Cysts can be caused by a variety of factors, including genetics, infections, and autoimmune diseases. Autoimmune diseases occur when the immune system attacks the body’s own healthy cells and tissues. Several autoimmune diseases are associated with the formation of cysts in different parts of the body.
Hashimoto’s Thyroiditis
Hashimoto’s thyroiditis is an autoimmune disease that affects the thyroid gland. It is the most common cause of hypothyroidism in the United States. In Hashimoto’s thyroiditis, the immune system makes antibodies that attack the thyroid gland, causing inflammation and damage over time. This can lead to an underactive thyroid gland that doesn’t produce enough thyroid hormone.
One of the hallmarks of Hashimoto’s thyroiditis is the formation of thyroid cysts. Thyroid cysts are fluid-filled sacs that form within the thyroid gland. They are often caused by inflammation, scarring, and damage to the thyroid tissue from the autoimmune attack. Women are much more likely to develop thyroid cysts with Hashimoto’s than men.
Thyroid cysts usually do not cause any symptoms initially. Over time, larger cysts may cause a swelling or lump in the neck that can be felt. They may also compress the windpipe or esophagus, leading to breathing or swallowing difficulties. Most thyroid cysts do not require treatment, but larger ones may need to be drained surgically or with aspiration.
Diagnosis
Hashimoto’s thyroiditis is diagnosed through blood tests that measure levels of thyroid hormones, as well as antibodies associated with the disease such as thyroid peroxidase (TPO) antibodies. Ultrasound of the thyroid can detect cysts and other abnormalities.
Treatment
Treatment for Hashimoto’s focuses on replacing thyroid hormone to correct the hormone deficiency. Thyroid hormone replacement medications such as levothyroxine are usually taken for life. Close monitoring of thyroid function through blood tests helps tailor the hormone dose. There are no medications that can stop the immune system attack on the thyroid.
Polycystic Ovary Syndrome (PCOS)
Polycystic ovary syndrome (PCOS) is a common hormonal disorder affecting women of reproductive age. Women with PCOS produce higher than normal levels of male hormones called androgens. This hormone imbalance causes abnormalities in the ovaries, including the development of numerous small, fluid-filled cysts.
The cysts associated with PCOS are located in the ovaries and can be identified on ultrasound. The numerous small cysts give the ovaries a characteristic “polycystic” appearance. The cysts develop when the ovaries are unable to properly mature eggs for ovulation. During a normal menstrual cycle, one egg develops in a fluid-filled sac called a follicle. The follicle should rupture and release the mature egg when ovulation occurs. In PCOS, these follicles do not rupture and continue to grow into cysts instead.
While ovarian cysts do not usually cause symptoms, PCOS may result in irregular periods, excess hair growth on the face and body, acne, and weight gain. It can also cause infertility due to lack of ovulation. PCOS is related to insulin resistance and type 2 diabetes risk.
Diagnosis
PCOS is diagnosed based on a combination of signs and symptoms, ultrasound imaging of the ovaries, and blood tests. Imaging reveals the presence of multiple ovarian cysts. Blood tests assess hormone levels including testosterone, as well as insulin resistance.
Treatment
Because PCOS is a chronic condition, treatment focuses on managing symptoms. Birth control pills and other hormonal medications can help regulate menstrual cycles and reduce excess hair growth. Diabetes medications such as metformin may be used to improve insulin sensitivity. Weight loss through diet and exercise helps balance hormones. Infertility treatment may be needed to help women with PCOS become pregnant.
Rheumatoid Arthritis
Rheumatoid arthritis (RA) is an autoimmune disorder characterized by chronic inflammation of the joints and other body systems. It is one of the most common autoimmune diseases, affecting over 1 million adults in the United States.
The chronic inflammation of RA can affect the lining tissues of joints (synovium), causing painful swelling, stiffness, and damage over time. The most commonly involved joints include the hands, wrists, and knees. RA can also affect other tissues throughout the body.
Rheumatoid lung nodules are firm lumps or lesions that can develop in the lungs of people with RA. Many lung nodules are asymptomatic while some may become large enough to cause coughing or chest pain. Rheumatoid lung nodules are usually benign cysts filled with fluid or fibrous tissue. Smoking significantly increases the risk of developing these pulmonary nodules.
Diagnosis
A diagnosis of RA is made based on a person’s signs and symptoms, blood tests (for rheumatoid factor and anti-CCP antibodies), and imaging of the affected joints. Lung imaging such as CT scans reveal rheumatoid lung nodules.
Treatment
There is no cure for rheumatoid arthritis, but medications can help slow the progression of joint damage. Disease-modifying anti-rheumatic drugs (DMARDs) like methotrexate are used to suppress the overactive immune system. Biologics like etanercept (Enbrel) block inflammatory proteins. Corticosteroids help reduce joint swelling and pain. Lung nodules may be monitored or surgically removed if they are causing issues.
