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Marfan syndrome & connective tissue disorders

Syndroma Marfan · Marfanův syndrom a poruchy pojivové tkáně

What it is

Faulty fibrillin or collagen: tall thin build, loose joints, and a fragile aorta.

Symptoms & signs

  • Tall with long limbs and fingers
  • joint hypermobility
  • lens dislocation
  • chest deformity
  • aortic dilation
  • skin stretchiness in Ehlers-Danlos

🚩 Get help if…

  • call 112 / 911 now Sudden tearing chest or back pain
  • call 112 / 911 now Sudden breathlessness with one-sided chest pain
  • call 112 / 911 now Sudden flashes, floaters or a curtain over vision
  • see a doctor soon Racing or skipping heart or fainting

Where it strikes

Medical treatment

  • Beta blockers or losartan to slow aortic growth
  • annual echocardiography
  • prophylactic aortic surgery
  • avoid contact and isometric sport

Natural & lifestyle

  • Moderate aerobic exercise only
  • avoid heavy lifting
  • joint protection and physiotherapy
  • eye checks
  • genetic counselling

Emerging & experimental

  • Losartan and beta-blocker combination trials
  • personalised aortic risk modelling
  • gene-based therapies

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Doxycycline — slowed aortic growth in mice; untested in people early / small studies
  • Collagen supplements (vitamin C, copper) — plausible; untested anecdotal / traditional

ICD codes