Connective Tissue, Inflammatory Disease and Associated Aortic Conditions
Key takeaways
Connective tissue disorders are conditions that cause fragile connective tissue. Connective tissue is important because it helps provide structure, support, and stability to blood vessels, skin, joints, the musculoskeletal system and organs. There are genetic and non-genetic causes. Hereditary connective tissue disorders are genetic conditions that cause the weakening of connective tissue.
Some connective tissue disorders can increase the risk of aortic aneurysm, aortic dissection and other serious cardiovascular complications.
Early diagnosis, regular imaging and specialized care are important to help prevent life-threatening complications.
Many connective tissue conditions run in families, so genetic counseling and family screening may be recommended.
The UF Health Aortic Disease Center provides specialized care for patients with inherited connective tissue disorders and related aortic disease.
Understanding connective tissue
Connective tissue gives the body the structure and support it needs. Connective tissue strengthens blood vessels, skin, bones, joints and organs. In connective tissue disorders, the proteins that support these structures do not work correctly. Patients can think of it as the “glue” that holds their body together.
Some of these conditions are caused by a gene not working properly, which can be inherited and run in families. Others may develop over time due to inflammation or an autoimmune disease. Some connective tissue disorders can affect the heart’s structure and blood vessel walls, especially the aorta which is the body’s largest artery.
Because these conditions can increase the risk of aneurysm, dissection and valve disease, early diagnosis and lifelong monitoring are important to prevent or monitor aortic disease.
There are many kinds of connective tissue disorders. Genetic connective tissue disorders increase the risk of aneurysms and aortic dissection at younger ages. Some of the most common types of genetic connective tissue disorders are:
Marfan syndrome
Marfan syndrome is a connective tissue disorder that can be passed down through genetics. It affects the heart, aorta, bones, joints and eyes. It is caused by a change in a gene that causes the gene to not work properly, resulting in weakened connective tissue in the body.
People with Marfan syndrome typically appear as tall and thin with long arms, legs, fingers and toes. They can also have a curved spine (scoliosis), flat feet, structural chest differences (pectus excavatum or carinatum), vision problems such as lens dislocation, spontaneous episodes of a collapsed lung (pneumothorax) and enlarged aortas. The condition increases the likelihood of having an aortic dissection which can be life-threatening. People with Marfan syndrome can have different symptoms from one another, even within the same family. Symptoms may include, but are not limited to:
Physical and skeletal appearance
Cardiovascular (heart and blood vessels) symptoms
Vision & eye problems
Skin and lung symptoms
Marfan syndrome can affect both children and adults and often runs in families. There is a 50% chance of a parent passing Marfan syndrome to a child.
Treatment for Marfan syndrome focuses on preventing further complications and closely monitoring the aorta.
Treatment may include:
Blood pressure medications
Routine imaging of the aorta, such as echocardiograms or CT scans
Genetic Counseling
Lifestyle changes
Aortic surgery or preventive aortic surgery when necessary
Because complications can occur earlier in life, ongoing surveillance is important.
Loeys-Dietz syndrome
Loeys-Dietz syndrome (LDS) is a rare genetic connective tissue disorder that can affect the aorta, other blood vessels, heart, bones, joints and skin.
As LDS is a genetic disorder, it is passed along through familial inheritance.
Symptoms of Loeys-Dietz syndrome can vary widely but may include:
Aortic aneurysms
Aortic dissection
Brain aneurysms
Arterial tortuosity (twisting blood vessels)
Widely spaced eyes
Cleft palate or bifid uvula
Flexible joints
Easy bruising
Skeletal abnormalities (chest wall differences, long/slender fingers, tall stature, scoliosis)
Retinal detachment
Some patients may be diagnosed through genetic testing after imaging shows aortic enlargement or after a family member is diagnosed.
