Cryopyrin-associated periodic syndrome physical examination: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 5: | Line 5: | ||
==Overview== | ==Overview== | ||
Physical examination of patients with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced fever, urticaria-like painful rash, and arthritis. Hearing loss, ophthalmologic involvement, and focal neurologic signs are more suggestive of NOMID. | Physical examination of patients with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced [[fever]], urticaria-like [[painful]] [[rash]], and [[arthritis]]. [[Hearing loss]], ophthalmologic involvement, and focal [[neurologic]] [[signs]] are more suggestive of NOMID. | ||
==Physical Examination== | ==Physical Examination== | ||
*Physical examination of patients with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced fever, urticaria-like painful rash, and arthritis.<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> | *[[Physical examination]] of [[patients]] with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced fever, urticaria-like [[painful]] [[rash]], and [[arthritis]].<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> | ||
*The presence of Cold-induced urticarial rash on physical examination is highly suggestive of the cryopyrin-associated periodic syndrome (CAPS). | *The presence of Cold-induced urticarial [[rash]] on [[physical examination]] is highly suggestive of the cryopyrin-associated periodic syndrome (CAPS). | ||
*The presence of a cold-induced urticarial rash on physical examination is more diagnostic of FCAS. | *The presence of a cold-induced urticarial [[rash]] on [[physical examination]] is more [[diagnostic]] of FCAS. | ||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
*Patients with the cryopyrin-associated periodic syndrome (CAPS) usually appear normal. | *[[Patients]] with the cryopyrin-associated periodic syndrome (CAPS) usually appear normal. | ||
===Vital Signs=== | ===Vital Signs=== | ||
*High-grade fever | *High-grade [[fever]] | ||
*[[Tachycardia]] with regular pulse due to the presence of fever | *[[Tachycardia]] with regular pulse due to the presence of [[fever]] | ||
*Tachypnea | *[[Tachypnea]] | ||
===Skin=== | ===Skin=== | ||
*Skin examination of patients with | *Skin examination of patients with CAPS indicates the presence of a migratory [[maculopapular]] skin [[rash]] resembling [[urticaria]].<ref name="AhmadiBrewer2011">{{cite journal|last1=Ahmadi|first1=Neda|last2=Brewer|first2=Carmen C.|last3=Zalewski|first3=Christopher|last4=King|first4=Kelly A.|last5=Butman|first5=John A.|last6=Plass|first6=Nicole|last7=Henderson|first7=Cailin|last8=Goldbach-Mansky|first8=Raphaela|last9=Kim|first9=H. Jeffrey|title=Cryopyrin-Associated Periodic Syndromes|journal=Otolaryngology–Head and Neck Surgery|volume=145|issue=2|year=2011|pages=295–302|issn=0194-5998|doi=10.1177/0194599811402296}}</ref> | ||
*The rash is non-pruritic and usually cold-induced. | *The rash is non-pruritic and usually cold-induced. | ||
*Ice cube test is negative. | *Ice cube test is negative. | ||
===HEENT=== | ===HEENT=== | ||
*Ophthalmoscopic exam may be abnormal with findings of conjunctivitis.<ref name="AhmadiBrewer2011">{{cite journal|last1=Ahmadi|first1=Neda|last2=Brewer|first2=Carmen C.|last3=Zalewski|first3=Christopher|last4=King|first4=Kelly A.|last5=Butman|first5=John A.|last6=Plass|first6=Nicole|last7=Henderson|first7=Cailin|last8=Goldbach-Mansky|first8=Raphaela|last9=Kim|first9=H. Jeffrey|title=Cryopyrin-Associated Periodic Syndromes|journal=Otolaryngology–Head and Neck Surgery|volume=145|issue=2|year=2011|pages=295–302|issn=0194-5998|doi=10.1177/0194599811402296}}</ref> | *Ophthalmoscopic exam may be abnormal with findings of [[conjunctivitis]].<ref name="AhmadiBrewer2011">{{cite journal|last1=Ahmadi|first1=Neda|last2=Brewer|first2=Carmen C.|last3=Zalewski|first3=Christopher|last4=King|first4=Kelly A.|last5=Butman|first5=John A.|last6=Plass|first6=Nicole|last7=Henderson|first7=Cailin|last8=Goldbach-Mansky|first8=Raphaela|last9=Kim|first9=H. Jeffrey|title=Cryopyrin-Associated Periodic Syndromes|journal=Otolaryngology–Head and Neck Surgery|volume=145|issue=2|year=2011|pages=295–302|issn=0194-5998|doi=10.1177/0194599811402296}}</ref> | ||
*Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) is especially accompanied by eye complications such as: | *Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) is especially accompanied by eye complications such as: | ||
**Conjunctivitis | **[[Conjunctivitis]] | ||
**Episcleritis | **[[Episcleritis]] | ||
**Corneal haze | **Corneal haze | ||
**Uveitis | **[[Uveitis]] | ||
**Iritis | **[[Iritis]] | ||
**Papilledema | **[[Papilledema]] | ||
**Retinal scarring | **[[Retinal]] scarring | ||
*High arched palate and middle ear effusion have also been reported. | *High arched palate and middle ear effusion have also been reported. | ||
*Hearing acuity may be reduced especially in NOMID. | *Hearing acuity may be reduced especially in NOMID. | ||
*Frontal bossing of the forehead, saddleback nose are other possible findings in NOMID. | *[[Frontal]] bossing of the forehead, [[saddleback]] nose are other possible findings in NOMID. | ||
===Neck=== | ===Neck=== | ||
* Neck examination of patients with | * Neck examination of patients with CAPS is suggestive of:<ref name="LevyGérard2015">{{cite journal|last1=Levy|first1=R|last2=Gérard|first2=L|last3=Kuemmerle-Deschner|first3=J|last4=Lachmann|first4=H J|last5=Koné-Paut|first5=I|last6=Cantarini|first6=L|last7=Woo|first7=P|last8=Naselli|first8=A|last9=Bader-Meunier|first9=B|last10=Insalaco|first10=A|last11=Al-Mayouf|first11=S M|last12=Ozen|first12=S|last13=Hofer|first13=M|last14=Frenkel|first14=J|last15=Modesto|first15=C|last16=Nikishina|first16=I|last17=Schwarz|first17=T|last18=Martino|first18=S|last19=Meini|first19=A|last20=Quartier|first20=P|last21=Martini|first21=A|last22=Ruperto|first22=N|last23=Neven|first23=B|last24=Gattorno|first24=M|title=Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry|journal=Annals of the Rheumatic Diseases|volume=74|issue=11|year=2015|pages=2043–2049|issn=0003-4967|doi=10.1136/annrheumdis-2013-204991}}</ref> | ||
**[[Lymphadenopathy]] | **[[Lymphadenopathy]] | ||
===Lungs=== | ===Lungs=== | ||
*Pulmonary examination of patients with cryopyrin-associated periodic syndrome is usually normal. | *[[Pulmonary]] examination of [[patients]] with cryopyrin-associated periodic syndrome is usually normal. | ||
===Heart=== | ===Heart=== | ||
*Cardiovascular examination of patients with the cryopyrin-associated periodic syndrome is usually normal. | *Cardiovascular examination of [[patients]] with the cryopyrin-associated periodic syndrome is usually normal. | ||
===Abdomen=== | ===Abdomen=== | ||
*Abdominal examination of patients with the cryopyrin-associated periodic syndrome is usually normal. However, it may be positive for splenomegaly and/or hepatomegaly. | *[[Abdominal]] examination of [[patients]] with the cryopyrin-associated periodic syndrome is usually normal. However, it may be positive for [[splenomegaly]] and/or [[hepatomegaly]]. | ||
===Back=== | ===Back=== | ||
*Back examination of patients with the cryopyrin-associated periodic syndrome is usually normal. | *Back examination of [[patients]] with the cryopyrin-associated periodic syndrome is usually normal. | ||
===Genitourinary=== | ===Genitourinary=== | ||
*Genitourinary examination of patients with the cryopyrin-associated periodic syndrome is usually normal. | *Genitourinary examination of [[patients]] with the cryopyrin-associated periodic syndrome is usually normal. | ||
===Neuromuscular=== | ===Neuromuscular=== | ||
