Connective tissue is the matrix – or core element – that keeps the cells of our body together. It not only gives form and strength to the body as a whole, but creates a dynamic environment for cells to interact.

Connective tissue is composed of:

• Cells
• Protein fibers (three main protein fibers are collagen, elastin, and reticular fibers)
• An amorphous (shapeless) substance

Diseases of connective tissue can be divided in two groups:

1. acquired autoimmune and inflammatory diseases that usually happen later in life
2. hereditary connective tissue disorders that are caused by a genetic defect that people have when they are born

What are hereditary connective tissue disorders (HCTD)?

HCTD are a large group of inherited disorders with significant clinical and genetic diversity. These disorders are usually caused by defects in genes that encode primary components of connective tissue, such as collagen and elastin. Some of these conditions affect body shape, some affect how this matrix functions, or both.

There are more than 200 conditions that fall under the umbrella of HCTD. The most known HCTDs are Marfan and related syndromes, Ehlers Danlos Syndromes, and osteogenesis imperfecta. Each of these syndromes has various types, and sub-groups. Often, these conditions have overlapping symptoms and treatments. With advancements in genetic technologies, newer types of HCTDs are discovered.

Connective tissue is the most abundant and widespread primary tissue in the body.

The main organs involved are the musculoskeletal system, cardiovascular system, eye, and skin.

Musculoskeletal

• Weakness of the joints and tendons that present with joint dislocations, subluxations, and pain
• Stiffness or contracture of joints
• Skeletal deformity including spine deformity (neck pain, scoliosis, kyphosis), short stature, deformity of hands, feet and ankles, and, in some conditions, deformity of the head and face. These deformities may cause early onset osteoarthritis.
• Problems in formation and growth of the bone, such as brittle bone and frequent fractures, osteoporosis and osteopenia, or weakness and deformity of the teeth

Cardiovascular

• Dilatation and rupture of vessels due to weakness of the blood vessels, tortuosity (or twisted nature) of the vessels and varicose veins. These abnormalities may present with easy bruising and formation of clots
• Abnormality of the heart valves

Eye

• Myopia
• Lens dislocation
• Retinal detachment
• Corneal abnormality (keratoconus)
• Strabismus (crossed eyes)
• Blue sclera

Skin

• Loosening and redundancy of the skin
• Poor healing
• Abnormal scarring
• Widespread stretch marks

Connective tissue is everywhere in the human body; therefore, it can involve any body organ.

Other organ involvements are:

• Muscle weakness
• Rupture of hollow organs like uterine or gut
• Lung involvement
• Neurological involvement
• Hearing loss
• Abdominal and inguinal hernias

As such, management of these conditions requires a multidisciplinary team.

Some of the most well-known HCTDs are:

• Marfan and Marfan-like syndrome
• Ehlers Danlos syndromes (which has 14 different subtypes)
• Loeys Dietz syndrome
• Osteogenesis imperfect
• Cutis Laxa
• Stickler syndrome
• Thoracic aortic artery dilatation and dissection

If you or your child have any of these symptoms, you should make an appointment for thorough evaluation and genetic testing:

• Deformity of any joint or spine deformity (severe scoliosis, kyphosis, and lordosis)
• Unusually short or tall stature
• Skin hyperextensibility (skin stretches more than usual)
• Tissue fragility, poor healing and easy bruising
• Aortic dilatation/dissection, tortuosity of vessels
• Rupture of gut or uterine; unexplained infarction of an organ
• Multiple fractures caused with minor or no trauma
• A family member with these medical problems
• Lens dislocation or abnormality of the cornea (keratoconus)
• Spontaneous or recurrent collapse of the lung
• Joint hypermobility (joints stretch more than usual), pain in multiple joints, joint instability, and joint stiffness
• Hearing loss

Why Choose UHealth?

Established expertise. Led by medical geneticist Dr. Irman Forghani, UHealth has established a multidisciplinary hereditary connective tissue disorder clinic to provide the best care for our patients. At this clinic, there is a group of highly skilled healthcare professionals from different fields to evaluate, diagnose, and coordinate care for patients with HCTD from all over the United States and other countries.

Recognized by patient advocacy groups. We are recognized by the Marfan Foundation and Ehlers Danlos Society, the two largest patient advocacy groups, as a tertiary care center for these conditions.

We’re here to help through every step. Our team helps you schedule appointments, with pre-visit preparation, diagnostic assessment and management, and required follow-ups. Patients will receive a thorough clinical evaluation and genetic testing. To make it most accessible to our patients, we provide telehealth visit for follow up and for testing family members who may be at risk.

Experts from every specialty. The UHealth multidisciplinary HCTD clinic consists of a clinical geneticist, pediatric/adolescent cardiologist, adult cardiologist, genetic counselors, a registered nurse, and medical assistants. We also work closely with other experts familiar with hereditary connective tissue disorders from multiple disciplines such as neurosurgery, gastroenterology, pain management, physical medicine and rehabilitation, physical therapy, orthopedic surgery, obstetrics and gynecology, neurology, urology, and psychiatry.

Genetics means family. We’re here for your family too. Once the diagnosis is established, we will coordinate the care for the patient as well as clinical and genetic assessment and testing for other family members who may be at risk.