Cryopyrin-associated periodic syndrome pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
The exact pathogenesis of cryopyrin-associated periodic syndrome is not fully understood. However, it occurs due to the dysregulation of innate immune system. NLRP3 gene encoding a protein called cryopyrin involved in the pathogenesis of this disorder. | The exact [[pathogenesis]] of cryopyrin-associated periodic syndrome is not fully understood. However, it occurs due to the dysregulation of [[innate immune]] system. NLRP3 [[gene]] encoding a [[protein]] called cryopyrin involved in the [[pathogenesis]] of this [[disorder]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
===Physiology=== | ===Physiology=== | ||
*Inflammation is the complex immunological response of vascular tissues to harmful stimuli. Normally, it protects the organism from the injurious stimuli as well as initiates the healing process for the tissue. | *[[Inflammation]] is the complex [[immunological]] response of [[vascular]] [[tissues]] to harmful stimuli. Normally, it protects the organism from the injurious stimuli as well as initiates the healing process for the [[tissue]]. | ||
===Pathogenesis=== | ===Pathogenesis=== | ||
*The exact pathogenesis of the cryopyrin-associated periodic syndrome is not completely understood. However, it occurs due to the dysregulation of innate immune system.<ref name="HoffmanSimon2009">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Simon|first2=Anna|title=Recurrent febrile syndromes—what a rheumatologist needs to know|journal=Nature Reviews Rheumatology|volume=5|issue=5|year=2009|pages=249–256|issn=1759-4790|doi=10.1038/nrrheum.2009.40}}</ref> | *The exact [[pathogenesis]] of the cryopyrin-associated periodic syndrome is not completely understood. However, it occurs due to the dysregulation of [[innate immune]] system.<ref name="HoffmanSimon2009">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Simon|first2=Anna|title=Recurrent febrile syndromes—what a rheumatologist needs to know|journal=Nature Reviews Rheumatology|volume=5|issue=5|year=2009|pages=249–256|issn=1759-4790|doi=10.1038/nrrheum.2009.40}}</ref> | ||
*Mutations in the NLRP3 gene cause abnormal activation of the inflammasome, the molecular platform that plays a pivotal role in inflammation. | *[[Mutations]] in the NLRP3 [[gene]] cause abnormal activation of the inflammasome, the molecular platform that plays a pivotal role in [[inflammation]]. | ||
*This leads to the overexpression of the key proinflammatory cytokine, interleukin (IL)-1β. | *This leads to the overexpression of the key proinflammatory [[cytokine]], [[interleukin]] (IL)-1β. | ||
*Excessive amounts of IL-1β triggers the uncontrolled release of inflammatory cytokines, which act synergistically with IL-1β inducing the inflammatory process. This process is mainly mediated via the recruitment and activation of neutrophils. | *Excessive amounts of IL-1β triggers the uncontrolled release of [[inflammatory]] [[cytokines]], which act synergistically with IL-1β inducing the [[inflammatory]] process. This process is mainly mediated via the recruitment and activation of [[neutrophils]]. | ||
==Genetics== | ==Genetics== | ||
*Cryopyrin-associated periodic syndrome is transmitted in the autosomal dominant pattern.<ref name="HoffmanMueller2001">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Mueller|first2=James L.|last3=Broide|first3=David H.|last4=Wanderer|first4=Alan A.|last5=Kolodner|first5=Richard D.|title=Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome|journal=Nature Genetics|volume=29|issue=3|year=2001|pages=301–305|issn=1061-4036|doi=10.1038/ng756}}</ref><ref name="ManthiramZhou2017">{{cite journal|last1=Manthiram|first1=Kalpana|last2=Zhou|first2=Qing|last3=Aksentijevich|first3=Ivona|last4=Kastner|first4=Daniel L|title=The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation|journal=Nature Immunology|volume=18|issue=8|year=2017|pages=832–842|issn=1529-2908|doi=10.1038/ni.3777}}</ref> | *Cryopyrin-associated periodic syndrome is transmitted in the [[autosomal dominant]] pattern.