Bay Biosciences provides high-quality biopsy tissue samples, formalin fixed paraffin embedded (FFPE) tissue blocks, with matched fresh frozen sera (serum), plasma, and peripheral blood mononuclear cells (PBMC) bio-fluids, from patients diagnosed with sarcoidosis.
The sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluid specimens are processed from patients peripheral whole-blood using customized collection and processing protocols from sarcoidosis patients.
Fresh frozen tissue and matched biofluid samples were, collected from unique patients diagnosed with sarcoidosis.
Bio-samples are provided to a valued pharmaceutical customer for research, diagnostics, discovery, and drug development.
Sarcoidosis Overview
Sarcoidosis is a rare inflammatory disease that affects multiple organs in the body, but most commonly the lungs, skin and lymph glands. This condition causes small patches of red and swollen tissue, called granulomas, to develop in the organs of the body.
Granulomas are formed as a normal part of the immune response, but they typically break up after foreign objects or irritants have been expelled. Sarcoidosis involves the development of granulomas that form or linger when they are no longer needed.
Scientists are not sure why or how sarcoidosis occurs. However, it may be the result of an excessive immune response to an irritant or allergens, such as:
- Bacteria
- Chemicals
- Dust
- viruses
- Pollution
- Viruses
There is some evidence to suggest certain individuals may be more genetically predisposed to develop the condition.
The bulk of sarcoidosis cases involve or begin in the lungs. The swollen lymph and glands, especially those surrounding the lungs, are also impacted. However, sarcoidosis can affect any organ in the body.
Though less common, cases involving organs, such as the heart, brain, and kidneys, are often far more severe. Also, they can be difficult to treat and may cause serious health complications.
The areas of the body commonly affected by sarcoidosis include the following:
- Brain
- Eyes
- Heart
- Liver
- Lymph nodes
- Skin
- Spleen
Doctors don’t know the exact cause of sarcoidosis. Some people appear to have a genetic predisposition to develop the disease, which may be triggered by bacteria, viruses, dust or chemicals.
In many patients with sarcoidosis, the disease appears briefly and then disappears without the person even knowing they have the disease.
Twenty to thirty percent of patients have some permanent lung damage. For a small number of patients, sarcoidosis is a chronic condition. In some patients, the disease may result in the deterioration of the affected organ.
Rarely, sarcoidosis can be fatal. Death usually is the result of complications with the brain, heart or the lungs.
Signs and Symptoms of Sarcoidosis
Some of the patients with sarcoidosis disease don’t develop any symptoms. However, general symptoms may include the following:
- Abdominal Swelling
- Chest pain around breastbone
- Persistent dry Cough
- Depression
- Dryness in the mouth
- Excessive sweating
- Exhaustion
- Fatigue
- Fever
- Joint pain
- Nosebleeds
- Shortness of breath
- Tachycardia, (abnormal heartbeat)
- Unexplained Weight Loss
- Weakness
- Wheezing
In addition to the above symptoms rashes can also develop on the lower extremities, such as ankles and shins, or on the upper body.
Symptoms vary depending on the part of your body that’s affected by the disease. Sarcoidosis can occur in any organ, but it most commonly affects the lungs. More specific signs may indicate which organ is involved. Symptoms associated with sarcoidosis in specific organs are detailed as follows:
Lungs
Symptoms of sarcoidosis in the lungs include:
- Chronic dry Cough
- Shallow breath or dyspnea
- Shortness of breath or trouble catching the breath
- Unidentifiable chest pain, often radiating out
- Wheezing
Lymph Nodes
Symptoms of sarcoidosis in the lymphatic system include the following:
- Dysphagia (difficulty swallowing)
- General feeling of exhaustion or discomfort
- Pain
- Redness
- Swelling or edema, excess buildup of fluid
- Sore throat
Heart
Symptoms of sarcoidosis in the heart include the following:
- Arrhythmias or irregular heartbeat
- Dyspnea or Shortness of breath and/or difficulty catching breath
- Edema or swelling caused by the build up of fluid
- Pain, often radiating throughout the chest
- Feeling of fainting
- Fatigue and unexplained exhaustion
- Palpitations with rapid, fluttering heart beat
Eyes
Cases of sarcoidosis that impact the eyes do not often cause symptoms. This means many go undiagnosed until permanent damage has been done.
