Cryopyrin-associated periodic syndrome physical examination: Difference between revisions

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==Overview==
==Overview==
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
[[Physical examination]] of patients with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced [[fever]], [[Urticaria|urticaria-like]] [[painful]] [[rash]], and [[arthritis]]. [[Hearing loss]], [[ophthalmologic]] involvement, and focal [[neurologic]] [[signs]] are more suggestive of NOMID.  
 
OR
 
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


==Physical Examination==
==Physical Examination==
Physical examination of patients with [disease name] is usually normal.
*[[Physical examination]] of [[patients]] with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced [[fever]], [[Urticaria|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).
OR
*The presence of a cold-induced urticarial [[rash]] on [[physical examination]] is more [[diagnostic]] of FCAS.
 
Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


===Appearance of the Patient===
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].  
*[[Patients]] with the cryopyrin-associated periodic syndrome (CAPS) usually appear normal.  


===Vital Signs===
===Vital Signs===
 
*High-grade [[fever]]
*High-grade / low-grade fever
*[[Tachycardia]] with regular pulse due to the presence of [[fever]]
*[[Hypothermia]] / hyperthermia may be present
*[[Tachypnea]]
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*Tachypnea / bradypnea
*Kussmal respirations may be present in _____ (advanced disease state)
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]


===Skin===
===Skin===
* Skin examination of patients with [disease name] is usually normal.
*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>
OR
*The rash is non-pruritic and usually cold-induced.
*[[Cyanosis]]  
*Ice cube test is negative.
*[[Jaundice]]
* [[Pallor]]
* Bruises
 
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===HEENT===
===HEENT===
* HEENT examination of patients with [disease name] is usually normal.
*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>
OR
*Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) is especially accompanied by eye [[complications]] such as:
* Abnormalities of the head/hair may include ___
**[[Conjunctivitis]]
* Evidence of trauma
**[[Episcleritis]]
* Icteric sclera
**Corneal haze
* [[Nystagmus]]  
**[[Uveitis]]
* Extra-ocular movements may be abnormal
**[[Iritis]]
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
**[[Papilledema]]
*Ophthalmoscopic exam may be abnormal with findings of ___
**[[Retinal]] scarring
* Hearing acuity may be reduced
*High arched [[palate]] and [[middle ear]] effusion have also been reported.
*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
*Hearing acuity may be reduced especially in NOMID.
*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
*[[Frontal]] bossing of the [[forehead]], [[saddleback]] nose are other possible findings in NOMID.
* [[Exudate]] from the ear canal
* Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
*Inflamed nares / congested nares
* [[Purulent]] exudate from the nares
* Facial tenderness
* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae


===Neck===
===Neck===
* Neck examination of patients with [disease name] is usually normal.
* 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>
OR
**[[Lymphadenopathy]]
*[[Jugular venous distension]]
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]]


===Lungs===
===Lungs===
* Pulmonary examination of patients with [disease name] is usually normal.
*[[Pulmonary]] examination of [[patients]] with cryopyrin-associated periodic syndrome is usually normal.
OR
* Asymmetric chest expansion OR decreased chest expansion
*Lungs are hyporesonant OR hyperresonant
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
*Rhonchi
*Vesicular breath sounds OR distant breath sounds
*Expiratory wheezing OR inspiratory wheezing with normal OR delayed expiratory phase
*[[Wheezing]] may be present
*[[Egophony]] present/absent
*[[Bronchophony]] present/absent
*Normal/reduced [[tactile fremitus]]


===Heart===
===Heart===
* Cardiovascular examination of patients with [disease name] is usually normal.
*Cardiovascular examination of [[patients]] with the cryopyrin-associated periodic syndrome is usually normal.
OR
*Chest tenderness upon palpation
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heave]] / [[thrill]]
*[[Friction rub]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|Gallops]]
*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the stethoscope


===Abdomen===
===Abdomen===
* Abdominal examination of patients with [disease name] is usually normal.
*[[Abdominal]] examination of [[patients]] with the cryopyrin-associated periodic syndrome is usually normal. However, it may be positive for [[splenomegaly]] and/or [[hepatomegaly]].
OR
*[[Abdominal distension]]  
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
*[[Rebound tenderness]] (positive Blumberg sign)
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*Guarding may be present
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test


===Back===
===Back===
* Back examination of patients with [disease name] is usually normal.
*Back examination of [[patients]] with the cryopyrin-associated periodic syndrome is usually normal.
OR
*Point tenderness over __ vertebrae (e.g. L3-L4)
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump


===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
*Genitourinary examination of [[patients]] with the cryopyrin-associated periodic syndrome is usually normal.
OR
*A pelvic/adnexal mass may be palpated
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge


===Neuromuscular===
===Neuromuscular===
* Neuromuscular examination of patients with [disease name] is usually normal.
*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>
OR
**[[Signs]] of elevated [[intracranial pressure]]
*Patient is usually oriented to persons, place, and time
**[[Papilledema]]
* Altered mental status
*[[Developmental delay]] is especially [[diagnostic]] for NOMID.  
* Glasgow coma scale is ___ / 15
*[[Neurologic examination]] of [[patients]] with NOMID may include focal [[neurologic]] [[signs]] due to [[CNS]] involvement.
* Clonus may be present
* Hyperreflexia / hyporeflexia / areflexia
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Muscle rigidity
* Proximal/distal muscle weakness unilaterally/bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*Unilateral/bilateral upper/lower extremity weakness
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Positive straight leg raise test
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
*Positive/negative Trendelenburg sign
*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)


===Extremities===
===Extremities===
* Extremities examination of patients with [disease name] is usually normal.
*Extremities examination of patients with the cryopyrin-associated periodic syndrome is usually normal.
OR
*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>
*[[Clubbing]]  
*Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) may be [[Association (statistics)|associated]] with:
*[[Cyanosis]]  
**[[Deformity|Deforming]] [[arthropathy]] affecting especially distal of [[femur]] and [[patella]]
*Pitting/non-pitting [[edema]] of the upper/lower extremities
**Abnormal bony overgrowth of the [[knees]]
*Muscle atrophy
**[[Contractures]]
*Fasciculations in the upper/lower extremity
**[[Clubbing]]


==References==
==References==

Latest revision as of 20:55, 16 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

Appearance of the Patient

  • Patients with the cryopyrin-associated periodic syndrome (CAPS) usually appear normal.

Vital Signs

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

Neck

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

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

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:

References

  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.
  2. ↑ 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.
  3. ↑ 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. ↑ 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.
  5. ↑ 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.

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