Rare Classroom: Sarcoidosis

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Sarcoidosis

What is Sarcoidosis?

  • Sarcoidosis is a multisystem inflammatory disease in which granulomas (lumps of cells) form in various organs of the body
  • In those with sarcoidosis, when inflammation occurs and doesn’t go away, some of the immune system cells cluster to form granulomas​
  • Granulomas affect the function of the organs that they form in and give rise to symptoms
    • Granulomas are the body’s attempt to wall off or isolate organisms and other foreign particles that are difficult for the immune system to eradicate or dispose of
    • The granulomas can progress to irreversible fibrosis
    • For some, the granulomas can go away on their own in 2 to 3 years without the patient knowing or doing anything about them
  • Can affect any organ in the body​
  • Primarily affects the lung, eyes and skin​
  • Lungs involved in up to 95% of patients​
  • Sarcoidosis is “characterized by a seemingly exaggerated immune response against a difficult–to-discern antigen”
  • Patients with sarcoidosis appear to be at significantly increased risk for cancer, in particular lung cancer, malignant lymphomas, and cancer in other organs known to be affected in sarcoidosis

How Do You Get It?

  • Exact cause unknown​
  • Triggered by an abnormal immune response​
  • Some researches believe that fungi, viruses, or bacteria and/or environmental causes are triggers of the abnormal immune response​
  • It is believed that sarcoidosis arises in those who are genetically predisposed to the disease​
  • Developing sarcoidosis involves an interplay between various exposures and host response due to genetic predispositions​
  • In the aftermath of 9/11, those working on the World Trade Center debris pile had an elevated risk of post 9/11 sarcoidosis​
  • Risk factors:
    • Age and Sex – Ages 20-40. More likely in females​
    • Race – African-Americans​
    • Family History – More likely in those with family history​

What Are The Symptoms?

  • Symptoms vary greatly between individuals and in the same person over time​
  • Many can be asymptomatic​
  • What organs are affected?
    • Eyes (25 percent of cases)
      • Burning, itching, tearing, pain, red eye, sensitivity to light (photophobia), dryness, seeing black spots (called floaters) and blurred vision
    • Lungs and lymph nodes (90-95 percent of cases)
      • Cough, shortness of breath, wheezing, chest pain, tightness or discomfort 
      • Lymph nodes may be enlarged, swollen – can be visible  on chest x-ray
    • Skin (25 percent of cases)
      • Erythema nodosum, lupus pernio, mall brownish and painless skin patches
    • Heart
      • Shortness of breath, swelling in legs, palpitations
    • Brain and nervous system
      • Headaches, visual problems, weakness or numbness of an arm or leg and facial palsy
    • Bones, joints, and muscles
      • A mass in the muscle, muscle weakness and arthritis in the joints of the ankles, knees, elbows, wrists, hands and feet
    • Salivary glands
      • Dryness in mouth, swollen cheeks
  • 35-50% of cases have respiratory symptoms
  • Most common initial symptoms:​
    • Shortness of breath​
    • Cough​
    • Reddish bumps or patches on the skin or under the skin​
    • Fever, weight loss, fatigue, night sweats, general feeling of ill health​
    • Enlarged lymph glands​
  • Other symptoms include fever, fatigue, weight loss, night sweats, malaise
  • A subtype of acute sarcoidosis is called Lofgren’s syndrome
    • Fever​
    • Enlarged lymph nodes​
    • Arthritis (typically in the ankles)​
    • Erythema nodosum – rash of red or reddish-purple bumps on ankles and shins​
    • Usually associated with a good prognosis – tends to clear up on it’s own in 1-2 years​
  • For 10% to 30%, sarcoidosis is a chronic condition, with symptom progression despite treatment that has continued for more than two years​
  • Sarcoidosis can lead to permanent lung damage, usually in the form of pulmonary fibrosis, in up to 20% patients​
    • Pulmonary fibrosis is a condition that causes lung scarring and stiffness. This keeps the body from getting enough oxygen. Increased scarring makes breathing difficult and affects the heart.​
    • Shortness of breath, cough and hypoxemia (low blood oxygen level) are typical manifestations of pulmonary fibrosis​
  • When the granulomas or fibrosis seriously affect the function of a vital organ–such as the lungs, heart, nervous system, liver, or kidneys–sarcoidosis can be fatal​
  • The leading cause of sarcoidosis-related death in the United States is irreversible pulmonary fibrosis​

How Is It Treated?