When present, the symptoms of sarcoidosis of the eye include the following:
- Blurred or cloudy vision
- Pain or soreness
- Redness
- Sensitivity to light
Nervous System
Symptoms of sarcoidosis of the nervous system include the following:
- Damage to small nerves
- Facial paralysis or loss of muscle control
- Headache
- Inflammation in the brain, leading to seizures and other changes
- Meningitis
- Stiff neck
Skin
Symptoms of sarcoidosis of the skin include the following:
- Erythema nodosum, which is a raised red rash on the shins and ankles, often warm and tender to touch
- Lesions or sores, leading to permanent skin damage and disfigurement, often on the cheeks, nose, and ears
- Nodules or growths under the skin, especially around scar tissue
- Skin discoloration, where some regions become lighter or darker than normal
Joints, Connective Tissues, Bones, and Muscles
Symptoms include the following:
- Arthritis
- Loss of muscle control, tone, or function
- Generalized joint pain
- Loss of flexibility, ease, or range of motion
- Generalized weakness and exhaustion
Causes of Sarcoidosis
Exact cause of developing sarcoidosis is unknown. However, experts believe bacteria, viruses, or chemicals may trigger the disease. Gender, race, and genetics can increase the risk of developing the condition. This means a person is more likely to develop sarcoidosis if someone in her or his family has:
- Sarcoidosis is more common in women than in men.
- Patients of African-American descent are more likely to develop the condition.
- People with a family history of sarcoidosis have a significantly higher risk of getting the disease.
Sarcoidosis rarely occurs in children. Symptoms usually appear in patients between the ages of 20 and 40.
Sarcoidosis may develop as certain factors triggers an overreaction of the immune system, and immune cells begin to collect in a pattern of inflammation called granulomas. As granulomas build up in an organ, the function of that organ can be affected.
Stages of Sarcoidosis
It is estimated that at least 90% of patients with sarcoidosis experience lung involvement. In sarcoidosis, staging is a way to indicate the location of granulomas in the lungs, the lymph nodes, or both, and the nature of the disease.
If anything, the stages are an easy way for doctors to categorize their sarcoidosis patients, and should not be seen as an indication of severity.
Stage one sarcoidosis indicates granulomas in the lymph nodes. Stage two indicates lymph node involvement in addition to granulomas in the lungs. At first, this might appear to be a progressive diagnosis compared to stage one.
However, stage three sarcoidosis indicates granulomas present in the lungs, but not in the lymph nodes. This demonstrates how the stages are not a progression. A patient may even go between these stages, they may have stage two sarcoidosis, and then with treatment or time become stage one, or three, or go into remission altogether.
Stage four sarcoidosis is a little bit different than the other three. Stage four indicates scarring in the lungs, pulmonary fibrosis, which is irreversible. Because of this, stage four is the most severe presentation of sarcoidosis. This also contributes to the misconception that the stages of sarcoidosis follow a progression.
The stage of sarcoidosis does not indicate a level of severity, in fact, each “stage” can be at a different level of severity. A patient may have granulomas in their lungs but nowhere else (stage three) and be completely asymptomatic.
This type of sarcoidosis is often caught by accident on an x-ray for another injury or illness, and may not even require treatment. In another case someone might have granulomas only present in their lymph nodes (stage one), but experience severe pain and swelling, or other complications.
All stages of pulmonary sarcoidosis can be severe. Any stage could cause serious symptoms and debilitating fatigue. They can require treatments that lead to nasty side effects or other complications.
Diagnosis of Sarcoidosis
It can be difficult to diagnose sarcoidosis. Symptoms can be similar to those of other diseases, such as arthritis or cancer. Your doctor will run a variety of tests to make a diagnosis.
Your doctor will first perform a physical examination to:
- Check for skin bumps or a rash
- Look for swollen lymph nodes
- Listen to your heart and lungs
- Investigate for an enlarged liver (hepatomegaly) or spleen
Almost 90 percent of sarcoidosis cases are not significant enough for doctors to be able to diagnose them. They may also be undetectable by radiographic devices.
