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Published on: November 22, 2019

Ehlers-Danlos syndrome type IV in a young man

Ronald A Asherson1, Chris Bosman, Mohammed Tikly

  • 1Division of Immunology, School of Pathology, University of the Witwatersrand, Johannesburg, South Africa. ashron@icon.co.za

The Journal of Rheumatology
|October 3, 2006
PubMed

Insights

This case study highlights a rare vascular Ehlers-Danlos syndrome (vEDS) diagnosis in a young male with a complex medical history. The study details the diagnostic challenges posed by overlapping symptoms with Marfan syndrome and transient antiphospholipid antibodies.

Area of Science:

  • Genetics and rare diseases
  • Vascular pathology
  • Connective tissue disorders

Background:

  • Ehlers-Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders.
  • Vascular EDS (vEDS), specifically type IV, is characterized by arterial and organ rupture.
  • Differential diagnosis often involves conditions with overlapping phenotypes like Marfan syndrome.

Observation:

  • A 19-year-old male presented with a history of easy bruising, skin lesions, and spontaneous colonic perforation.
  • He later developed bilateral renal infarctions and hypertension due to renal artery dissection.
  • Transient antiphospholipid antibodies (aPL) and elastosis perforans serpiginosa were noted on investigations.

Findings:

  • The patient's clinical presentation, family history, and diagnostic findings supported a diagnosis of vascular Ehlers-Danlos syndrome, type IV.
  • The physical characteristics were similar to Marfan syndrome, complicating the diagnosis.
  • Transient aPL elevations presented a diagnostic and management challenge.

Implications:

  • This case underscores the importance of recognizing the diverse and overlapping clinical manifestations of connective tissue disorders.
  • Accurate diagnosis of vEDS is critical for appropriate management and genetic counseling.
  • The presence of transient aPL requires careful consideration in the diagnostic workup of vascular events.

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