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Sarcoidosis is characterized by the formation of small inflammatory cell clusters, called granulomas, in various parts of the body, notably the lungs and lymph nodes. It can also affect organs like the eyes, skin, and heart.
The precise cause of sarcoidosis remains elusive, but experts speculate it stems from the immune system’s response to an unidentified trigger. This trigger could be infectious agents, chemicals, dust, or an abnormal reaction to the body’s own proteins, particularly in individuals with a genetic predisposition.
Although there’s no definitive treatment for sarcoidosis, many people experience positive outcomes with minimal or no treatment. Spontaneous resolution is possible in some cases, but the condition can persist for years, potentially causing organ damage.
Symptoms
The signs and symptoms of sarcoidosis differ depending on the organs involved. It can manifest gradually, with symptoms persisting over years, or suddenly, with symptoms disappearing rapidly. Additionally, many individuals with sarcoidosis may remain asymptomatic, leading to the discovery of the disease only through incidental findings on a chest X-ray conducted for unrelated reasons
Sarcoidosis may initiate with the following signs and symptoms:
- Fatigue
- Loss of weight
- Pain and swelling in joints, especially the ankles
- Enlarged lymph nodes
Lung symptoms
Sarcoidosis predominantly impacts the lungs and can result in lung-related issues such as:
- Prolonged dry cough
- Breathlessness
- Pain in the chest
- Wheezing
Skin symptoms
Sarcoidosis can lead to skin issues, potentially encompassing:
- Disfiguring lesions on the nose, cheeks, and ears
- Distinctive areas of darker or lighter skin
- A red or reddish-purple rash that commonly appears on the shins or ankles; the bumps may be warm and sensitive to the touch
- Nodules, or growths beneath the skin, especially near scars or tattoos
Eye symptoms
Sarcoidosis may impact the eyes without presenting any noticeable symptoms, underscoring the importance of regular eye examinations. However, when ocular signs and symptoms do arise, they may include:
- Burning, itching, or dry eyes
- Light sensitivity
- Blurred vision
- Eye pain
- Severe redness
Heart symptoms
Symptoms associated with cardiac sarcoidosis might involve:
- Dyspnea, or shortness of breath
- Chest pain
- Palpitations: a fast or fluttering heartbeat
- Arrhythmias (unusual heartbeats)
- Fluid retention resulting in swelling (edema)
- Fatigue
- Syncope
Sarcoidosis can also impact calcium metabolism, the nervous system, liver and spleen, muscles, bones and joints, kidney, lymph nodes, or any other organ in the body.
If you experience signs and symptoms of sarcoidosis, it’s important to consult your doctor.
Causes
The precise cause of sarcoidosis remains unknown to medical experts. However, some individuals may have a genetic susceptibility to the disease, which could potentially be triggered by various factors such as bacteria, viruses, dust, or chemicals. This triggers an exaggerated immune response, leading to the accumulation of immune cells in a characteristic inflammation pattern known as granulomas. As granulomas accumulate within an organ, it can disrupt the normal function of that organ.
Risk factors
Although sarcoidosis can affect anyone, certain factors may elevate your risk, including:
- Ethnicity: Individuals of African or Northern European descent have a heightened prevalence of sarcoidosis. African-Americans are more prone to involvement of multiple organs, alongside the lungs.
- Age and gender: Sarcoidosis can manifest at any age, but it frequently appears between 20 and 60 years old. Women have a slightly higher likelihood of developing the condition.
- Family background: Having a family member with sarcoidosis increases your susceptibility to the disease.
Diagnosis
Diagnosing sarcoidosis can pose a challenge as the disease often presents minimal signs and symptoms during its initial phases. Additionally, symptoms may resemble those of other medical conditions.
Your doctor will typically commence with a physical examination and a discussion of your symptoms. They will attentively assess your heart and lung function, examine your lymph nodes for swelling, and inspect any skin lesions.
To pinpoint the presence of sarcoidosis and discern which body systems may be affected, diagnostic tests are essential. Your doctor may suggest the following tests to rule out other disorders and evaluate potential sarcoidosis involvement in various organ systems:
- Eye exam to check for vision issues that may be brought on by sarcoidosis.
- Blood and urine tests to evaluate your general health as well as the health of your kidneys and liver
- Chest X-ray to examine your heart and lungs
- Computerized Tomography (CT) scan of your chest to examine your lungs.
- Pulmonary function tests assess lung volume and oxygen delivery efficiency to the blood.
- An electrocardiogram (ECG or EKG) is utilized to identify heart issues and track the heart’s condition.
- Positron Emission Tomography (PET)/ Magnetic Resonance Imaging (MRI) scan if sarcoidosis appears to be affecting your heart or central nervous system.
- Biopsy involves obtaining a small tissue sample from a suspected area of sarcoidosis involvement to examine for the presence of granulomas typically associated with the condition. Biopsies can be performed on various body parts, such as the skin for skin lesions, or from the lungs and lymph nodes if necessary.
Treatment
While there is no cure for sarcoidosis, in numerous instances, the condition resolves spontaneously. Treatment may not be necessary if you experience no symptoms or only mild ones. The choice of treatment depend on the severity and extent of the condition.
Medications
If your symptoms are severe or if organ function is at risk, you will likely receive medication-based treatment. These medications may encompass:
- Corticosteroids: These potent anti-inflammatory medications are typically the first-line treatment for sarcoidosis. In certain cases, corticosteroids may be administered directly to the affected area, such as through topical creams for skin lesions or eye drops.
- Immunosuppressive medications: Drugs like methotrexate and azathioprine reduce inflammation by suppressing the immune system.
- Hydroxychloroquine: Hydroxychloroquine may prove beneficial for treating skin lesions and elevated blood-calcium levels associated with sarcoidosis.
- Tumor Necrosis Factor-alpha (TNF-alpha) inhibitors: These medications, commonly used to alleviate inflammation in rheumatoid arthritis, can also be effective in managing sarcoidosis that has not responded to other treatments.
Certain symptoms or problems may be treated with additional drugs.
Other treatments
There may be a recommendation for additional therapy based on your symptoms or problems. For instance, you might receive pulmonary rehabilitation to lessen respiratory symptoms, physical therapy to lessen exhaustion and increase muscle strength, or an implanted cardiac pacemaker or defibrillator to treat cardiac arrhythmias.
Constant monitoring
Your symptoms and the course of your treatment may affect how frequently you see your doctor. It’s crucial to visit your doctor on a frequent basis, even if you’re not in need of treatment.
Your doctor will keep an eye on your symptoms, assess the efficacy of your therapies, and look for any potential problems. Depending on your condition, regular testing may be part of your monitoring. For instance, you might undergo routine lab and urine testing, EKGs, chest X-rays, and examinations of the skin, eyes, lungs, and any other affected organ. Lifelong follow-up care is possible.
Surgery
If your liver, heart, or lungs have been seriously affected by sarcoidosis, you may be eligible for an organ transplant.
