Cryopyrin-associated periodic syndrome physical examination: Difference between revisions
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==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== | ==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. | *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 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. | ||
| Line 48: | Line 37: | ||
*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. | |||
===Neck=== | ===Neck=== | ||
* Neck examination of patients with [disease name] is suggestive of: | * Neck examination of patients with [disease name] 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 | *Pulmonary examination of patients with cryopyrin-associated periodic syndrome is usually normal. | ||
===Heart=== | ===Heart=== | ||
* Cardiovascular examination of patients with | *Cardiovascular examination of patients with the cryopyrin-associated periodic syndrome is usually normal. | ||
===Abdomen=== | ===Abdomen=== | ||
* Abdominal examination of patients with | *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 | *Back examination of patients with the cryopyrin-associated periodic syndrome is usually normal. | ||
===Genitourinary=== | ===Genitourinary=== | ||
| Line 103: | Line 59: | ||
===Neuromuscular=== | ===Neuromuscular=== | ||
*Neuromuscular examination of patients with the cryopyrin-associated periodic syndrome is suggestive of: | *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=== | ||
*Extremities examination of patients with the cryopyrin-associated periodic syndrome is usually normal. | *Extremities examination of patients with the cryopyrin-associated periodic syndrome is usually normal. | ||
*However, | *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> | ||
*Abnormal bony overgrowth of the knees | *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== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 18:41, 10 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
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 [disease name] 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 [disease name] is suggestive of:[3]
Lungs
- Pulmonary examination of patients with cryopyrin-associated periodic syndrome is usually normal.
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]
- 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.