Sarcodosis- Taking Your Breath Away
Velva Boles, MD
Alan is a proud African American man -the bread winner in his family. He grew up knowing the true meaning of “being the first born son” and a “good big brother”; he shouldered responsibility well. Alan never turned away from a challenge and he had been rewarded with a successful career, a loving wife and family. But recently, he has had trouble breathing -just can’t seem to catch his breath. He has to pause often and consciously take slow deep breaths that don’t quite quench his hunger for oxygen. He yawns a lot and has an annoying dry cough. Alan is experiencing feelings of constrictive breathing that come and go lasting a few days each week. During these times, he is more tired than usual and sleep does not totally rejuvenate him; he drags – no energy, his eyes burns because they are so dry and his vision is sometimes blurry. A rash appeared on his legs two weeks ago; it doesn’t itch or bother him, but his wife is concerned about it. Alan is not one to complain and his scheduled annual physical is a few months away, so he’s content to wait until then to talk to a doctor.
Alan sat nervously in his doctor’s office. He had gotten the blood work, chest x-ray and urinalysis done two days before his clinic visit and now he waited to get the results. His doctor walked in without the usual smile and joking manner. Alan felt the chill of cold sweat on his forehead. The doctor looked at Alan and cleared his throat then said, “Alan it appears that you have something going on in your lungs and you have enlarged lymph nodes in your chest.”
“Are you saying that I have cancer?” Alan asked.
“Let’s not jump to conclusions”, the doctor answered. There are other things that it could be – like sarcoidosis. It could be sarcoidosis. The chest x-ray pattern strongly suggests sarcoidosis.”
” What’s that?” Alan asked in abject fear. “I have been short winded off and on for about a year; now it comes more regularly and lasts longer. I think that it is getting worse. What do you suggest that I do? Alan asked tentatively. “I don’t have comprehensive insurance”.
The doctor cleared his throat and said, “The good news is that 70% of patients who have sarcoidosis don’t require therapy. Often, it goes away on its own. But when therapy is needed steroids can usually keep the symptoms under control. “Let’s start steroids, Predisolone; it can slow or reverse the course of the disease and it is not very expensive.”
“Can I give this to my wife and family? Is this contagious? Do I need to take off work? How did I get this? I got to call my wife. Will you talk to her and tell her what I got?”
“Alan, sarcodosis is not contagious; not like the flu or a cold”, answered the doctor. “Please call your wife, I will be glad to talk to her. I am going to have my nurse take you to the small conference room where you can call your wife. I will be there in a few minutes. The nurse will also show you a video and give you some literature to read.”
Working hypotheses for the cause(s) of sarcodosis begin with a belief that sufferers have an alteration in immune response after exposure to an environmental, occupational, or infectious agent. Some people appear to have a genetic predisposition for developing the disease, which may be triggered by exposure to bacteria, viruses, dust or chemicals which cause inflammation that does not go away instead immune system cells cluster to form lumps, called “granulomas”, throughout various organs in the body. Several infectious agents appear to be significantly associated with sarcoidosis, but none of the known associations is specific enough to suggest a direct causative role. Propionibacterium acnes has been implicated. It is a bacterium found in bronchoalveolar lavage (lung washings) in 70% of patients with symptomatic disease. Sarcoidosis usually occurs in people between the ages of 20 and 40. Black Americans have a higher incidence and more severe assault from sarcoidosis than other Americans and are more likely to have lung and skin involvement. In the United States, several studies suggest that the presentation in people of African origin is more severe and disseminated than for Caucasians, who are more likely to have asymptomatic disease.
Sarcoidosis is a systemic disease that can affect any organ. Signs and symptoms of sarcoidosis tend to vary, depending on which organs are affected and how long the disease has been present. Granulomas appear most often in the lungs and within lymph nodes. Sarcoidosis granulomas lead to organ damage in about one-third of the people diagnosed with the disease. Rarely, sarcoidosis can be fatal. Death usually is the result of problems with the lungs, heart, or brain. About 50% of people who have sarcodosis show symptoms within 3 years of diagnosis and about 10% develop serious disabilities.