  • When sarcoidosis seriously affects the ability of the lungs to function normally, patients may require supplemental oxygen (supplied in a small portable oxygen tank and administered through plastic tubing clipped to the nose) to help them breathe
  • Many do not need treatment, as the disease heals itself​
  • For some patients intense treatment is required​
  • Drug treatments are used to:​
    • Relieve symptoms​
    • Reduce the inflammation of the affected tissues​
    • Reduce the impact of granuloma development​
    • Prevent the development of lung fibrosis and other irreversible organ damage​
  • About 15% of patients with sarcoidosis require treatment for persistent pulmonary disease​
  • About 10% of patients require treatment for effects of sarcoidosis outside of the lungs​
  • Greater than 75% require only symptomatic treatment with NSAID’s​
  • Most common treatment is corticosteroids – typically oral prednisone​
    • Corticosteroids are used to reduce inflammation​
    • Oral prednisone is the most commonly used for sarcoidosis​
    • A risk-benefit analysis is an important first step before beginning corticosteroid therapy ​
    • Typically used in patients who have moderately severe disease​
    • Cough and shortness of breath are two symptoms that typically improve with corticosteroids​
    • A high dose is first prescribed and then tapered to the lowest effective dose​
    • Studies show that patients can expect a 10% improvement in symptoms up to 5 years after completion of corticosteroid therapy​
    • Corticosteroids prevent granuloma formation in most patients​
    • Common side effects of corticosteroids include: ​
      • Excessive weight gain, insomnia, acne, diabetes in the susceptible, high blood pressure, glaucoma, cataracts, osteoporosis, depression and emotional irritability, skin bruising, increased risk of infection

Alternatives to corticosteroids include:

  • Methotrexate (Rheumatrex, Trexall), leflunomide (Avara) or azathioprine (Imuran, Azasan)
    • Used in place of or in addition to corticosteroids​
    • Methotrexate can be taken as pills or an injection under the skin, once per week​
  • Hydroxychloroquine (Planquenil, Quinoprex) and) chloroquine (Aralen)
    • Used to treat sarcoidosis of the skin, lungs, and nervous system​
    • Used to treat the hypercalcemia seen with sarcoidosis​
  • Cyclophosphamide (Cytoxan, Neosar) or chlorambucil (Leukeran)
    • Usually used for disease that has reached the severe stage and after other therapies have failed​
    • Cyclophosphamide is associated with many severe side effects​
  • Pentoxifylline and thalidomide (Thalomid)
    • Beneficial in treatment-resistant lupus pernio (skin lesions)​
  • Infliximab  (Remicade), adalimumab (Humira), Certolizumab pegol (Cimzia), or etanercept (Embrel)
    • Biologics​
    • Intravenous injection every 4-8 weeks or under the skin (subcutaneous injection) every 1-2 weeks​
    • Usually used after other options are not successful or not tolerated​
  • NSAIDs
    • May help reduce acute inflammation and relieve arthritis and fever​
  • Topical corticosteroids
    • For mild local symptoms of sarcoidosis​
  • Inhaled steroids
    • For symptom relief​
    • (Advair, Aerobid, Areospan, Alvesco, Asmanex, Flovent, Pulmicort, Qvar, Symbicort)​
  • Organ transplantation
    • Used rarely for severe, refractory disease ​
  • Adrenocorticotropic (HP Acthar® Gel)  
  • Rituximab (Rituxian)
    • B-cell targeted therapy​
    • A biologic​
  • Most patients have a spontaneous remission from sarcoidosis and fully recover​
  • Approximately half of the cases resolve or can be cured within 12–36 months and most within 5 years​
  • Some cases persist several decades​
  • Prognosis is generally better in:​
    • Females​
    • Patients with less severe pulmonary staging at time of diagnosis​
    • Patients without anergy​
    • Patients with normal globulin levels​

Where Can I Learn More???

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