Sarcoidosis

What are the consequences of sarcoidosis? Learn everything about the causes, symptoms, and prognosis of this disease.

Symptoms and Causes

Sarcoidosis is a systemic disease characterized by the formation of clusters of inflammatory cells, known as granulomas, which distort the structure of affected organ tissues, impairing their function. Sarcoidosis primarily affects the lungs and the lymph nodes in the chest but can also manifest in the skin, eyes, liver, or heart, as well as in the spleen, bones, joints, nervous system, or reproductive organs.

Sarcoidosis is classified based on its manifestation:

  • Acute sarcoidosis: Symptoms appear suddenly and resolve on their own.
  • Chronic sarcoidosis: The disease develops gradually, with symptoms persisting for years and potentially causing severe organ damage.

Symptoms

The symptoms of sarcoidosis depend on the affected organ:

General symptoms:

  • Fatigue
  • Weight loss
  • Swollen lymph nodes
  • Joint pain and inflammation

Pulmonary symptoms:

  • Persistent dry cough
  • Shortness of breath
  • Wheezing
  • Chest pain

Skin symptoms:

  • Erythema nodosum: Tender red nodules under the skin, usually on the shins.
  • Lupus pernio: Purplish lesions on the face, particularly the nose, cheeks, lips, and ears.
  • Skin plaques: Raised patches darker or lighter than the surrounding skin.

Ocular symptoms:

  • Redness and eye pain
  • Blurred vision
  • Dry eyes

Cardiac symptoms:

  • Palpitations
  • Dizziness or fainting
  • Arrhythmia
  • Chest pain
  • Difficulty breathing
  • Hypertension
  • Swelling

Liver and spleen involvement symptoms:

  • Upper abdominal pain
  • Fatigue
  • Tingling and itching
  • Fever
  • Weight loss

Nervous system involvement symptoms:

  • Double vision
  • Hearing loss
  • Partial facial paralysis

Excessive urine production: If the pituitary gland is affected, it may lead to a deficiency in vasopressin production, a hormone necessary for kidney function.

Hypercalcemia symptoms: Sarcoidosis can increase calcium levels in the blood and urine.

  • Loss of appetite
  • Nausea and vomiting
  • Thirst
  • Excessive urination

Causes

The exact cause of sarcoidosis is unknown. It is believed to result from an abnormal immune system response to an infectious or environmental agent, such as viruses, bacteria, toxins, chemicals, or allergens, particularly in genetically predisposed individuals. When a foreign agent enters the body, immune cells attempt to isolate it, accumulating into a roughly spherical mass known as a granuloma.

Risk Factors

Anyone can develop sarcoidosis, but the risk is higher in the following cases:

  • Age: Most common between ages 20 and 60.
  • Sex: More frequent in women.
  • Family history: Genetic predisposition plays a role.
  • Prolonged exposure to toxic substances such as pesticides or mold.
  • Medications affecting the immune system.

Complications

Although sarcoidosis often resolves spontaneously, in some cases, it can cause severe complications:

  • Prolonged lung inflammation leads to the accumulation of scar tissue in the lungs (pulmonary fibrosis), which may result in respiratory failure.
  • Pulmonary hypertension can cause thickening of the heart’s right ventricle, leading to heart failure with a poor prognosis.
  • Elevated calcium levels may result in kidney stones and reduced kidney function.
  • Eye inflammation can lead to cataracts, glaucoma, or blindness.

Prevention

Although sarcoidosis cannot be prevented, avoiding environmental triggers such as chemicals, mold, and toxins is advisable.

Which Doctor Treats Sarcoidosis?

Sarcoidosis is diagnosed and treated by a rheumatologist or pediatric rheumatologist.

Diagnosis

Diagnosing sarcoidosis can be challenging, as many diseases present similar symptoms, particularly in the early stages. If sarcoidosis is suspected based on symptom analysis and medical history, several tests can be performed to confirm the diagnosis, although no single test is definitive:

  • Blood and urine tests to measure blood cell levels, calcium levels, and angiotensin-converting enzyme, which may show abnormalities in sarcoidosis cases.
  • Biopsy: A tissue sample is taken from affected organs to confirm the presence of inflammation and granulomas.
  • Imaging tests of the chest to check for lymph node enlargement and evaluate lung and heart conditions.
  • Eye exam to assess potential eye damage.
  • Pulmonary function tests to determine lung involvement.
  • Electrocardiogram to detect heart abnormalities.
  • Lung lavage (bronchoalveolar lavage): Fluid is collected from the lungs to assess lymphocyte levels, which are typically elevated in sarcoidosis.

Treatment

The need for treatment depends on the severity of sarcoidosis. If symptoms are mild, the disease may resolve on its own. However, if symptoms are severe or threaten organ function, pharmacological treatment is required:

  • Corticosteroids: Reduce inflammation. They can be administered orally, intravenously, or topically.
  • Immunosuppressive drugs: Suppress the immune response that causes inflammation and granulomas.
  • Tumor necrosis factor-alpha inhibitors to reduce inflammation, particularly in joint involvement, by blocking the responsible protein. Used in cases that do not respond to other treatments.

Other treatments, depending on organ damage:

  • Pacemaker or implantable defibrillator
  • Lung, heart, or liver transplant
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