Connective tissue disorders are complex genetic conditions that affect the make-up of connective tissue. Connective tissue is important for providing strength and flexibility to structures throughout the body. Conditions in these tissues can lead to symptoms in the blood vessels, eyes, bones, heart, skin, joints, and more. Significant advancements in genetic testing have contributed to understanding of the cause, management, and treatment of vascular connective tissue disorders, which include Ehlers-Danlos syndrome, Marfan syndrome, and Loeys-Dietz syndrome.
EDS refers to a group of connective tissue disorders with genetic mutations that affect collagen structure and function. EDS affects approximately 1 in 5,000 births and can be discovered at various ages depending on the symptoms and signs that prompt evaluation and diagnosis. There are 13 different types of EDS with distinct clinical signs. The vascular subtype of EDS can lead to arterial aneurysms — when the blood vessel wall weakens and enlarges — and dissections — tears in the blood vessels.
Symptoms
Joint hypermobility is the most common feature of EDS. Another EDS symptom is skin that is highly elastic or fragile. Vascular symptoms of EDS can include visible veins, spider veins, or multiple bruises.
MS affects fibrillin, a crucial protein of connective tissue. MS is estimated to affect approximately 1 in 5,000 patients. MS commonly involves the cardiovascular, eye, and skeletal systems. Patients with Marfan syndrome have a higher risk of aortic aneurysm and dissection.
Symptoms
MS symptoms include:
- Tall height and low body mass index (BMI)
- Long limbs with increased arm span to height ratio
- Positive wrist sign (the thumb and index finger overlap when wrapping around the other wrist)
- Positive thumb sign (the thumb extends past the fist when making a fist around the thumb)
- Spinal curvature: scoliosis or hunched back
- Facial features that include elongated head, small cheek bones, small lower jaw, sunken or down-slanting eyes
- Joint laxity with unusually flexible joints and pain
- Chest sinks in or sticks out
- Poor vision and need for eye glasses
LDS is caused by gene mutations that lead to a diverse presentation of cardiovascular, facial, skin, and skeletal features. Since this syndrome was first described in 2005, there have been five subtypes of LDS classified with unique characteristics. However, the full spectrum of LDS is not yet fully understood.
Symptoms
LDS symptoms include:
- Eye abnormalities, such as widely spaced eyes or blue-tinged whites of the eyes
- Split or wide uvula, which is the piece of flesh at the back of the mouth
- Small underdeveloped jaw and misaligned teeth
- Skin features, which include translucent skin, velvety skin, easy bruising, abnormal scarring
- Unusually flexible joints
- Abnormally long limbs
- Curved spine
- Clubfoot or flat foot
- Learning disability
Talk to a Doctor
Multiple heath care professionals can be involved in treating patients with connective tissue disorders. These professionals include:
- Rheumatologists, physical therapists, and occupational therapists to manage musculoskeletal problems
- Ophthalmologists and orthopedists to treat eye and skeletal problems
- Genetic counselors to screen family members and inform patients of the risks of passing the mutation to children
- Vascular surgeons to treat and prevent aneurysms and dissections
Diagnosis
If a doctor thinks a patient has a connective tissue disorder based on history and physical examination, they will order genetic testing. This involves swabbing the patient’s inner cheek to obtain DNA that can be sent to a laboratory specializing in genetic testing.
Role of Vascular Surgeon
To manage and treat connective tissue disorders, vascular surgeons work with an interdisciplinary team, which includes cardiac surgeons, cardiologists, physical and occupational therapists, and genetic counselors.
Treatment for patients diagnosed with connective tissue disorders might include lifestyle modifications, such as avoidance of contact sports, heavy lifting, and high-intensity interval training. Patients with these disorders also should avoid quinolone antibiotics, which can weaken the aorta. As an additional precaution, patients should carry an emergency card with details of the condition and instructions for care.
Patients should have regular check-ins with their medical providers. Blood pressure medication may be prescribed to slow down dilation of the aorta.
Surgery may be recommended to prevent rupture or dissection of the blood vessels if they are noted to be growing over time. A vascular surgeon might recommend open surgery or minimally invasive surgery through the blood vessels, depending on multiple patient factors. Furthermore, musculoskeletal surgery may be required in cases of severe scoliosis or chest wall deformities that affect breathing or heart function.