- HCM: the disease
- How to screen for HCM
- Treatment Options
- HCM: Genetics
- Is a Cure Available?
- After a Loss
- HCM Spectrum Disorders
- Beckwith-Wiedemann (B-W) Syndrome
- Carnitine Deficiency
- Costello's Syndrome
- Danon Disease
- Fabry's Disease
- Forbes Disease
- Friedreich's Ataxia
- Left Ventricular Non Compaction
- Muscular Dystrophy With Associated HCM
- Noonan Syndrome
- Pompe Disease
- Wolff-Parkinson-White Syndrome
Sarcoidosis is the growth of tiny collections of inflammatory cells, granulomas, in different parts of the body, most commonly the lymph nodes, lungs, skin and eyes. Its exact cause is unknown; doctors believe that sarcoidosis results from the immune system reacting to an unknown substance in the air. As the immune system reacts, immune cells collect in patterns that resemble granulomas. As the granulomas build up in an organ, the proper functioning of the organ may be effected. Some people also appear to inherit this disease genetically. It may remain undisturbed in the body until it is triggered by bacteria, viruses, dust, or chemicals. If someone in the family has had sarcoidosis, you are more likely to develop the disease. Sarcoidosis most commonly affects those between the ages of 20 and 40. Women are slightly more susceptible to develop this disease. African-Americans have a higher incidence of occurrence and is more likely to cause lung problems when compared to Caucasians.
Symptoms affect many body systems with universal symptoms being fatigue, fever swollen lymph nodes as well as weight loss. Many patients with this disease may experience lung problems including a persistent dry cough, SOB (shortness of breath), wheezing and chest pain. In those who have skin problems, symptoms may include a rash with red or reddish-purple bumps on the shins and ankles which may be warm and tender, disfiguring lesions (sores) on the nose, cheeks, and ears, areas of the skin may be darker or lighter in color, as well as nodules (growths under the skin) mainly around scars and tattoos. Sarcoidosis may also affect the eyes without causing symptoms nut when symptoms do occur, they may include blurred vision, eye pain, severe redness as well as sensitivity to light. It is important to have the eyes checked when diagnosed with sarcoidosis. Signs and symptoms of cardiac sarcoidosis includes chest pain, dyspnea (shortness of breath), syncope (fainting), fatigue, arrhythmias (irregular heartbeat), heart palpitations (rapid or fluttering heartbeat), and edema (swelling caused by excess fluid).
Sarcoidosis has many complications which has the potential to interrupt numerous body functions. Untreated pulmonary (relating to the lungs) can lead to permanent scarring, making it difficult to breath. Inflammation can affect mostly any part of the eye and cause blindness, cataracts and glaucoma. Sarcoidosis also affects how the body handles calcium which can lead to kidney failure. Granulomas in the heart can cause arrhythmias and other problems which may cause death. Few people develop central nervous system granulomas which form in the brain and spinal cord. Inflammation of the facial nerves can cause facial paralysis.
Sarcoidosis may be difficult to diagnose because it produces few symptoms in early stages which may resemble those of other disorders such as HCM. Doctors will likely start with a physical exam and look closely at skin lesions, listen to the heart and lungs, as well as check lymph nodes for swelling. There may be many diagnostic tests needed such as chest x-rays to check for lung damage, CT scans, PET or MRI scans if sarcoidosis is affecting the heart or central nervous system, blood tests to assess overall health and kidney and liver function, pulmonary (lung) function tests to measure oxygen delivery to lungs as well as eye exams and biopsies.
There is no known cure however, half of cases go away on their own. Treatment may not be needed if one does not have significant symptoms. Regular monitoring with x-rays, and exams of the eyes, skin and other organs are recommended. If symptoms are severe and organ function is threatened, medications may be prescribed. Corticosteroids are anti-inflammatory drugs that are applied directly to the affected area (cream to treat skin lesions or drops for the eyes). Immunosuppressants may also be utilized.
Figure 1: Chest x-ray of the lungs showing sarcoidosis nodules