Connective tissue is the glue that holds cells in your body together. As with every other part of your body, sometimes there's something medically wrong with connective tissue. Since connective tissue is found throughout your body, symptoms of connective tissue disorders can seem unrelated. This means that it could take a long time to find the correct diagnosis. If you seem to have a multitude of health problems, you may want to consider whether or not you may have a connective tissue disorder.
Connective Tissue Disorders
When it comes to connective tissue problems, it's usually attributed to a gene variation or mutation that affects proteins in connective tissue, including fibrillin-1, tenascin, and collagen. Here are 3 genetic connective tissue disorders that can be inherited.
Marfan Syndrome. There is a specific gene that tells your body how to make fibrillin-1. When this gene is defective, the mutation causes another protein called transforming growth factor beta to increase in production. It's estimated that about 1 in 5,000 people have this condition. Austin Carlile, the singer of Of Mice & Men, spent roughly four weeks in the hospital due to Marfan syndrome, which shows how serious this condition can be. Each person with this condition can be affected in different ways, which is called variable expression. People with Marfan syndrome may be tall and thin and have features such as long arms and legs, flexible joints, and/or a curved spine. Marfan syndrome can also affect the cardiovascular system, including the heart. Eye and lung problems can also occur in someone who has Marfan syndrome.
Ehlers-Danlos Syndrome. Another connection tissue disorder is called Ehlers-Danlos syndrome. In this type, researchers believe a protein called tenascin is abnormal, which causes collagen to be frail. Due to the fragility of collagen in people with Ehlers-Danlos syndrome, they can suffer from a wide range of symptoms, including joint dislocations, abnormally stretchy skin, fragile arteries and intestines that can easily rupture, misaligned vertebrae, eye problems, low muscle tone, and fragile skin, depending on which of the six types of Ehlers-Danlos syndrome the individual has. Sometimes, there are problems with the autonomic system, which controls things you do without thinking, such as breathing, heart rate, and blood pressure. People with Ehlers-Danlos can have compromised immune systems and gastrointestinal disorders as well.
Osteogenesis imperfecta. Mutations in genes which make collagen can cause bones to be brittle and fragile. Symptoms of osteogenesis imperfecta can be different from one person to the next, even within the same family. However, symptoms can include bones that fracture easily, loose joints, muscle weakness, brittle teeth, spinal curvature, hearing loss, misshapen rib cages, discolored whites of eyes, and/or respiratory problems, depending on the type of osteogenesis imperfecta.
Diagnosis & Treatment
For a proper diagnosis of a connective tissue disorder that is genetic, your primary care physician can refer you to a geneticist. The geneticist will ask you a lot of questions regarding your medical history as well as your family's medical history. If he or she believes you may have a genetic connective tissue disorder, you will be tested via a skin sample or blood test. The geneticist will view the samples under a microscope to see if there are any genetic mutations.
If you are diagnosed with any form and type of a connective tissue disorder, your primary care physician can help manage your case by referring you to various medical professionals and specialists. Unfortunately, there are no cures for connective tissue disorders as the mutations have already taken place while you were in your mother's womb. However, your health can only be managed properly with the right diagnosis, so it's important to consider the possibility of a connective tissue disorder if you seem to have a wide range of health problems.
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