Included in this category are the following conditions, which are often handled by a medical specialist called a rheumatologist:. People with diseases of connective tissue may have symptoms of more than one autoimmune disease. In these cases, doctors often refer to the diagnosis as mixed connective tissue disease. The causes and symptoms of connective tissue disease caused by single-gene defects vary as a result of what protein is abnormally produced by that defective gene.
Ehlers-Danlos syndrome EDS is caused by a collagen formation problem. EDS is actually a group of over 10 disorders, all characterized by stretchy skin, abnormal growth of scar tissue, and over-flexible joints. Depending on the particular type of EDS, people may also have weak blood vessels, a curved spine, bleeding gums or problems with the heart valves, lungs, or digestion. Symptoms range from mild to extremely severe.
More than one type of epidermolysis bullosa EB occurs. Connective tissue proteins such as keratin, laminin, and collagen can be abnormal. EB is characterized by exceptionally fragile skin. The skin of people with EB often blisters or tears at even the slightest bump or sometimes even just from clothing rubbing against it. Some types of EB affect the respiratory tract, the digestive tract, the bladder, or the muscles. Marfan syndrome is caused by a defect in the connective tissue protein fibrillin.
It affects the ligaments, bones, eyes, blood vessels, and heart. People with Marfan syndrome are often unusually tall and slender, have very long bones and thin fingers and toes. Abraham Lincoln may have had it. Sometimes people with Marfan syndrome have an enlarged segment of their aorta aortic aneurysm which can lead to fatal bursting rupture. People with different single-gene problems placed under this heading all have collagen abnormalities along with typically low muscle mass, brittle bones, and relaxed ligaments and joints.
Other symptoms of osteogenesis imperfecta are dependent upon the specific strain of osteogenesis imperfecta they have. These may include thin skin, a curved spine, hearing loss, breathing problems, teeth that break easily, and a bluish gray tint to the whites of the eyes. Connective tissue diseases due to an autoimmune condition are more common in people who have a combination of genes that increase the chance that they come down with the disease usually as adults.
They also occur more often in women than men. These two diseases are related. Polymyositis causes inflammation of the muscles. Dermatomyositis causes inflammation of the skin. Doctors are looking to see whether you could have one of the main connective tissue diseases before diagnosing UCTD.
Your provider will give you a thorough work-up, including a physical exam, blood tests, and sometimes imaging tests and biopsies to home in on what may be causing your symptoms. All autoimmune rheumatic diseases have a set of diagnostic criteria that are used to make a diagnosis, which includes evaluating a physical exam, medical history and blood tests, as well as imaging tests and biopsies in some cases.
A rheumatologist will ask you about your symptoms. For example, you might be asked whether your joint pain or tenderness is worse in the morning or whether your rash gets worse in the sun. Then the doctor will check out any rashes, swollen joints, dry eyes, and other physical signs of your condition. The types of antibodies you have depend on the type of autoimmune disease. For example:. A rheumatologist might also order X-rays to see if there is joint damage, which is a hallmark of both rheumatoid arthritis and UCTD, though this is not as common in UCTD.
You might also have a CT scan to look for lung damage. Your provider will take samples of muscle tissue or from the saliva glands that line your lower lip to check for inflammation.
Whether or not UCTD will progress and ultimately become a different disease is a common question among newly diagnosed patients. When Spanish researchers followed 98 UCTD patients for a number of years, they found that 62 percent of patients continued with a UCTD diagnosis, 24 percent went into remission, and 14 percent eventually got diagnosed with another connective disease.
In Dr. Which connective disease patients will go on to develop sometimes can be apparent with your symptoms. For example, if you have skin rashes or if your kidneys are affected, that might point to lupus. Moore explains. The UCTD diagnosis can have its drawbacks. Getting insurance to cover tests and treatments is yet another issue, he adds.
Although these conditions sound similar, they are different. On the other hand, mixed connective tissue disease MCTD is a mixture or overlap of three different autoimmune rheumatic diseases: lupus, scleroderma, and myositis.
People with MCTD have symptoms and features of all three conditions, either at the same time or over a period of time. Over time, they can develop swollen, arthritic joints and inflammation of the heart and lungs. Patients not only have positive ANAs, but another type of antibody called RNP nuclear ribonucleoprotein , which about half of all lupus patients have also. If you have undifferentiated connective tissue disease, you probably have arthritis or at least achy joints.
Moore notes. Problems in the Muscle damage may cause muscle pain and muscle weakness may cause Raynaud syndrome, joint pains, various skin abnormalities, muscle weakness, and problems with internal organs can develop. The diagnosis is based on symptoms and the results of blood tests to detect levels of characteristic antibodies.
Treatment varies depending on the severity of symptoms and may include nonsteroidal anti-inflammatory drugs, hydroxychloroquine , corticosteroids, immunosuppressive drugs, or a combination.
Many autoimmune disorders affect connective tissue and a variety of organs. Connective tissue Mixed connective tissue disease is more common among women than men. Mixed connective tissue disease occurs worldwide and affects people of all ages, often peaking in incidence during adolescence and the 20s. The cause of mixed connective tissue disease is unknown, but it is an autoimmune disease. These white areas in the fingers are caused by a lack of blood flow due to narrowed blood vessels.
The typical symptoms of mixed connective tissue disease are Raynaud syndrome Raynaud Syndrome Raynaud syndrome, a functional peripheral arterial disease, is a condition in which small arteries arterioles , usually in the fingers or toes, narrow constrict more tightly than normal in Raynaud syndrome may precede other symptoms by many years.
Regardless of how mixed connective tissue disease starts, it tends to worsen, and symptoms spread to several parts of the body. The blue areas cyanosis at the tips of the fingers are caused by decreased oxygen in the blood because of sluggish blood flow due to partial narrowing of the blood vessels.
Lupus-like rashes may develop. Skin changes similar to those of systemic sclerosis also may occur, such as tightening of the finger skin. The hair may thin. Almost everyone with mixed connective tissue disease has aching joints. Mixed connective tissue disease damages the muscle fibers, so the muscles may feel weak and sore, especially in the shoulders and hips. Mixed connective tissue disease MCTD has signs and symptoms of a combination of disorders — primarily lupus, scleroderma, and polymyositis.
Many people with this uncommon disease also have Sjogren's syndrome. For this reason, MCTD is sometimes called an overlap disease. In mixed connective tissue disease, the symptoms of the separate diseases usually don't appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. Early signs and symptoms often involve the hands. Fingers might get puffy, and the fingertips become white and numb, often in response to cold exposure.
In later stages, some organs — such as the lungs, heart and kidneys — can be affected. There's no cure for mixed connective tissue disease. Treatment depends on how severe the disease is and the organs involved.
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