Sjögren’s Syndrome
Sjögren’s (SHOW-grins) syndrome is an autoimmune disorder affecting the glands that produce moisture. The hallmark symptoms are dry eyes and dry mouth, but it can affect other parts of the body as well.
In Sjögren’s syndrome, the immune system mistakenly attacks the glands that secrete tears (lacrimal glands) and saliva (salivary glands). Chronic inflammation damages these moisture-producing glands, significantly reducing secretions. This leads to the development of dry eyes and dry mouth.
The dryness of Sjögren’s syndrome can increase cavity risk and eye infections. Inflammation in other tissues may cause joint pain, dry skin, fatigue, and neuropathy. Some patients develop cysts in their salivary glands called Sjögren’s cysts, which appear as swollen areas on the face in front of the ears.
Diagnosis
Doctors may suspect Sjögren’s syndrome based on symptoms of dry eyes and dry mouth along with blood tests for antibodies associated with the disease. Imaging tests like sialography can show obstruction of the salivary glands. A lip biopsy of minor salivary glands can help confirm lymphocytic inflammation.
Treatment
Treatment focuses on relieving symptoms and preventing complications. Lubricating eye drops, drinking plenty of fluids, saliva substitutes, and humidifiers can help moisten the eyes and mouth. Prescription medications boost saliva production in some patients. Corticosteroids and immunosuppressants may be used to reduce gland inflammation.
Multiple Sclerosis
Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system. In MS, the immune system attacks the protective myelin sheath surrounding nerve fibers, causing damage and disruption of nerve signaling.
Multiple sclerosis causes various neurological symptoms that can wax and wane over time. Common symptoms include visual disturbances, muscle weakness, numbness, fatigue, and problems with coordination or balance.
Some people with MS develop tumor-like cysts filled with fluid called tumefactive MS lesions. These cysts form within areas of severe inflammation in the brain or spinal cord. They may range from a couple centimeters to several centimeters in size. Many are asymptomatic, but larger lesions can mimic brain tumors and cause headaches, seizures, or neurological deficits.
Diagnosis
MS can be challenging to diagnose, but often involves MRI to detect MS plaques and cysts, tests of cerebrospinal fluid, and ruling out other conditions. Distinguishing MS cysts from malignant brain tumors often requires biopsy.
Treatment
There is no cure for multiple sclerosis, but DMTs (disease-modifying therapies) can reduce flare-ups and delay progression. Corticosteroids treat acute MS relapses. Specific treatments for tumefactive MS lesions may include surgical drainage, corticosteroid injection, or radiation therapy.
Autoimmune Pancreatitis
Autoimmune pancreatitis is a rare form of chronic pancreatitis caused by autoimmune inflammation of the pancreas. For reasons not fully understood, the immune system attacks the pancreas, causing persistent inflammation and scarring that impairs the organ’s function.
The most common symptom is abdominal pain, along with nausea, weight loss, and fatty stools. As damage to the pancreas worsens, patients may develop diabetes due to impaired insulin production. Autoimmune pancreatitis can also lead to the formation of benign pancreatic cysts.
Pancreatic cysts associated with autoimmune pancreatitis are fluid-filled sacs that develop within areas of severe inflammation. They are often mistaken for pancreatic cancer cysts, but do not have malignant potential. However, they may sometimes require drainage if large enough to obstruct the pancreatic duct.
Diagnosis
Diagnosis involves blood tests for pancreatic antibodies, imaging by CT scan or MRI to visualize pancreatic cysts, and sometimes biopsy. Testing for the IgG4 antibody can help confirm autoimmune pancreatitis and distinguish it from cancer.
Treatment
Treatment of autoimmune pancreatitis centers around corticosteroid drugs to reduce inflammation. Azathioprine or other immunosuppressants may be added. Symptoms of pain and diabetes should be managed. Pancreatic cysts are usually not removed unless complications develop.
Peyronie’s Disease
Peyronie’s disease is an acquired connective tissue disorder causing bent or deformed erections. It results from inflammation and scarring (fibrous plaques) on the tunica albuginea, the fibrous sheath surrounding the penile chambers.
The scarring and inflammation of Peyronie’s disease can cause painful erections and penile deformities or shortening. In some cases, hard nodules or cyst-like lumps may be felt within the penile scar tissue. These nodules represent localized regions of severe inflammation.
Men with Peyronie’s disease may also develop narrowing or blockages of the erectile tissue due to excessive scar formation. This leads to erections that bend or curve, sometimes severely. The curvature makes sexual intercourse difficult or impossible in advanced cases.
