Sarcoidosis is a rare condition associated with the formation of granulomas in various organs and tissues. Granulomas are clumps of cells that are involved in inflammation, an immune response to infections characterized by swelling and heat. The granulomas can build up and prevent the normal function of organs, and can cause permanent damage if left untreated.
Sarcoidosis can affect almost any part of the body, and depending on where it occurs, patients can experience very different symptoms and require different treatment methods. Additionally, a patient may experience more than one type of sarcoidosis at once. Some of the common types are discussed here.
Pulmonary sarcoidosis refers to sarcoidosis affecting the lungs. This is the most common form, since the majority of sarcoidosis patients experience some level of lung involvement.
Granulomas can affect normal lung function and lead to shortness of breath, a persistent cough, chest pains, and wheezing. The inflammation caused by sarcoidosis may lead to scarring and permanent damage to the lungs, if untreated, and complications such as bronchiectasis may occur.
Ocular sarcoidosis refers to sarcoidosis affecting the eyes or the surrounding structures. It occurs in about 50 percent of sarcoidosis patients. The symptoms can vary depending on which parts of the eye are affected, with the most common complication being uveitis.
Uveitis involves redness, swelling, and pain in the eyes, and can cause vision abnormalities such as floaters. If left untreated, ocular sarcoidosis can lead to complications such as glaucoma and cataracts that can cause vision loss.
When granulomas develop in and around the nervous system, the disease is referred to as neurosarcoidosis. This type is rarer, affecting about 5 to 15 percent of sarcoidosis patients, but it can be extremely debilitating. Depending on the nerves affected, it can have a wide variety of symptoms.
Neurosarcoidosis most commonly affects hormone-producing regions of the brain, the hypothalamus and the pituitary gland. This can disrupt many systems, such as menstrual cycles in female patients.
Neurosarcoidosis can also affect the peripheral nerves and lead to problems with motor function, such as muscle weakness or numbness. Granulomas around the optic nerve can lead to vision loss.
When sarcoidosis affects the heart, the condition is referred to as cardiac sarcoidosis. While cardiac sarcoidosis occurs in a third of sarcoidosis patients, only around 5 percent will experience symptoms. These include irregular heartbeat, or arrhythmia, as the granulomas disrupt the electrical signals that trigger the contraction of the heart muscle.
Musculoskeletal sarcoidosis refers to sarcoidosis affecting the bones, muscles, or joints.
Sarcoidosis can cause inflammation in the bones, but this normally does not cause symptoms. Some sarcoidosis medications, such as prednisone, can also cause the bones to become more fragile and prone to breaking (osteoporosis). A physician can monitor the density of the bones to check for any developing issues.
Inflammation of the joints can cause arthritis-like symptoms, which can restricting a patient’s range of movement and cause pain. Most commonly the feet, ankles, and knees are affected. Chronic joint problems are rare in sarcoidosis, but patients can experience acute symptoms.
Acute joint problems, which come on suddenly and fade with time, include Löfgren’s Syndrome, a mild form of sarcoidosis that often doesn’t require medication to be resolved. It is generally associated with swelling of the joints and painful bumps on the shins, called erythema nodosum.
Muscle sarcoidosis is rare and usually asymptomatic. In about 1 percent of cases, symptoms may occur, including chronic muscle weakness, as the granulomas compress and damage the surrounding muscles, or a painful tumor-like lump in the muscles, caused by clumps of cells.
Sarcoidosis can cause several skin complications, occurring in about 20-35 percent of patients. Examples include:
- Erythema nodosum, or acute painful red lumps on the lower legs or arms
- Lupus pernio, associated with chronic, painful blue lesions or discoloration on the face, ears, fingers, or toes
- Lesions, on the extremities, face, scalp, back, and buttocks, which can vary in severity from relatively painless lumps and rashes to more severe plaques where multiple lesions have occurred together in the same location.
Sarcoidosis can lead to kidney stone formation, kidney damage, or kidney failure. This can be due to sarcoidosis causing changes in calcium metabolism, resulting in too much calcium in the blood (hypercalcemia). Inflammation, caused by granulomas in the kidneys, can cause scarring and permanent kidney damage.
Liver involvement, called hepatic sarcoidosis, is common. However, this rarely affects organ function. In rare cases, it can cause cirrhosis (liver disease), or portal hypertension (high blood pressure in the liver).
Sarcoidosis of the spleen and bone marrow
Sarcoidosis of the spleen and bone marrow can result in cytopenia — or low blood cell counts. Bone marrow is involved in the production of blood cells, so when sarcoidosis affects the bone marrow, this can lead to abnormalities such as anemia, or low red blood cells. The spleen is involved in filtering out blood cells, and if is not functioning correctly, too many, or the wrong type of blood cells, can be removed.
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