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Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis

Olivier M Vanakker1, Dimitri Hemelsoet, Anne De Paepe

  • 1Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.

Stroke Research and Treatment
|February 19, 2011
PubMed

Insights

Monogenic connective tissue diseases, including vascular Ehlers-Danlos syndrome and collagen disorders, can cause stroke, especially in young adults. Early diagnosis relies on recognizing key clinical features associated with these rare genetic conditions.

Area of Science:

  • Neurology
  • Genetics
  • Rheumatology

Background:

  • Stroke is often polygenetic or multifactorial.
  • Monogenic diseases can cause stroke, particularly in young adults.
  • Connective tissue diseases are an under-recognized cause of stroke.

Purpose of the Study:

  • To discuss connective tissue disorders associated with stroke.
  • To highlight clinical features for diagnosing these conditions.
  • To increase awareness of monogenic stroke causes.

Main Methods:

  • Literature review of connective tissue diseases and stroke.
  • Analysis of clinical features for diagnostic clues.
  • Synthesis of information on vascular Ehlers-Danlos syndrome and collagen disorders.

Main Results:

  • Vascular Ehlers-Danlos syndrome is a known cause of stroke.
  • Disorders related to Type IV collagen are emerging causes of stroke.
  • Other connective tissue diseases can also present with stroke.

Conclusions:

  • Connective tissue disorders are important differential diagnoses for stroke in young adults.
  • Recognizing specific clinical features aids in diagnosing these genetic conditions.
  • Further research is needed to understand the full spectrum of genetic stroke causes.

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