Loeys-Dietz Syndrome Defined

Loeys-Dietz syndrome is a genetic disorder of the body’s connective tissue. It has some features in common with Marfan syndrome, but it also has some important differences.

People with Loeys-Dietz syndrome features need to see a doctor who knows about the condition to decide if they have the disorder; often this will be a medical geneticist.

It is very important that people with Loeys-Dietz syndrome get an early and correct diagnosis so they can get the right treatment.

What causes Loeys-Dietz syndrome?

Loeys-Dietz syndrome is caused by a genetic mutation of either one of the two genes that tell the body how to make proteins, including the proteins in connective tissue.

These genes are called transforming growth factor beta-receptor 1 (TGFβR1) and transforming growth factor beta-receptor 2 (TGFβR2).

When either of these genes has a mutation, growth and development of the body’s connective tissue and other body systems is disrupted, leading to the signs and symptoms of Loeys-Dietz syndrome.

What are the key features of Loeys-Dietz syndrome?

Because connective tissue is found throughout the body, Loeys-Dietz syndrome features can occur throughout the body, too, including the heart, blood vessels, bones, joints, skin, and internal organs such as the intestines, spleen, and uterus.

One of the key features of Loeys-Dietz syndrome is an enlargement of the aorta, the large blood vessel that carries blood from the heart to the rest of the body.

The aorta can weaken and stretch, causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection).

This is a life-threatening complication that can occur without warning. In Loeys-Dietz syndrome, aneurysms and dissections also can occur in arteries other than the aorta.

Symptoms, Characteristics of Loeys-dietz Syndrome

Those affected of LDS are expected to suffer from the development of aortic aneurysms.

The common features of the syndrome would involve the cardiovascular system, integumentary system, skeletal system and part of the digestive system. The following are the enumerated manifestations of the condition:

  • Aortic aneurysm is the most prominent presentation of LDS.
  • There is a possibility that the aortic aneurysm shall develop to dissection, meaning there shall be tearing of the aortic wall. This entails emergency medical help.
  • Scoliosis is identified from patients.
  • Joints are observed to be flexible.
  • Arterial tortuosity is identified. This is characterized by the elongation and easy twisting of the arteries.
  • Wide-spaced eyes are observed on patients. This is medically known as hypertelorism.
  • Additional heart conditions are noted. Heart murmurs are likely to be observed in a physical examination.
  • Integumentary system: there is easy bruising and the skin texture is known to be soft and may be translucent.
  • Stomach difficulties are experienced by the affected. There shall be decrease or affectation of the digestion process. Diarrhea episodes are noted, too. In severe cases, gastrointestinal bleeding is also a manifestation.
  • Osteoporosis.
  • Cleft palate is also noted.

Other features of Loeys-Dietz syndrome include:


  • Arteries that twist and wind (arterial tortuosity)
  • Heart defects at birth (atrial septal defect, patent ductus arteriosis, bicuspid aortic valve)

Eyes, Head and Neck

  • Widely-spaced eyes (hypertelorism)
  • White of the eye looks blue or gray
  • Wide or split uvula (the tissue that hangs down in the back of the throat)
  • Cleft palate
  • Instability or malformation of the spine in the neck


  • Easy bruising, wide scars, soft skin texture, and translucent skin (when it looks almost see-through)


  • Club foot (when the foot is turned inward and upward at birth)
  • Poor mineralization of the bones (osteoporosis) that can make the bones more likely to break)


  • Allergies to food and elements in the environment
  • Stomach and intestine problems, such as difficulty absorbing food and chronic (comes and goes but never really goes away) diarrhea, abdominal pain, and/or gastrointestinal bleeding and inflammation
  • Rupture of the spleen or bowel
  • Rupture of the uterus during pregnancy

When a person has these particular features, it is important to be evaluated for Loeys-Dietz syndrome.

Diagnosis of Loeys-dietz Syndrome

Diagnosis of the condition shall include the identification of an aortic aneurysm. This can be made possible through an X-ray, CT scan or an MRI test.

Scanning of the blood vessels and the aortic area should be prioritized. In order to identify for underlying heart conditions, an echocardiogram shall be performed.

There is a definitive test for this condition and it is known as a genetic testing for Loeys-Dietz syndrome. In addition, one can identify possible genetic connection of the disease with the help of collecting the patient’s family history.

Treatment of Loeys-dietz Syndrome

Treatment for Loeys-Dietz syndrome has been quite a priority but there has been no definitive treatment for such since identification.

The disease is only treated in a palliative way, where the client is to be promoted with increased care to prolong life. Proper follow-up can also add in prolonging the life of the patient.

As aortic aneurysm is a hallmark of the disease condition, the patient is set for a surgical intervention regarding the out-pouching of the aorta.

Aortic aneurysm is bound for an emergent care as there is great possibility for a rupture, which can end up to death. It has been discussed that there is also a great possibility that the prognosis of a client shall be decreased once the aorta is surgically repaired.

Medications for aortic aneurysms are much more recommended according to latest treatment issues of the syndrome.

Prognosis of Loeys-dietz Syndrome

Prognosis of the condition can be dependent on the severity of the patient’s state. The condition is said to have a poor prognosis once aortic aneurysms are noted along with other arterial aneurysms.

As a person is diagnosed, management for the client’s comfort should be given.

Checking for development of aneurysms is essential as this can influence in the determination of the prognosis.

As a person is diagnosed of LDS, they are expected to have a shorter life. It has been noted that those who suffer from Loeys-Dietz syndrome shall only reach the age of around 20s.

The aim of treating this condition is said to prolong life, as this provides a poor prognosis.

Complications of Loeys-dietz Syndrome

The possible complications for this condition are said to be the following:
Possible rupture of the aneurysm can cause for internal hemorrhage, which basically causes death when uncontrolled.

Gastrointestinal problems which can cause excessive loss of weight. This can also lead to dehydration.



Prevention of the said disease can be hard to attain as the condition is genetic. The only prevention measure that one can perform is to avoid rupture of the aortic aneurysm.

This can be attained with proper care and careful following of the medical prescription of the doctor.

Keeping the affected healthy by eating healthy foods can assist in the process of managing the condition. Providing emotional support to the child is also a good way in preventing the child from stress that can result to possible complications.

Source & More Info: syndromespedia.comloeysdietz.org and marfan.org



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