What is Loeys-Dietz syndrome?
The Loeys-Dietz syndrome is a newly identified condition and is basically known as an arterial or connective tissue disorder. It has been known to all as resulting to aortic aneurysm. An aortic aneurysm is known as the ballooning of our main artery. This condition is a delicate case as the young are commonly affected, and that death is quite a common result of the condition. Loeys-Dietz syndrome is identified as an autosomal dominant syndrome, which means the child has inherited the disease condition from a parent. The disease condition has been coined from two colleagues who first identified the condition, Dr. Harry Dietz and Bart Loeys.
A Child with Loeys-dietz Syndrome Characterized by Wide-Spaced Eyes
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.
- Cleft palate is also noted.
Symptoms of Loeys-dietz Syndrome showing A) Cleft Lip, Scoliosis, and joint flexibility B) Aortic Aneurysm and C) Arterial Tortuosity
Causes & Risk factors of Loeys-dietz Syndrome
As this condition has been identified recently, breakthrough for its known cause has been attained. It has been determined that TGF-beta has brought the changes that hold the cause of the development of the disease condition. This has been known as a molecule that triggers the growth of cells and also destruction of cells with alteration of a number of genes for cell make up and activity.
Those who are at risk of LDS are people who have a familial history of the disease. It has also been noted that those with an underlying connective tissue disorder are prone to developing Loeys-Dietz syndrome.
The condition is considered hereditary or a genetic component has made it possible for a person to suffer from LDS. The condition is believed to be an autosomal dominant disorder which means that a specific gene was inherited by the child from one parent. Studies have shown that about 60% of the affected has genetic traces of the disease.
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 surgicallyrepaired. 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.
Life expectancy of Loeys-dietz Syndrome
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.