The treatment for LDS focuses on reducing stress on the blood vessel walls and closely monitoring the aorta and other blood vessels for aneurysms. Your physician may recommend:
Blood pressure medications
Routine imaging of the aorta and arteries, such as CT scans
Genetic counseling
Lifestyle changes
Aortic surgery or preventive aortic surgery when necessary
Because complications can occur earlier in life, ongoing surveillance is important.
Vascular Ehlers-Danlos syndrome (vEDS)
What Is Vascular Ehlers-Danlos syndrome?
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe type of Ehlers-Danlos syndrome. It affects connective tissue in the blood vessels and organs and causes fragile tissues. It also increases the risk of arterial rupture, aneurysm and dissection.
vEDS is a genetic condition that can affect both children and adults. A person with vEDS has a 50% chance of passing the condition to their child.
Common symptoms of Vascular Ehlers-Danlos syndrome can include:
Aneurysms and dissections in the aorta and other blood vessels
Thin, translucent skin
Easy bruising that is not explained by other causes
Early-onset varicose veins
Joint hypermobility and dislocations
Club foot or hip dislocations at birth
Intestinal rupture (tears in the walls of the intestines)
Uterine rupture for women during pregnancy
Certain facial features (thin lips, narrow nose, small chin and large or deep-set eyes)
Some patients are diagnosed through genetic testing after unexpected vascular complications occur.
There is no cure for vEDS, but close monitoring can help reduce complications. The UF Health Aortic Disease Center can help monitor patients with vEDS through:
Routine vascular imaging
Blood pressure management
Recommending lifestyle changes to avoid injury
Surgery or emergency treatment for vascular complications
Genetic counseling
Other hereditary connective tissue disorders
Some of the other known hereditary connective tissue disorders are:
Familial thoracic aortic aneurysm and dissection
Stickler syndrome
Ehlers-Danlos syndrome (which has 13 different subtypes)
Osteogenesis imperfecta
Cutis Laxa
Frequently asked questions
What are connective tissue disorders?
Connective tissue disorders are conditions that weaken the proteins and structures that support the body, including blood vessels, skin, joints and organs.
Why are connective tissue disorders linked to aortic disease?
These conditions can severely weaken the wall of the aorta, increasing the risk of aneurysm, dissection or rupture.
Are connective tissue disorders inherited?
Yes, many are genetic and can run in families. Genetic counseling and screening may be recommended for relatives.
Can connective tissue disorders be cured?
There is no cure for most inherited connective tissue disorders, but careful monitoring and treatment can help manage symptoms and reduce complications.
When should someone seek a genetic consultation for a connective tissue disorder?
Patients should seek evaluation if they have:
A family history of aortic or arterial aneurysm of unknown cause
A family history of aortic or arterial dissection of unknown cause
A family history of a known genetic connective tissue disorder
Unexplained aortic enlargement
Aortic aneurysm or dissection diagnosed at a young age (typically under age 60)
Symptoms of a syndromic connective tissue disorder like Marfan syndrome, Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome
Specialized connective tissue disease and aortic care at UF Health
The UF Health Aortic Disease Center provides comprehensive care for patients with connective tissue disorders and associated aortic disease. Our multidisciplinary team includes cardiovascular surgeons, vascular surgeons, genetic counselors, clinical care coordinators, radiologists and advanced imaging providers experienced in managing complex inherited conditions.
UF Health offers:
Advanced imaging and surveillance
Genetic counseling and family screening
Specialized aortic and valve surgery
Long-term monitoring and medical management for patients with inherited aortic disease
Genetic counseling for connective tissue disorders and associated aortic disease
For those with genetic connective tissue disorders, the UF Health Aortic Disease Center offers genetic counseling to families affected by these conditions. Genetic counseling can help patients understand the full extent of their condition and what it means for them and their families.
If you or a loved one may be at risk for connective tissue-related aortic disease, contact the UF Health Aortic Disease Center by calling (352) 273-5494 to learn more about diagnosis, treatment and ongoing care.
This entry was written by Gabrielle Massari, Marketing Content Writer, and reviewed for accuracy by Eric Jeng, MD. Generative AI was leveraged as part of the content creation process.