A Young Woman with an Abnormal Chest Xray
A 32-year-old woman presents for evaluation of an incidentally found abnormal CXR. She has been accepted for employment as an elementary school teacher and had a CXR performed as part of a pre-employment physical.
History
She has no symptoms to report, specifically no shortness of breath, wheezing, cough, or hemoptysis. She is quite active in her life and is able to perform all needs and activities—including athletics—without symptoms. Her health in general is excellent without major diagnoses and her only medication is oral contraceptives. She has never smoked.
Physical Examination
Physical exam is totally within normal limits, including a chest exam without rales, wheezing, or consolidation. There is no adenopathy in the neck, supraclavicular, or axillary regions. The breasts are normal without masses.
Laboratory Results
CBC and metabolic panels were normal. CXR shows bilateral hilar adenopathy without other masses or infiltrates. EKG is entirely normal.
Follow-Up
One year later on periodic exam, ROS revealed a new cough which was dry, nonproductive, and without hemoptysis. In addition, she noted that lately she had increasing shortness of breath at the gym and at yoga class doing similar exercises that had not bothered her previously.
Chest exam now manifested occasional wheezes bilaterally. A repeat CXR was unchanged, but repeat PFT testing now demonstrated restrictive ventilatory function with forced vital capacity 60% of normal. Slit lamp and fundoscopy reveals mild but definite findings consistent with chronic anterior uveitis.
Which of the following is a correct statement relating to the presented case?
A. A positive transbronchial biopsy, in contrast to a positive lymph node biopsy, is an indication for prompt initiation of therapy.
B. Most patients with tissue diagnosis of sarcoidosis will require therapy at some time.
C. Mortality from sarcoidosis is usually a result of respiratory failure, cardiac, or neurologic involvement.
D. Neurologic symptoms and involvement in sarcoidosis is a chronic complication that occurs late in the course of the disease.
(Answer and discussion on next page)
Correct Answer: C
The presented case initially manifested a very typical sarcoidosis presentation— asymptomatic, incidental CXR findings, and had no significant target organ findings after extensive evaluation such that therapy was not required. This is the situation in a majority of cases of sarcoidosis. The findings of epithelioid granulomas, whether transbronchial or lymph node, is not an indication for treatment and Answer A is not correct. In fact, most patients with tissue diagnosis of sarcoid will not ever require therapy so Answer B is not correct either.
Therapeutic Options
As was the case with our patient, therapy is indicated if and when troubling symptoms (eg, bothersome cough, shortness of breath, and dyspnea on exertion due to ventilatory pulmonary dysfunction) arise. In addition, therapy is indicated when organ function is threatened, such as cases of congestive heart failure or syncope/arrhythmia in cardiac sarcoid, visual symptoms, or abnormal ophthalmologic, potentially vision-threatening findings in ocular sarcoid or seizures and other neurologic signs/symptoms in CNS sarcoidosis.1,2 These are the situations where most of sarcoidosis morbidity, and essentially all of sarcoidosis mortality, are encountered.
In fact, although the mortality rate in sarcoidosis is less than 5%, it almost always is the result of end-stage pulmonary fibrosis with respiratory failure, cardiac, or neurologic involvement,1,3 making Answer C the correct answer here. Interestingly, neurologic sarcoidosis is most often an early manifestation1 and precedes the tissue diagnosis in 74% of cases4 and is the only manifestation in about 15% of cases.2 It does not at all parallel or follow other more common clinical sarcoid syndromes, such as lung involvement, therefore Answer D is not correct.
Specific therapy continues to have corticosteroids as its mainstay. Most sarcoidosis manifestations respond very well to oral prednisone 20 mg/d to 40 mg/d for 1-3 months, followed by a slow 9-12 month taper.3 This regimen is efficacious across sarcoidosis syndromes—pulmonary, ocular, skin, and CNS.
One area requiring ancillary therapy is cardiac sarcoid where pacemakers and implanted defibrillators are often required to prevent syncope, arrhythmia, and sudden death.1 A variety of newer immunosuppressive agents, such as TNF-A inhibitors, have been reported in the literature but are far from being standard of care.
Outcome of The Case
Since deterioration of pulmonary function clinically, by testing, and with the manifestations of new symptoms of uveitis, prednisone 40 mg per day was initiated. By month 3, the shortness of breath and cough had resolved. PFT improved to normal and ophthalmologic exam showed complete resolution of uveitis. The patient is now in a slow prednisone taper and doing well. ■
References:
1.Iannuzzi MC, Rybicki BA, Teirstein AS. Sarcoidosis. N Eng J Med. 2007;357:2153-2165.
2.Scott TF, Yandora K, Valeri A, et al. Aggressive therapy for neurosarcoidosis: long-term follow-up of 48 treated patients. Arch Neurol. 2007;64:691-696.
3.Statement on sarcoidosis: joint statement of the American Thoracic Society (ATS), the European Respiratory Society (ERS) and the World Associate of Sarcoidosis and Other Granulomatous Disorders adopted by the ATS Board of Directors and by the ERS Executive Committee. Am J Respir Crit Care Med. 1999;160:736-755.
4.Iannuzzi MC, Rybicki BA. Genetics of sarcoidosis: candidate genes and genome scans. Proc Am Thorac Soc. 2007;4:108-116.
Ronald Rubin, MD is professor of medicine at Temple University School of Medicine and chief of clinical hematology in the department of medicine at Temple University Hospital, both in Philadelphia.