Symptoms and signs involving the skin include rashes and small bumpy plaques, maculo-papular eruptions, and subcutaneous nodules. Disfiguring skin sores may occur on the nose, cheeks and ears and areas of skin may get darker or lighter in color. Growths, just under the skin, develop around scars and tattoos. A rash of reddish-purple bumps may appear on the shins and ankles and be warm and tender to the touch. The scalp may present with diffuse patches of hair loss (baldness).
Diseased lung is by far the most common diagnostic site for sarcoidosis which causes permanent progressive fibrosis of the lung tissue. Pulmonary manifestations of sarcoidosis are two-fold: the amount of air drawn into the lungs (vital capacity) is limited and lung changes due to scarring and enlarged lymph nodes in the chest impede the amount of air that can be easily pushed out (exhaled). Within the lung, the inflammatory process involves the alveoli, small bronchi, and small blood vessels. Lymph nodes in the chest cavity are enlarged in 75 to 90 percent of all sarcoidosis patients; their presence is obstructive to lung movement. Pulmonary Hypertension is the greatest threat with sarcoid lung. It causes abnormally high blood pressure in the arteries of the lungs which makes the right side of the heart work harder to force the blood through these vessels; over time, the right side of the heart becomes enlarged and less efficient in pumping blood and ultimately results in heart failure.
Granulomas cause morbidity in other major organs: Myocardial sarcoidosis results in sudden cardiac death where granulomas within the heart cause dysfunctional (fatal) heart rhythms. In men, sarcoidosis can affect the testes and cause infertility. Sarcoidosis can affect how the body handles calcium giving rise to kidney failure. Neurologic (brain and spinal cord) involvement is observed as bilateral facial nerve palsy, optic nerve dysfunction causing blurred vision or blindness, swallowing dysfunction, and hearing abnormalities. Appearance can be adversely affected by “mump-like” bilateral parotid salivary glandular obstruction and enlargement.
Sarcoidosis and cancer can mimic one another, making the distinction difficult. Diagnosis of sarcoidosis is often a matter of exclusion. Common symptoms are vague, such as fatigue unchanged by sleep, lack of energy, weight loss, aches and pains, arthritis, dry eyes, swelling of the knees, blurry vision, shortness of breath, a dry hacking cough and skin lesions. Differential diagnoses include metastatic cancer, lymphoma, septic emboli (blood clots), rheumatoid nodules, mycobacterial infections and fungal disorders. Cases presenting with pulmonary symptoms require evaluations via chest Xray, CT (computer topographic) scan of chest, bronchoscopy with lung biopsy, lymph nodes biopsy and tuberculosis bacilli stain of tissue to be able to make a definitive diagnosis of sarcoidosis.
Perhaps Alan will be one of the lucky ones; more than half of the people who have symptomatic sarcoidosis have spontaneous remission (disease becomes in-active, but it can return) within three years of diagnosis. There’s no cure for sarcoidosis, but treatments help manage the symptoms. Prednisone and other corticosteroids are the first-line treatment for sarcoidosis; however, this treatment has side-effects. Oral corticosteroids can cause weight gain, mood swings, insomnia and weakened bones. There are other medication used to treat sarcodosis life-threatening symptoms and they have correspondingly severe side effects: Anti-rejection drugs (used in organ transplant maintenance) reduce inflammation by suppressing the immune system; thereby reducing granulomas formation in lungs, heart and brain, but these drugs carry HIGH risks for bone marrow suppression. Anti-malarial drugs are helpful in controlling sarcodosis-associated skin disease, nervous system pathology and elevated blood-calcium levels (that damage the kidneys), but have the potential to harm the eyes (cause cataracts and blindness). Anti-cancer drugs (TNF-alpha inhibitors) are commonly used to treat the inflammation associated with sarcoid arthritis; potential side effects include congestive heart failure, blood disorders and lymphoma.
For more information about sarcodosis go to the American Lung Association Website at: http://www.lung.org/lung-disease/sarcoidosis/understanding-sarcoidosis.html and sarcodosis help group websites: http://www.jsof.org/ and http://www.sarcoidlife.org/.