*Neuromuscular examination of patients with the cryopyrin-associated periodic syndrome is suggestive of:<ref name="Kastner2005">{{cite journal|last1=Kastner|first1=D. L.|title=Hereditary Periodic Fever Syndromes|journal=Hematology|volume=2005|issue=1|year=2005|pages=74–81|issn=1520-4391|doi=10.1182/asheducation-2005.1.74}}</ref> | *Neuromuscular examination of patients with the cryopyrin-associated periodic syndrome is suggestive of:<ref name="Kastner2005">{{cite journal|last1=Kastner|first1=D. L.|title=Hereditary Periodic Fever Syndromes|journal=Hematology|volume=2005|issue=1|year=2005|pages=74–81|issn=1520-4391|doi=10.1182/asheducation-2005.1.74}}</ref> | ||
**Signs of elevated intracranial pressure | **[[Signs]] of elevated [[intracranial pressure]] | ||
**Papilledema | **[[Papilledema]] | ||
*Developmental delay is especially diagnostic for NOMID. | *[[Developmental delay]] is especially [[diagnostic]] for NOMID. | ||
*Neurologic examination of patients with NOMID may include focal neurologic signs due to CNS involvement. | *[[Neurologic examination]] of [[patients]] with NOMID may include focal [[neurologic]] [[signs]] due to [[CNS]] involvement. | ||
===Extremities=== | ===Extremities=== | ||
| Line 69: | Line 69: | ||
*However, stiffness and swelling may be observed in the affected joints.<ref name="Kastner2005">{{cite journal|last1=Kastner|first1=D. L.|title=Hereditary Periodic Fever Syndromes|journal=Hematology|volume=2005|issue=1|year=2005|pages=74–81|issn=1520-4391|doi=10.1182/asheducation-2005.1.74}}</ref><ref name="SridharanMohd Zaki2012">{{cite journal|last1=Sridharan|first1=Radhika|last2=Mohd Zaki|first2=Faizah|last3=Sook Pei|first3=Tan|last4=Swee Ping|first4=Tang|last5=Ibrahim|first5=Sharaf|title=NOMID: The radiographic and MRI features and review of literature|journal=Journal of Radiology Case Reports|volume=6|issue=3|year=2012|issn=1943-0922|doi=10.3941/jrcr.v6i3.745}}</ref> | *However, stiffness and swelling may be observed in the affected joints.<ref name="Kastner2005">{{cite journal|last1=Kastner|first1=D. L.|title=Hereditary Periodic Fever Syndromes|journal=Hematology|volume=2005|issue=1|year=2005|pages=74–81|issn=1520-4391|doi=10.1182/asheducation-2005.1.74}}</ref><ref name="SridharanMohd Zaki2012">{{cite journal|last1=Sridharan|first1=Radhika|last2=Mohd Zaki|first2=Faizah|last3=Sook Pei|first3=Tan|last4=Swee Ping|first4=Tang|last5=Ibrahim|first5=Sharaf|title=NOMID: The radiographic and MRI features and review of literature|journal=Journal of Radiology Case Reports|volume=6|issue=3|year=2012|issn=1943-0922|doi=10.3941/jrcr.v6i3.745}}</ref> | ||
*Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) may be associated with: | *Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) may be associated with: | ||
**Deforming arthropathy affecting especially distal of femur and patella | **Deforming arthropathy affecting especially distal of [[femur]] and [[patella]] | ||
**Abnormal bony overgrowth of the knees | **Abnormal bony overgrowth of the knees | ||
**Contractures | **[[Contractures]] | ||
**Clubbing | **[[Clubbing]] | ||
==References== | ==References== | ||
Revision as of 18:44, 15 July 2019
|
Cryopyrin-associated periodic syndrome Microchapters |
|
Differentiating Cryopyrin-associated periodic syndrome from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Cryopyrin-associated periodic syndrome physical examination On the Web |
|
American Roentgen Ray Society Images of Cryopyrin-associated periodic syndrome physical examination |
|
FDA on Cryopyrin-associated periodic syndrome physical examination |
|
CDC on Cryopyrin-associated periodic syndrome physical examination |
|
Cryopyrin-associated periodic syndrome physical examination in the news |
|
Blogs on Cryopyrin-associated periodic syndrome physical examination |
|
Risk calculators and risk factors for Cryopyrin-associated periodic syndrome physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
Physical examination of patients with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced fever, urticaria-like painful rash, and arthritis. Hearing loss, ophthalmologic involvement, and focal neurologic signs are more suggestive of NOMID.