Diagnoses are often made during examinations or testing for other health conditions, for example, chest X-rays for:
- Pneumonia
- Injury
- Lung cancer
If sarcoidosis is suspected, a doctor will begin by examining the impacted area and reviewing a person’s medical history.
Additional tests used to diagnose sarcoidosis include:
- Biopsy of organ tissues
- Blood tests to assess organ function or change, in particular, measuring kidney enzymes and markers
- Computerized tomography (CT) scan
- Chest X-ray to assess lymph node involvement and lung damage
- Eye examinations
- Liver function tests (LFT) to assess lung volume or blood flow and associated oxygen delivery
- Positron emission tomography (PET) scan
The doctor may also perform blood tests to check the kidney and liver function.
Treatment of Sarcoidosis
There is no cure for sarcoidosis, but the disease may get better on its own over time. Many people with sarcoidosis have mild symptoms and do not require any treatment.
Treatment is usually given to reduce symptoms and to maintain the proper working order of the affected organs.
In approximately half of all sarcoidosis cases, symptoms resolve or go away on their own. More severe or persistent symptoms benefit from medical treatment. Treatments generally fall into two categories drug treatment and maintenance of good health practices.
Drug Treatment
Some of the medications and therapeutic options available include:
- Anti-inflammatory, topical or oral corticosteroids
- Hydroxychloroquine (Plaquenil)
- Immunosuppressants
- Surgery
- Tumor necrosis factor-alpha (TNF-alpha)
After receiving the test results, a specialist will help you decide on a treatment plan. The goal of treatment is remission, meaning that the condition is no longer causing any complications. Many sarcoidosis patients require no treatment at all but should be followed by your doctor regardless.
If you do need treatment, doctors often use medications that turn down your immune system’s activity. Several different medications can be prescribed to treat sarcoidosis.
- Corticosteroids, or prednisone, which turn down the immune system’s activity to reduce inflammation. Prednisone can have some serious side effects if taken long term, so you may be treated for a while and then be tapered off as your symptoms improve.
- Methotrexate, a medication that is used with, or sometimes instead of, prednisone to suppress the immune system. It is taken once a week, orally or as a shot.
- Antimalarials, which are usually used to treat malaria, may help with sarcoidosis of the skin or joints.
- TNF inhibitors, which are also used to treat inflammation in rheumatoid arthritis, may be given intravenously or injected under your skin for sarcoidosis.
- Corticotropin, a drug that helps your body produce its natural steroid hormones and can be injected under your skin.
Drug treatments are used to relieve symptoms and reduce the inflammation of the affected tissues. The oral corticosteroid prednisone is the most commonly used treatment.
Fatigue and persistent cough are usually improved with steroid treatment. If steroids are prescribed you should see your doctor at regular intervals so that they can monitor the disease and the side effects of treatment. Other treatment options include hydroxychloroquine, methotrexate and other drugs.
Maintenance of Good Health Practices
Good health practices include the following:
- Exercising regularly and managing your weight
- Drinking enough fluids every day
- Getting regular check-ups by your doctor
- Eating a well-balanced diet with a variety of fresh fruits and vegetables
- Getting six to eight hours of sleep each night
- Quitting smoking
Complications of Sarcoidosis
Majority of the patients who are diagnosed with sarcoidosis do not experience complications. However, for some patients sarcoidosis can become a chronic, or long-term, disease.
Complications of sarcoidosis may include the following:
- Abnormal heartbeat
- Facial paralysis
- Cataracts
- Glaucoma
- Infertility
- Kidney failure
- lung infection
In rare cases, sarcoidosis causes severe heart and lung damage which may require the patient to go on immunosuppressive medications.
It’s important to consult with your healthcare provider if you have any of the following conditions:
- Breathing difficulties (shortness of breath)
- Changes in vision or loss of eyesight (eye complications)
- Eye pain
- Facial numbness
- Heart palpitations
- Sensitivity to light
These can be signs of dangerous complications. Your doctor may recommend that you see an optometrist or ophthalmologist because this disease can affect your eyes without causing immediate symptoms.
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