Question of the Week # 193

193)  A 22 year old woman is evaluated in the office for recurrent attacks of colicky abdominal pain that resolve spontaneously. During the episodes, the pain lasts about 8 to 10 hours and resolves spontaneously. Several clinical examinations, laboratory investigations and imaging studies in the past have failed to reveal any clear etiology. She also reports recurrent swelling of her hands and feet, the last episode being 2 weeks ago. Physical examination is benign. A complete blood count and comprehensive metabolic panel are with in normal limits. Which of the following is most helpful in confirming the suspected diagnosis?

a)      Urinary Porphobilinogen

b)      Radio Allergosorbent Test ( RAST)

c)       Anti-nuclear antibodies

d)      C1-Inhibitor

e)      24 hour delta-aminolevulinic acid

5 Responses

  1. d) C1-Inhibitor

  2. d) C1-inhibitor
    Hereditary Angioedema
    Usually present with edema in 3 prominent sites:
    1) subcutaneous tissues (face, hands, arms, legs, genitals, and buttocks);

    2) abdominal organs (stomach, intestines, bladder, and kidneys), which may manifest as vomiting, diarrhea, or paroxysmal colicky pain and mimic a surgical emergency; and

    3) the upper airway (larynx) and tongue, which may result in laryngeal edema and upper airway obstruction.

    Attacks usually occur at a single site, but simultaneous involvement of subcutaneous tissue, viscera, and the larynx is not uncommon.

  3. although wouldn’t you test for c2 and c4

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