April 3, 2017 By Dr. Stephen Anesi
Of the many causes of ocular inflammation, one of the more frequently seen causes, and frankly one many patients have never before heard of, is ocular sarcoidosis, or simply “sarcoid”. Sarcoid is a systemic autoinflammatory disease that can affect multiple parts of the body and cause varying levels of inflammation. A good many people with sarcoid actually have no idea they have the disease because it can be completely asymptomatic. However, in some cases, it may manifest in severe systemic inflammation, or lead to secondary complications, that can be debilitating or even life-threatening, requiring aggressive anti-inflammatory or immunomodulatory therapy to control. Celebrities known to have sarcoid include famed Boston Celtic Bill Russell, as well as comedian Bernie Mac, who eventually succumbed to pneumonia thought to have arisen after developing scarring from repeated bouts of lung inflammation brought on by sarcoid.
Sarcoid was first described in the late 1800s by a collection of dermatologists after a series of specific skin manifestations were recognized. The name “sarcoidosis” is Greek in origin, and was derived from the disease’s similarity to nodular skin disease called sarcoma. It is typically diagnosed between the ages of 20 to 40, sometimes later between 40 and 60, and women are affected more frequently than men. It is thought that between 10 and 40 people per 100,000 are diagnosed in the U.S. yearly. Some ethnicities have a higher risk of the disease, especially African-Americans, but also patients of Scandinavian descent. Family members of patients with sarcoid have a higher risk of having the disease. The cause is still unknown, but like many other auto-inflammatory diseases, it may be caused by an immune trigger (i.e. infection) in a genetically predisposed individual.
Diagnosis is often by accident, with many patients having incidental findings on imaging like X-rays or CT scans of their chest for other reasons. There is no specific confirmatory lab test for sarcoid, but rather the disease is diagnosed based on a combination of suggestive findings on clinical exam and diagnostic testing, with tissue biopsy being the most definitive of the latter. Systemic symptoms, when present, are often non-specific, and can include fatigue, joint pains, shortness of breath or cough, gastrointestinal disturbances, headache and other neurologic changes. Findings can include rash, enlarged glands and lymph nodes, skin nodules, enlarged liver, arrhythmias, and focal neurologic changes.
Sarcoid can affect the eye in different ways, but most commonly causes uveitis of various forms. Nodules may also be seen in the conjunctiva, and can be biopsied, leading to diagnosis. Other manifestations can affect the sclera, cornea, lacrimal gland, and other tissues in the space surrounding the eye (the orbit). Uveitis can affect any or all parts of the eye. Anterior uveitis in the front of the eye, or iritis, may cause redness, pain, light sensitivity, and blurring, and lead to secondary complications like inflammatory cataract, glaucoma, and pupillary scarring that may require surgical attention. Posterior inflammation involving the retina, optic nerve, or blood vessels can cause the above symptoms as well as floaters, flashing lights (photopsia), distortion or hazy vision, or severe and deep eye pain worsened by eye movement, and may be significant enough to cause severe vision loss that can be permanent.
Unfortunately, because sarcoid can present in many different forms, there are also many other causes of uveitis that must be ruled out before a diagnosis is made. Sarcoid traditionally is a “granulomatous” uveitis, meaning it creates large clumps or collections of inflammatory cells visible on the back of the cornea on exam – other forms of uveitis in this group include non-infectious and infectious causes (such as tuberculosis), as well as some rare forms of cancer that “masquerade” as uveitis. Clinical history, typical exam findings including retinal vasculitis or optic nerve inflammation in the setting of uveitis, and diagnostic testing using laboratory evaluation and in-office imaging studies (such as angiography) aid the ophthalmologist in making the decision of whether sarcoid is suspected. High resolution chest CT scan is extremely helpful, with the most frequent findings being enlarged lymph nodes in the mediastinum (middle of the chest cavity) or lung nodules – these may then be biopsied and analyzed, with a diagnosis being better established by the presence of granulomas (specific groupings of inflammatory cells) found via histopathologic microscopy.
Once diagnosis is made, or even if strongly suspected, a therapeutic strategy can then be devised. But in doing this, the uveitis specialist must be cognizant of whether there are extraocular findings present, and, especially if they are significant or life-threatening as when the heart or central nervous system are involved, must team up with the appropriate consulting specialist (i.e. pulmonologist, cardiologist, neurologist, etc.) to manage those features of the disease, emergently if necessary. Inactive ocular disease with asymptomatic skin or chest findings may be observed without therapy. Active inflammation is typically quieted using steroid via drops, pills, IV, or injections in or around the eye – at times, a response to this form of therapy can also aid in diagnosis. Chronic inflammation must then be addressed via use of anti-inflammatory medications, ranging from more modest drugs such as NSAIDs (ibuprofen, etc) to more potent chemotherapy or biologic medications – methotrexate and infliximab (Remicade®) are particularly effective. If extraocular disease is not present or at least benign, local therapy with long-acting intraocular steroid implants may be utilized, avoiding the potential side effects of systemic medication – this is often considered strongly in patients who have contraindications to or have failed or been intolerant of various forms of systemic medication. Surgical matters of the eye are dealt with as they arise, with the goal of therapy (as always) being prevention of these complications by successfully achieving steroid-free remission of inflammation as early as possible.
As a uveitis specialist, I am always aware of the possibility that sarcoid may be at the root of almost any of the new cases I see day to day. Decisions on how best to approach disease are made by the uveitis specialist and patient together in tandem with other providers that are called upon when needed. Especially when disease is more significant, when appropriate and risk-weighed diagnostic measures such as lymph node or lung nodule biopsy are pursued in a patient highly suspected to have sarcoid, and, in the end, the diagnosis of sarcoidosis is excluded, an important step in treating that patient has still been made. Thankfully, the disease is typically very treatable, especially when the diagnosis is caught early on, and significant vision loss or other potentially life-threatening problems can be avoided with proper and timely therapy.
This is why a higher awareness of this disease is so important. In 2008, the U.S. Congress deemed April as “National Sarcoidosis Awareness Month” in an attempt to increase support for research and education of the disease. Various support groups, charities, and other resources can be found online for more information on the subject, some of which are listed below. Of course, questions can always be directed to a uveitis specialist or primary care physician if a concern is present for sarcoid in oneself, a friend or family member, and the appropriate steps can then be taken to investigate that concern.
Ocular Inflammatory and Uveitis Foundation – www.uveitis.org
Foundation For Sarcoidosis Research – www.stopsarcoidosis.org
Bernie Mac Foundation – www.berniemacfoundation.org
World Association for Sarcoidosis and Other Granulomatous Diseases – www.wasog.org
Dr. Anesi is a Fellowship-trained uveitis specialist. He sees and treats patients with uveitis, scleritis, dry eye, cataract, glaucoma, and all forms of ocular inflammatory disease and ocular autoimmune disorders. He is accepting new patients.