Connective tissue diseases have symptoms such as joint pain, muscle weakness, and swelling. Treatment options vary depending on the disease and its severity, but management is the goal as many are incurable. Diagnosis can be difficult as symptoms can be mistaken for other things, but a physical exam and evaluation can help.
Symptoms of connective tissue disease include joint pain, muscle weakness, and swelling of the extremities. Individual connective tissue diseases may pose other warning signs that can be helpful when developing a diagnosis and creating a treatment plan. Patients with connective tissue disease have a variety of treatment options, depending on the disease, its severity, and when it’s diagnosed. Many of these diseases are not curable and the goal of treatment is appropriate management.
These disorders all involve dysfunction in the connective tissues of the body, due to things like collagen breakdowns. Hereditary connective tissue disorders include Ehlers-Danlos syndrome, Marfan syndrome, and pseudoxanthoma elastica. People can also get diseases like scurvy, polymyositis, rheumatoid arthritis, and systemic lupus erythematosus. Symptoms of connective tissue disease vary, depending on the exact disorder and its severity, and can appear at any time during a patient’s life, from infancy to old age.
Patients with connective tissue disease commonly experience joint pain, soreness, muscle weakness, bruising, and numbness in the extremities. They may have difficulty chewing and swallowing and may develop Raynaud’s phenomenon, in which the blood vessels that supply blood to the hands and feet contract, causing blood flow to be restricted. Symptoms of connective tissue disease commonly include fatigue and a general feeling of being unwell. Some patients experience lung problems due to decline in lung function caused by breaks in the connective tissue.
When a doctor identifies symptoms of connective tissue disease, the patient can be evaluated for additional symptoms that can help narrow down a diagnosis. A family history of the disease may be relevant. Muscle biopsies may be done to look for telltale signs of disease. This information is gathered to determine what types of treatments are most appropriate, including anti-inflammatory medications, pain management medications, and physical therapy to build joint strength and flexibility.
Symptoms of connective tissue disease sometimes come on very slowly and can be mistaken for other things. People who feel tired or exhausted may not connect their feelings of sickness with low-level joint stiffness and muscle weakness. People who notice significant changes in their levels of fitness, energy, and feelings of well-being may want to ask to see a doctor for a physical exam and evaluation to explore possible causes. Even a failure to identify a problem during an initial exam doesn’t mean a patient is necessarily fine; sometimes diagnosing a problem takes time because symptoms are initially vague and undifferentiated.
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