Loeys-dietz Syndrome – Life Expectancy, Symptoms, Causes, Treatment
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.
- Osteoporosis.
- 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.
Genetics
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
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.
The information in this article is accurate information on connective tissue disorders. I hope this will help anybody looking for info on LDS
Some of the information is correct, but no one should put a life expectancy on such a new disorder. My father was diagnosed in 2005 but before that he had 10 surgeries all do to his LDS. He is 59 and still going. My brother and I both diagnosed and we are 38 and 40. I hope that that helps someone, never give up. Life isn’t over.
Thanks you SO MUCH.. we doelpful t nt know if our daughter has it.. but we lost our first child , and this possible new news is devastating YOUR hopefulnote is so helpful to me now.
Thanks a lot for giving us the hope.
I’m facing my second open heart surgery at 36 for an aortic arch aneurysm. Your post has helped me. I’m so scared.
Have you had pain with joints bones mucles ?
Thank you so much for posting this. I need a second open heart surgery to repair an aneurysm. I put a smile on my face but inside I’m not coping at all. This is the only thing that I have read that has given me hope for the future.
Thank you for that information my sister is now 9 and she has this condition .
I agree. I was told 30 years ago that I would die early. I am 48 now and going strong. I have four cousins, all younger than me that all had dissected Aorta’s. Only one died. The others are doing just fine. At least now they know that Losartin blocks the protein that causes the issues and can actually reduce already developed symptoms. Not a cure yet but it helps!
That is so motivation because the internet shows only such expectancys thank you so much
The outlook for individuals diagnosed with Loeys-Dietz syndrome is much more optimistic. Please visit the Loeys-Dietz Syndrome Foundation (www.loeysdietz.org) for more information.
Is sress an important factor in the aggravation and death of a patient with Loeys Dietz syndrome
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My son was diagnosed with LDS and has had 2 major surgeries. The first was 8 years ago to repair an aortic dissection and the second this year to replace the aortic root, arch, and a mechanical valve. He will be having another soon to replace the residual part of the aorta. He is 42 and had his first surgery at 34. These people need support.
Hello I recently found out my son has LDS and more than likely he will undergo surgery next year. In the meantime he complains of headaches and his legs fall asleep a lot. Do anyone know if this is related to LDS?
my child was just diagnosed as well her headaches started in 5th grade and had been non stop migraine for the last 5 years. we just started medical marijuanna and this is the first med that has helped with those headaches as well as her POTS has seemed to calm down with no episodes of the heart racing enough to almost make her faint. and for the first time in i do not know how long she is able to eat without throwing up. Still waiting for my test results but my father died in his 70’s with and unknown degenerative vascular disease (likely the LDS)
i have a sister and brother who likely have it as well (heart attacks early as well as heart valve issues she if 54 and he 49 and i am 48. i have had many strange bleeds throughout my life and my aorta is dilated as well as lung issues. my tests should be in soon and then they will check my other children but likely 2 other besides my daughter with the condition.
Loeys-Dietz affects everyone differently. My brother passed 2 years ago from iliac artery rupturing. We both have it, and our symptoms are totally different. I have degenerative disc disease in my neck from it and it causes very bad headaches. Migraine quality were it feels like I was hit in the back of the head with a bat. My brothers large intestines kept rupturing, mine are fine. I have no lining to my bladder, and his bladder was fine. I have osteoarthritis in my knee, back and hip, his joints were just fine. My father passed at 43 from aortic aneurysm, my brother at 41 from iliac aneurysm rupture and I am 40. I have 4 active aneurysms that are small and have already had my aorta replaced.
Hello, hope you don’t mind me asking but how long ago did you have your aorta replaced and where are your current aneurysms? I’m 37 and i’ve had half my aorta replaced and half with stents. No one seems to know if either part will need doing again. I had my 4 ops in 2015 but not diagnosed with LDS till 2016. Last scan wasn’t clear so to get another, feel I’m constantly waiting on bad news.
I have been positively diagnosed by genetic testing and had a mechanical valve put in over 5 years ago and I am doing fine.
Ask your doctor about LOSARTAN. It is a blood pressure medicine but has been found to block the specific protein that causes the connective tissue issues. It can stop damage from progressing and if treated with larger doses has even been shows to reverse some of the damages. It is still new enough that doctors disagree on dosage levels but the FDA is testing it for higher levels to try to get approvals.
My hubby died from LDS he suffered all his life with migraines he had heart surgery in 2000 before LDS was known about , in 2015 my son died and thats when they looked for the genetic marker and found it since then bith my daughter and g daughter have both been found to have it . All have had migraine like symptoms and some to the point of collapsing suddenly when walking . we were told yes its a marker for LSD
I just found out 3 Months ago that me and my daughter has LDS . I’m 42 she is 18 and scared out my mind . brfore I found out we had such I started going down hill with pain in my joints now can hardly get around which has caused me to gain weight How long can you live with this what is the outcome from this can you get disability for this Can some one help
I too have LDS I’m 56 years old and have had NO surgeries yet, I was diagnosed with Marfans syndrome in 1979 and later (last year) had actual genetic testing that ruled out the marfans syndrome and diagnosed me with LDS what a shock after thinking I had marfans for almost 40 years LDS I believe is worse but at 56 I’m still here I have severe back pain, COPD, arthritis in all my joints and have had pulmonary embolisms, a few times so I’m on blood thinners I believe I’m still here because of being diagnosed with Marfans and being put on beta blockers (metoprolol) at 19 years old so don’t let the so called experts tell u life expectancies are in 20’s I love to have more info if anyone has more updated information please post it or post link take care of yourselves 🙂
The literature states there is a 50% chance of inheriting LDS from a parent. In my family tree it appears that at least 90% of the offspring that could have inherited LDS from a parent have received the mutated gene. It is quite possible that 100% have but that is yet to be determined. And this is from a pool of about 11 people.
Therefore, my question is has any one experiences a family tree where 50% or less of the possible offspring inherited LDS, as in my experience the chance of inheriting LDS is much higher.
Regarding life expectancy, my mother is 89 years old, I’m 60. My brother recently died following aortic dissection repair surgery at the age of 54. We all have LDS. I live in Australia and cannot find appropriate doctors who are experienced with the disorder. Very frustrating.
Hi Lorraine. They run a Marfins clinic at the Prince Charles Hospital in Qld. I am currently being seen there for diagnosis as there are a few disorders with overlapping ailments.