Overview

Sarcoidosis is a rare inflammatory disease characterized by the formation of tiny clumps of inflammatory cells known as granulomas in various organs of the body. These granulomas most commonly affect the lungs and lymph nodes but can also involve the skin, eyes, liver, heart, and other organs. The exact cause of sarcoidosis remains unknown, and the condition can vary from mild cases that resolve without treatment to chronic forms that require ongoing medical care. Sarcoidosis is most frequently diagnosed in adults between the ages of 20 and 40 and affects both men and women.

Causes

The exact cause of sarcoidosis is not fully understood, but it is believed to result from an abnormal immune response. Several factors may contribute to the development of sarcoidosis, including:

• Genetic predisposition: People with a family history of sarcoidosis may have a higher risk of developing the condition.
• Environmental exposure: Contact with certain dust, chemicals, or infectious agents might trigger the immune system in genetically susceptible individuals.
• Infections: Some researchers suggest that bacteria or viruses may initiate the granulomatous response, though no specific infectious cause has been confirmed.
• Autoimmune response: The immune system may mistakenly attack the body’s own tissues, leading to inflammation and granuloma formation.

Symptoms

The symptoms of sarcoidosis vary depending on which organs are involved. Many people with sarcoidosis may not experience noticeable symptoms and discover the condition incidentally through routine medical examinations. Common symptoms include:

• General symptoms: Fatigue, fever, weight loss, and night sweats.
• Lung symptoms: Persistent dry cough, chest pain, and shortness of breath.
• Skin symptoms: Red or purplish bumps, especially on the shins (erythema nodosum), or skin lesions.
• Eye symptoms: Eye redness, blurred vision, pain, or sensitivity to light (uveitis).
• Lymph node enlargement: Swollen lymph nodes, particularly in the neck, armpits, or chest.
• Joint symptoms: Joint pain or swelling, particularly in the ankles.
• Heart involvement: In rare cases, arrhythmias, chest pain, or heart failure symptoms.

Diagnosis

Diagnosing sarcoidosis involves ruling out other conditions and confirming the presence of granulomas. The diagnostic process typically includes:

• Medical history and physical examination: Evaluation of symptoms, family history, and physical signs.
• Chest X-ray: Often used to detect lung involvement, showing enlarged lymph nodes or lung changes.
• CT scan: Provides more detailed imaging of the lungs and affected organs.
• Biopsy: Tissue sample taken from affected organs (like skin, lymph nodes, or lungs) to identify granulomas under a microscope.
• Blood tests: Elevated levels of angiotensin-converting enzyme (ACE), calcium, or inflammatory markers may support diagnosis.
• Pulmonary function tests: Assess lung capacity and breathing ability when lungs are involved.
• Eye exams: To check for uveitis or other eye involvement.

Treatment

Treatment for sarcoidosis depends on the severity of symptoms and the organs affected. Many mild cases improve without treatment, while others require medical therapy:

• Observation: Mild cases without significant symptoms may only require monitoring through regular check-ups.
• Corticosteroids: Oral prednisone is commonly used to reduce inflammation in more serious cases.
• Immunosuppressive drugs: Medications such as methotrexate, azathioprine, or hydroxychloroquine are used in steroid-resistant cases or when steroid side effects are a concern.
• Targeted therapy: In refractory cases, biological drugs like TNF-alpha inhibitors may be considered.
• Symptomatic treatment: Inhalers for breathing difficulties, eye drops for eye involvement, or skin creams for rashes may be prescribed.

Prognosis

The prognosis for sarcoidosis varies from person to person. Many individuals experience spontaneous remission, especially in cases with skin or lymph node involvement. Approximately half of sarcoidosis cases resolve within 2 to 5 years. Others may develop chronic or progressive disease, particularly those with severe lung, heart, or neurological involvement. With proper treatment and monitoring, most people with sarcoidosis can manage their symptoms effectively and maintain a good quality of life. Early diagnosis and medical care are essential in preventing complications and improving long-term outcomes.