Physical Examination
- Physical examination of patients with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced fever, urticaria-like painful rash, and arthritis.[1]
- The presence of Cold-induced urticarial rash on physical examination is highly suggestive of the cryopyrin-associated periodic syndrome (CAPS).
- The presence of a cold-induced urticarial rash on physical examination is more diagnostic of FCAS.
Appearance of the Patient
- Patients with the cryopyrin-associated periodic syndrome (CAPS) usually appear normal.
Vital Signs
- High-grade fever
- Tachycardia with regular pulse due to the presence of fever
- Tachypnea
Skin
- Skin examination of patients with CAPS indicates the presence of a migratory maculopapular skin rash resembling urticaria.[2]
- The rash is non-pruritic and usually cold-induced.
- Ice cube test is negative.
HEENT
- Ophthalmoscopic exam may be abnormal with findings of conjunctivitis.[2]
- Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) is especially accompanied by eye complications such as:
- Conjunctivitis
- Episcleritis
- Corneal haze
- Uveitis
- Iritis
- Papilledema
- Retinal scarring
- High arched palate and middle ear effusion have also been reported.
- Hearing acuity may be reduced especially in NOMID.
- Frontal bossing of the forehead, saddleback nose are other possible findings in NOMID.
Neck
- Neck examination of patients with CAPS is suggestive of:[3]
Lungs
Heart
- Cardiovascular examination of patients with the cryopyrin-associated periodic syndrome is usually normal.
Abdomen
- Abdominal examination of patients with the cryopyrin-associated periodic syndrome is usually normal. However, it may be positive for splenomegaly and/or hepatomegaly.
Back
- Back examination of patients with the cryopyrin-associated periodic syndrome is usually normal.
Genitourinary
- Genitourinary examination of patients with the cryopyrin-associated periodic syndrome is usually normal.
Neuromuscular
- Neuromuscular examination of patients with the cryopyrin-associated periodic syndrome is suggestive of:[4]
- Signs of elevated intracranial pressure
- Papilledema
- Developmental delay is especially diagnostic for NOMID.
- Neurologic examination of patients with NOMID may include focal neurologic signs due to CNS involvement.
Extremities
- Extremities examination of patients with the cryopyrin-associated periodic syndrome is usually normal.
- However, stiffness and swelling may be observed in the affected joints.[4][5]
- Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) may be associated with:
- Deforming arthropathy affecting especially distal of femur and patella
- Abnormal bony overgrowth of the knees
- Contractures
- Clubbing
References
- ↑ 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.
- ↑ 2.0 2.1 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.
- ↑ Levy, R; Gérard, L; Kuemmerle-Deschner, J; Lachmann, H J; Koné-Paut, I; Cantarini, L; Woo, P; Naselli, A; Bader-Meunier, B; Insalaco, A; Al-Mayouf, S M; Ozen, S; Hofer, M; Frenkel, J; Modesto, C; Nikishina, I; Schwarz, T; Martino, S; Meini, A; Quartier, P; Martini, A; Ruperto, N; Neven, B; Gattorno, M (2015). "Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry". Annals of the Rheumatic Diseases. 74 (11): 2043–2049. doi:10.1136/annrheumdis-2013-204991. ISSN 0003-4967.
- ↑ 4.0 4.1 Kastner, D. L. (2005). "Hereditary Periodic Fever Syndromes". Hematology. 2005 (1): 74–81. doi:10.1182/asheducation-2005.1.74. ISSN 1520-4391.
- ↑ Sridharan, Radhika; Mohd Zaki, Faizah; Sook Pei, Tan; Swee Ping, Tang; Ibrahim, Sharaf (2012). "NOMID: The radiographic and MRI features and review of literature". Journal of Radiology Case Reports. 6 (3). doi:10.3941/jrcr.v6i3.745. ISSN 1943-0922.