and may lead to chronic complications such as [[amyloidosis]].
 ==Causes==
+==Classification==
 *[[Familial Mediterranean fever]]
 *[[Hyperimmunoglobulinemia D with recurrent fever]]