<ref name="HoffmanMueller2001">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Mueller|first2=James L.|last3=Broide|first3=David H.|last4=Wanderer|first4=Alan A.|last5=Kolodner|first5=Richard D.|title=Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome|journal=Nature Genetics|volume=29|issue=3|year=2001|pages=301–305|issn=1061-4036|doi=10.1038/ng756}}</ref><ref name="ManthiramZhou2017">{{cite journal|last1=Manthiram|first1=Kalpana|last2=Zhou|first2=Qing|last3=Aksentijevich|first3=Ivona|last4=Kastner|first4=Daniel L|title=The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation|journal=Nature Immunology|volume=18|issue=8|year=2017|pages=832–842|issn=1529-2908|doi=10.1038/ni.3777}}</ref> | ||
*NLRP3 gene encoding a protein called cryopyrin (also known as nacht domain-, leucine-rich repeat- and pyrin domain-containing protein 3 [NALP3] or pyrin domain-containing apoptotic protease activating factor 1-like protein [PYPAF1] involved in the pathogenesis of this disorder. | *NLRP3 [[gene]] encoding a protein called cryopyrin (also known as nacht domain-, leucine-rich repeat- and pyrin domain-containing protein 3 [NALP3] or pyrin domain-containing apoptotic protease activating factor 1-like protein [PYPAF1] involved in the [[pathogenesis]] of this [[disorder]]. | ||
*Cryopyrin is derived from the Greek words for icy cold and fire. The recurrent episodes of this disease are usually triggered by cold. | *Cryopyrin is derived from the Greek words for icy cold and fire. The recurrent episodes of this disease are usually triggered by cold. | ||
==Associated Conditions== | ==Associated Conditions== | ||
*Conditions associated with Familial Cold Autoinflammatory Syndrome (FCAS) include:<ref name="Almeida de JesusGoldbach-Mansky2013">{{cite journal|last1=Almeida de Jesus|first1=Adriana|last2=Goldbach-Mansky|first2=Raphaela|title=Monogenic autoinflammatory diseases: Concept and clinical manifestations|journal=Clinical Immunology|volume=147|issue=3|year=2013|pages=155–174|issn=15216616|doi=10.1016/j.clim.2013.03.016}}</ref> | *[[Conditions]] associated with Familial Cold Autoinflammatory Syndrome (FCAS) include:<ref name="Almeida de JesusGoldbach-Mansky2013">{{cite journal|last1=Almeida de Jesus|first1=Adriana|last2=Goldbach-Mansky|first2=Raphaela|title=Monogenic autoinflammatory diseases: Concept and clinical manifestations|journal=Clinical Immunology|volume=147|issue=3|year=2013|pages=155–174|issn=15216616|doi=10.1016/j.clim.2013.03.016}}</ref> | ||
**Mild hearing loss | **Mild hearing loss | ||
*Conditions associated with Muckle-Wells Syndrome include:<ref name="YuLeslie2010">{{cite journal|last1=Yu|first1=Justin R.|last2=Leslie|first2=Kieron S.|title=Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response|journal=Current Allergy and Asthma Reports|volume=11|issue=1|year=2010|pages=12–20|issn=1529-7322|doi=10.1007/s11882-010-0160-9}}</ref> | *Conditions associated with Muckle-Wells Syndrome include:<ref name="YuLeslie2010">{{cite journal|last1=Yu|first1=Justin R.|last2=Leslie|first2=Kieron S.|title=Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response|journal=Current Allergy and Asthma Reports|volume=11|issue=1|year=2010|pages=12–20|issn=1529-7322|doi=10.1007/s11882-010-0160-9}}</ref> | ||
**Hearing loss | **[[Hearing loss]] | ||
**Secondary amyloidosis | **Secondary [[amyloidosis]] | ||
*Conditions associated with Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) include:<ref name="KimMontealegre Sanchez2014">{{cite journal|last1=Kim|first1=Hanna|last2=Montealegre Sanchez|first2=Gina A.|last3=Chapelle|first3=Dawn C.|last4=Plass|first4=Nicole|last5=Dwyer|first5=Andrew|last6=Goldbach-Mansky|first6=Raphaela|last7=Hill|first7=Suvimol|title=A80: Skeletal Features of Neonatal-Onset Multisystem Inflammatory Disease (NOMID) on Anakinra Treatment: Long-Term Follow-up|journal=Arthritis & Rheumatology|volume=66|year=2014|pages=S113–S113|issn=23265191|doi=10.1002/art.38496}}</ref><ref name="Almeida de JesusGoldbach-Mansky2013">{{cite journal|last1=Almeida de Jesus|first1=Adriana|last2=Goldbach-Mansky|first2=Raphaela|title=Monogenic autoinflammatory diseases: Concept and clinical manifestations|journal=Clinical Immunology|volume=147|issue=3|year=2013|pages=155–174|issn=15216616|doi=10.1016/j.clim.2013.03.016}}</ref> | *[[Conditions]] associated with Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) include:<ref name="KimMontealegre Sanchez2014">{{cite journal|last1=Kim|first1=Hanna|last2=Montealegre Sanchez|first2=Gina A.