Diagnosis
Peyronie’s disease is diagnosed through a medical history and physical exam of the penis. Imaging tests such as ultrasound or MRI may reveal plaque formations and fibrotic nodules/cysts. Identifying and monitoring the progression of the fibrous plaques helps guide treatment.
Treatment
Mild Peyronie’s disease may resolve spontaneously over time. Medications like verapamil, steroids, or collagenase injections may help soften plaques and reduce penile curvature. Severe curvature often requires surgery to straighten the penis by removing or incising the fibrous tissue.
Behçet’s Disease
Behçet’s (beh-CHETS) disease is a rare autoimmune disorder characterized by inflammation of the blood vessels throughout the body. It causes recurrent oral and genital ulcers, skin inflammation, and eye problems.
People with Behçet’s disease often develop painful mouth and genital sores that come and go. These result from inflammatory damage to mucosal blood vessels. Severe eye inflammation (uveitis) occurs in many cases, damaging intraocular tissues.
Some patients with Behçet’s disease develop large cyst-like lesions called epididymal cysts. These cysts are believed to arise from inflammation-related blockage of the ducts carrying sperm out of the testicles (epididymis). The epididymal cysts can become tender or swollen during disease flares.
Diagnosis
Diagnosis is based on the characteristic symptoms and blood tests for inflammatory markers. Scrotal ultrasound can detect epididymal cysts in men. However, there is no specific test for Behçet’s disease.
Treatment
There is no cure for Behçet’s disease, so treatment aims to relieve symptoms and limit flares. Colchicine and anti-TNF drugs help reduce inflammation. Painful genital cysts may be surgically removed if they persist or enlarge. Immunosuppressants are used for severe manifestations.
Dermatomyositis
Dermatomyositis is an inflammatory autoimmune disease affecting the muscles and skin. It causes muscle weakness, rashes on the face and hands, and sometimes internal organ involvement.
In dermatomyositis, the immune system mistakenly attacks the small blood vessels (capillaries) that supply the muscles and skin. This leads to destruction of muscle fibers and inflammatory skin changes such as a red rash on the eyelids with scale-like plaques.
Some people with dermatomyositis develop calcinosis, which refers to hard calcium deposits under the skin. These calcium nodules typically form over joints or pressure points. They emerge within areas of damaged skin and inflamed blood vessels.
Calcinotic nodules can sometimes open and ooze chalky material. Large calcified masses may limit movement if located near joints. They are more common in juveniles with dermatomyositis.
Diagnosis
Diagnosis involves blood tests for increased muscle enzymes, electromyography to assess muscle damage, skin/muscle biopsy, and imaging tests to detect calcinosis. Identifying antibodies in the blood can help confirm dermatomyositis.
Treatment
Corticosteroids and immunosuppressive drugs are used to reduce inflammation. Physical therapy maintains muscle strength and function. Surgical removal may be done for painful, ulcerated nodules. Monitoring for signs of internal organ involvement is important.
Cystic Lymphangioma
Cystic lymphangioma is a rare malformation of the lymphatic system that can produce cysts. While not technically an autoimmune disease, it is caused by faulty development of the lymphatic vessels.
Lymphangiomas are clusters of dilated lymphatic channels that build up with fluid, forming cyst-like structures. They often appear at birth or in early childhood as painless masses on the head, neck, underarms, or groin. They may also affect internal organs.
The cysts vary in size and number, and are filled with clear or milky fluid. Infection can cause the cysts to rapidly expand. Large cysts may compress or obstruct nearby tissues, sometimes requiring surgical resection.
Diagnosis
Imaging studies like ultrasound, CT, or MRI visualize the extent of cystic lymphangioma growths. Needle aspiration of the cysts shows lymphatic fluid content. Biopsy is sometimes done to distinguish from other types of cysts or tumors.
Treatment
Many cystic lymphangiomas do not require intervention if they are small and not problematic. For larger growths, sclerotherapy drugs may shrink cysts. Laser ablation or surgical removal is done for cysts causing symptoms. Recurrence is common with incomplete resection.
Conclusion
In summary, autoimmune diseases that can result in cyst formation include Hashimoto’s thyroiditis, polycystic ovary syndrome, rheumatoid arthritis, Sjögren’s syndrome, multiple sclerosis, autoimmune pancreatitis, Peyronie’s disease, Behçet’s disease, dermatomyositis, and cystic lymphangioma. The cysts arise from areas of severe inflammation and subsequent scarring or organ damage caused by irregular immune system attacks on the body’s own tissues.
While some cysts may go unnoticed, larger ones can compress or obstruct organs and tissues, leading to a variety of symptoms. Treatment of the underlying autoimmune disease along with drainage or surgical removal is sometimes necessary for problematic cysts. Identifying the mechanism linking the autoimmune pathology with cyst development may reveal targets for future therapies.