Connective tissue refers to the proteins inside the body that support organs and other parts of the body and include fat, bone and cartilage. Connective tissue disorders (CTD) refer to a group of disorders involving these proteins. The disorders tend to affect joints, muscles and skin, and they can involve eyes, the heart, lungs, kidneys, the gastrointestinal tract and blood vessels. There are more than 200 types of CTD.

One of the most serious impacts of CTD is on the pulmonary system. Understanding how these diseases function is an important part of patient self management.

Causes, Signs and Symptoms of Connective Tissue Disorders

CTDs are caused by specific genetic mutations that adversely affect fibrillin, collagen and elastin protein molecules. There are two major categories of CTDs, inherited and autoimmune, and the signs and symptoms of each particular CTD depends on the type of disorder and associated vascular problems.

Ehlers-Danlos Syndrome (EDS). EDS tends to affect the skin, joints and blood vessel walls. Symptoms can include loose joints, fragile blood vessels, abnormal scar formation and wound healing, and velvety skin that bruises easily.

Marfan syndrome. Problems with the fibrillin gene cause Marfan syndrome. Patients with Marfan syndrome tend to be very tall, thin and loose jointed, and most have heart and blood vessel problems like aorta weakness or leaking heart valves.

Osteogenesis Imperfecta (OI). OI causes the bones to break easily due to genetic issues with collagen production, the protein that keeps bones strong. Patients with OI may also have weak muscles, brittle teeth or a curved spine.

Epidermolysis Bullosa (EB). EB causes the skin to be fragile and easily injured. In many cases, patients with EB develop painful blisters on the skin. For some patients, blisters may even form inside the body in areas such as the mouth, stomach or esophagus.

Meanwhile, certain CTDs are autoimmune, including:

Rheumatoid arthritis (RA). Although RA is more commonly associated with the joints, it can also cause serious complications affecting the lung. Inflammation of the lung lining can lead to painful breathing and shortness of breath due to fluid accumulation in the lungs. Scarring often occurs in patients with inflamed lung lining from RA, and symptoms of this can include chronic cough, weakness and fatigue.

Scleroderma. Around 80% of all scleroderma patients experience lung complications, and the disease can cause inflammation of the lung tissue, lung scarring and injury to the lung’s blood vessels. Feelings of breathlessness and fatigue are common symptoms.

Systemic lupus erythematosus (SLE). Inflammation of the lung lining is the most common pulmonary complication associated with SLE. Fluid build up around the lung and lung tissue scarring can also occur with SLE. Symptoms can include shortness of breath, chest pain, difficulty breathing and coughing.

Vasculitis. Vasculitis, which can affect many different organs in the body, refers to inflammation of the blood vessels. Symptoms can vary greatly based on the affected organ, but general symptoms of vasculitis include fever, headache, fatigue and night sweats.


About 30% of patients with PAD die within 5 years, usually due to an ischemic coronary event.

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Treatments for Connective Tissue Disorders

Treatment options for CTD vary based on the type of CTD the patient has. For example, treatment for a patient experiencing pulmonary complications of RA would involve removing the excess fluid from the lungs and taking medications to reduce inflammation. For patients with scleroderma, failure to seek treatment for vascular symptoms is the leading cause of death.

Patients with CTD should visit their vascular surgeon on a regular basis to monitor their vascular and overall health, including their cholesterol levels. Smoking cessation is also an important component of vascular health, so patients should be sure to ask their vascular surgeon about any recommended programs and treatment options.

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At Vascular Specialists of Central Florida, our vascular specialists, clinical staff and administrative staff are highly trained and able to assist you throughout every aspect of your vascular care.

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