Study to Investigate the Development of Lung Disease in Connective Tissue Disorders

A study record from is investigating the appearance of lung problems in patients with disorders affecting connective tissue. While prior research has documented the appearance of interstitial lung disease (ILD) and pulmonary hypertension in patients with disorders affecting the connective tissue, many questions still remain about the nature of these conditions, such as the best management strategies and their prevalence among patients.

About Connective Tissue Diseases

Connective tissue diseases are variable in their nature and can include certain cancers as well as genetic disorders such as Marfan syndrome and Ehlers-Danlos syndrome. Another example is systemic sclerosis, which is probably most strongly associated with lung manifestations.

Marfan syndrome is a genetic disorder which affects connective tissue. The severity of symptoms can vary from person to person. People with Marfan syndrome tend to be tall and thin, with distinctively long limbs, hands, feet, and digits. To learn more about Marfan syndrome, click here.

Ehlers-Danlos syndrome is a group of disorders that affect connective tissue. There are several different types which have varied symptoms and are linked to different genetic mutations. Symptoms can include loose joints, stretchy skin, scarring, pain, aoritic dissection, scoliosis, and osteoarthritis. With no cure currently available, the treatment of these syndromes is supportive and based on symptoms as they appear. To learn more about Ehlers-Danlos syndrome, click here.

Systemic sclerosis, which is also referred to as scleroderma, describes a group of autoimmune diseases that can cause system-wide effects in the most severe cases. Symptoms are broad ranging and systemic, including kidney failure, erectile dysfunction, fatigue, stroke, headaches, facial pain, congestive heart failure, skin abnormalities, high blood pressure, chest pain, indigestion, and many more. To learn more about systemic sclerosis, click here.

About The Study

The ultimate goal of this study is the creation of a registry of connective tissue disease patients so that interstitial lung disease and pulmonary hypertension can be studied more closely in these diseases. The study aims to collect long term data over a period of ten years. Scientists hope to utilize information from the registry for a variety of purposes, such as the identification of disease mechanisms (inflammation vs other pro-fibrotic stimuli, for example), determining the best time for intervention, and identifying the characteristics of patients that are experiencing progressive disease. The study is expected to include 120 patients.


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