Cryopyrin-associated periodic syndrome physical examination
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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 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.