
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Cryopyrin-associated periodic syndrome physical examination
Introduction
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.[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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
