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A 22 year old man with acute genital oedema and a swollen ankle

BMJ 2011; 343 doi: http://dx.doi.org/10.1136/bmj.d3132 (Published 06 July 2011) Cite this as: BMJ 2011;343:d3132
  1. Danielle J C Komen, resident, dermatology1,
  2. Martijn B A Van Doorn, dermatologist, clinical pharmacologist2,
  3. Jim E Zeegelaar, dermatologist3
  1. 1Department of Dermatology, Academic Medical Centre, 1105 AZ Amsterdam, Netherlands
  2. 2Department of Dermatology, VU University Medical Centre, Amsterdam
  3. 3Department of Dermatology, Flevo Hospital, Almere, Netherlands
  1. Correspondence: D J C Komen d.j.komen{at}amc.uva.nl

A 22 year old man was referred to our outpatient department with a painless non-pruritic swelling of the genitals that had spontaneously developed in the course of a few hours. He had taken no medication in the past few months and denied having allergies. His medical history included intermittent “joint swellings,” which started at the age of 12. These swellings were sometimes preceded by a tingling sensation and usually resolved spontaneously within two days. Furthermore, at the age of 22 he was admitted to hospital with an episode of acute and severe abdominal pain for which no apparent cause was found.

Physical examination showed scrotal and penile oedema (fig 1), with no mucosal defects or skin abnormalities. He also had subtle swelling around the right ankle (fig 2). His vital signs were within the normal range and his temperature was 36.8°C. Ultrasonography of the scrotum and penis showed extensive subcutaneous oedema but no other abnormalities. Screening laboratory analyses (blood and urine) were unremarkable.

Questions

  • 1 What are the likely diagnosis and the differential diagnoses?

  • 2 What laboratory tests would you perform to confirm the diagnosis?

  • 3 What treatment would you suggest?

Answers

1 What are the likely diagnosis and the differential diagnoses?

Short answer

The signs and symptoms and his medical history suggest a diagnosis of hereditary angio-oedema. The main differential diagnosis is Quincke’s oedema. Other differential diagnoses are idiopathic scrotal oedema, allergic reactions, drug reactions, and penile friction oedema.

Long answer

The main diagnosis to consider in this case is hereditary angio-oedema. This is a rare autosomal dominant disease caused by mutations in the gene encoding the broad spectrum protease inhibitor C1 esterase inhibitor (C1INH), which leads to reduced plasma concentrations of functional C1INH.1 This enzyme is the primary inhibitor of the complement proteases C1r and C1s as well as the contact system proteases, activated Hageman factor (coagulation factors XIIa and XIIf), …

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