Loeys-Dietz syndrome 3.75/5 (4)

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Loeys-Dietz syndrome is a hereditary (autosomal dominant) disease that may resemble Marfan Syndrome. Along with vascular form of Ehlers-Danlos syndrome (which attacks blood vessels) and hereditary thoracic aortic aneurysm (HTAD), the disease is included among the hereditary "Marfan-like" diseases. Loeys-Dietz syndrome is therefore not one autoimmune" connective tissue disease. Genetic testing has revealed several forms (6 different types per 2019). Many have had family members who died suddenly at a young age.


Thus, Loeys-Dietz syndrome is defined as one rare disease.

Disease Cause

TGF-beta receptor 1 or 2 mutation encoding TGFBR1 or 2.


Cardiac Disease of Loeys-Dietz Syndrome. CT and ultrasound images. Uike K, 2013. CC BY 2.0


Incorrect diagnosis (similar conditions, differential diagnoses)

Differential diagnoses of other “Marfan-like” diseases:


Increased risk of enlargement of the main artery, usually near the heart and in the aortic arch.

  • Loeys-Dietz syndrome is thus one of the causes of enlargement of the main artery (aneurysms)
  • Aortic dissection (damage to the blood vessel wall)


No curative treatment is available

  • If enlargement of the arteries (aneurysms) occur, may surgery to prevent the artery from bursting (aortaruptur) become necessary.
    • Karate surgeons / thoracic surgeons have guidelines for when operations should be performed.
    • Such interventions are carried out, among other things, at Rikshospitalet in Oslo
  • Blood pressure measurements are important to detect any high blood pressure that may increase the risk of aortic aneurysms
  • Usual physical activity is recommended. Intensive, hard physical exercise increases the pressure on the blood vessels and should be avoided
  • Cortisone and other immunosuppressive treatment have no place in the treatment of hereditary connective tissue diseases, unlike autoimmune connective tissue disease


Regular blood vessel monitoring is important

  • MRI angiography produces the major arteries from the head, neck, chest, abdomen and pelvis
  • Also with ultrasound Doppler / echocardiography the diameter of the head artery at the heart and aortic arch can be measured
  • If the artery expands, measurements are made at least every six months, otherwise annually for a longer period
  • Also during CT examination the entire main artery can be displayed. The investigation is not done too often because of X-rays


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