|last3=Chapelle|first3=Dawn C.|last4=Plass|first4=Nicole|last5=Dwyer|first5=Andrew|last6=Goldbach-Mansky|first6=Raphaela|last7=Hill|first7=Suvimol|title=A80: Skeletal Features of Neonatal-Onset Multisystem Inflammatory Disease (NOMID) on Anakinra Treatment: Long-Term Follow-up|journal=Arthritis & Rheumatology|volume=66|year=2014|pages=S113–S113|issn=23265191|doi=10.1002/art.38496}}</ref><ref name="Almeida de JesusGoldbach-Mansky2013">{{cite journal|last1=Almeida de Jesus|first1=Adriana|last2=Goldbach-Mansky|first2=Raphaela|title=Monogenic autoinflammatory diseases: Concept and clinical manifestations|journal=Clinical Immunology|volume=147|issue=3|year=2013|pages=155–174|issn=15216616|doi=10.1016/j.clim.2013.03.016}}</ref> | ||
**Developmental delay | **[[Developmental delay]] | ||
**Seizure | **[[Seizure]] | ||
**Hydrocephalus | **[[Hydrocephalus]] | ||
**Chronic aseptic meningitis | **Chronic aseptic [[meningitis]] | ||
**Uveitis | **[[Uveitis]] | ||
**Pericarditis | **[[Pericarditis]] | ||
**Destructive arthropathy | **Destructive arthropathy | ||
**Secondary amyloidosis | **Secondary [[amyloidosis]] | ||
==Gross Pathology== | ==Gross Pathology== | ||
*Individual cutaneous lesion in CAPS are rose or red macule or papule or plauques.<ref name="KolivrasTheunis2011">{{cite journal|last1=Kolivras|first1=Athanassios|last2=Theunis|first2=Anne|last3=Ferster|first3=Aline|last4=Lipsker|first4=Dan|last5=Sass|first5=Ursula|last6=Dussart|first6=Anneliese|last7=André|first7=Josette|title=Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement|journal=Journal of Cutaneous Pathology|volume=38|issue=2|year=2011|pages=202–208|issn=03036987|doi=10.1111/j.1600-0560.2010.01638.x}}</ref> | *Individual cutaneous lesion in CAPS are rose or red [[macule]] or [[papule]] or [[plauques]].<ref name="KolivrasTheunis2011">{{cite journal|last1=Kolivras|first1=Athanassios|last2=Theunis|first2=Anne|last3=Ferster|first3=Aline|last4=Lipsker|first4=Dan|last5=Sass|first5=Ursula|last6=Dussart|first6=Anneliese|last7=André|first7=Josette|title=Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement|journal=Journal of Cutaneous Pathology|volume=38|issue=2|year=2011|pages=202–208|issn=03036987|doi=10.1111/j.1600-0560.2010.01638.x}}</ref> | ||
==Microscopic pathology== | ==Microscopic pathology== | ||
*Histology of urticarial lesions consists of dense neutrophilic infiltrate in perivascular area and interstitium.<ref name="KolivrasTheunis2011">{{cite journal|last1=Kolivras|first1=Athanassios|last2=Theunis|first2=Anne|last3=Ferster|first3=Aline|last4=Lipsker|first4=Dan|last5=Sass|first5=Ursula|last6=Dussart|first6=Anneliese|last7=André|first7=Josette|title=Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement|journal=Journal of Cutaneous Pathology|volume=38|issue=2|year=2011|pages=202–208|issn=03036987|doi=10.1111/j.1600-0560.2010.01638.x}}</ref> | *[[Histology]] of urticarial [[lesions]] consists of dense [[neutrophilic]] [[infiltrate]] in perivascular area and [[interstitium]].<ref name="KolivrasTheunis2011">{{cite journal|last1=Kolivras|first1=Athanassios|last2=Theunis|first2=Anne|last3=Ferster|first3=Aline|last4=Lipsker|first4=Dan|last5=Sass|first5=Ursula|last6=Dussart|first6=Anneliese|last7=André|first7=Josette|title=Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement|journal=Journal of Cutaneous Pathology|volume=38|issue=2|year=2011|pages=202–208|issn=03036987|doi=10.1111/j.1600-0560.2010.01638.x}}</ref> | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 18:36, 15 July 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
The exact pathogenesis of cryopyrin-associated periodic syndrome is not fully understood. However, it occurs due to the dysregulation of innate immune system. NLRP3 gene encoding a protein called cryopyrin involved in the pathogenesis of this disorder.
