Common types of connective tissue disorders to know about
Connective tissue disorders are a group of diseases related to the protein-rich tissue that supports the organs of the body. Connective tissues include cartilage, bone, and fat. Generally, connective tissue disorders involve the skin, muscles, and joints. In certain cases, organs such as the heart, eyes, lungs, blood vessels, gastrointestinal tract, and the kidneys are also affected. There are at least 200 known connective tissue disorders. The causes and symptoms of each disorder vary from another. Here are a few known types of connective tissue disorders.
Inherited connective tissue disorders
Some connective tissue disorders are inherited; they affect an individual due to changes in certain genes. These types of disorders are called heritable disorders of connective tissue (HDCTs). These forms of disorders of the connective tissue are quite rare. Here are some of the common types of HDCTs:
- Ehlers-Danlos Syndrome (EDS): This is a group of more than 10 connective tissue disorders. Some of the notable signs of this group of disorders are abnormal growth of scar tissue, stretchy skin, and over-flexible joints. Symptoms have been observed to be mild and, in some cases, even disabling. The common symptoms include weak blood vessels, bleeding gums, curved spine, and complications in the lungs, heart valves, and the digestive system.
- Marfan syndrome: This syndrome affects the blood vessels, ligaments, eyes, bones, and the heart. It is caused by mutations in the gene regulating a protein structure known as fibrillin-1. One of the most significant symptoms of this disorder is extremely long bones, People with this syndrome are quite tall. Their fingers and toes are thin and “spider-like”. Other signs include problems with vision as the eye lens are not placed normally. Additionally, they may have an enlarged aorta. This may lead to a fatal rupture.
- Epidermolysis Bullosa (EB): This form of connective tissue disorder is caused by mutations in several proteins present in the skin. Generally, EB is congenital. This disorder makes the skin very fragile. It starts to tear or blister even if there is a minor bump, friction from clothing, or stumble. In some cases, it also affects the bladder, muscles, respiratory tract, and digestive tract.
- Osteogenesis imperfecta: This disorder is caused by the mutation in the two genes that generate type 1 collagen. The mutation lowers the amount and quality of the protein. Type 1 collagen is essential for the proper structure of skin and bones. This type of connective tissue disorder leads to low muscle mass, brittle bones, and lax ligaments and joints. Other symptoms include thin skin, curved spine, gray or blue tints in the whites of the eyes, hearing loss, breathing problems, and brittle teeth.
Autoimmune connective tissue disorders
There are other forms of connective tissue disorders whose causes are unknown. These are often triggered by the environment of a person who is genetically susceptible to the specific disorder. Their immune system creates antibodies that attack the body’s own tissues. Some of the known autoimmune connective tissue disorders include dermatomyositis, rheumatoid arthritis, systemic lupus erythematosus, scleroderma, Sjogren’s syndrome, and vasculitis.
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