Cryopyrin-associated periodic syndrome physical examination

Cryopyrin-associated periodic syndrome Microchapters
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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

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].

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 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.
• 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.

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.
• The rash is non-pruritic and usually cold-induced.
• Ice cube test is negative.

HEENT

• Ophthalmoscopic exam may be abnormal with findings of conjunctivitis.
• Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) is especially accompanied by eye complications such as:
  • Conjunctivitis
  • 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.

Neck

• Neck examination of patients with [disease name] is suggestive of:
  • Lymphadenopathy ()

Lungs

• Pulmonary examination of patients with [disease name] 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

• Cardiovascular examination of patients with [disease name] 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
• S1
• S2
• S3
• S4
• 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

• Abdominal examination of patients with [disease name] is usually normal.

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 examination of patients with [disease name] is usually normal.

OR

• Point tenderness over __ vertebrae (e.g. L3-L4)
• Sacral edema
• Costovertebral angle tenderness bilaterally/unilaterally
• Buffalo hump

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:
  • Signs of elevated intracranial pressure
  • Papilledema
• Developmental delay is especially diagnostic for NOMID.

Extremities

• Extremities examination of patients with the cryopyrin-associated periodic syndrome is usually normal.
• However, deforming arthropathy may occur in NOMID affecting especially distal of femur and patella.