Pathophysiology
Physiology
- Inflammation is the complex immunological response of vascular tissues to harmful stimuli. Normally, it protects the organism from the injurious stimuli as well as initiates the healing process for the tissue.
Pathogenesis
- The exact pathogenesis of the cryopyrin-associated periodic syndrome is not completely understood. However, it occurs due to the dysregulation of innate immune system.[1]
- Mutations in the NLRP3 gene cause abnormal activation of the inflammasome, the molecular platform that plays a pivotal role in inflammation.
- This leads to the overexpression of the key proinflammatory cytokine, interleukin (IL)-1β.
- Excessive amounts of IL-1β triggers the uncontrolled release of inflammatory cytokines, which act synergistically with IL-1β inducing the inflammatory process. This process is mainly mediated via the recruitment and activation of neutrophils.
Genetics
- Cryopyrin-associated periodic syndrome is transmitted in the autosomal dominant pattern.[2][3]
- NLRP3 gene encoding a protein called cryopyrin (also known as nacht domain-, leucine-rich repeat- and pyrin domain-containing protein 3 [NALP3] or pyrin domain-containing apoptotic protease activating factor 1-like protein [PYPAF1] involved in the pathogenesis of this disorder.
- Cryopyrin is derived from the Greek words for icy cold and fire. The recurrent episodes of this disease are usually triggered by cold.
Associated Conditions
- Conditions associated with Familial Cold Autoinflammatory Syndrome (FCAS) include:[4]
- Mild hearing loss
- Conditions associated with Muckle-Wells Syndrome include:[5]
- Hearing loss
- Secondary amyloidosis
- Conditions associated with Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) include:[6][4]
- Developmental delay
- Seizure
- Hydrocephalus
- Chronic aseptic meningitis
- Uveitis
- Pericarditis
- Destructive arthropathy
- Secondary amyloidosis
Gross Pathology
Microscopic pathology
- Histology of urticarial lesions consists of dense neutrophilic infiltrate in perivascular area and interstitium.[7]
References
- ↑ Hoffman, Hal M.; Simon, Anna (2009). "Recurrent febrile syndromes—what a rheumatologist needs to know". Nature Reviews Rheumatology. 5 (5): 249–256. doi:10.1038/nrrheum.2009.40. ISSN 1759-4790.
- ↑ Hoffman, Hal M.; Mueller, James L.; Broide, David H.; Wanderer, Alan A.; Kolodner, Richard D. (2001). "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome". Nature Genetics. 29 (3): 301–305. doi:10.1038/ng756. ISSN 1061-4036.
- ↑ Manthiram, Kalpana; Zhou, Qing; Aksentijevich, Ivona; Kastner, Daniel L (2017). "The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation". Nature Immunology. 18 (8): 832–842. doi:10.1038/ni.3777. ISSN 1529-2908.
- ↑ 4.0 4.1 Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela (2013). "Monogenic autoinflammatory diseases: Concept and clinical manifestations". Clinical Immunology. 147 (3): 155–174. doi:10.1016/j.clim.2013.03.016. ISSN 1521-6616.
- ↑ Yu, Justin R.; Leslie, Kieron S. (2010). "Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response". Current Allergy and Asthma Reports. 11 (1): 12–20. doi:10.1007/s11882-010-0160-9. ISSN 1529-7322.
- ↑ 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.
- ↑ 7.0 7.1 Kolivras, Athanassios; Theunis, Anne; Ferster, Aline; Lipsker, Dan; Sass, Ursula; Dussart, Anneliese; André, Josette (2011). "Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement". Journal of Cutaneous Pathology. 38 (2): 202–208. doi:10.1111/j.1600-0560.2010.01638.x. ISSN 0303-6987.