Abstract
Sarcoidosis is a complex granulomatous disease notorious for affecting the lungs but capable of involving multiple other organ systems. Extrapulmonary manifestations are varied and can present diagnostic challenges. One such rare occurrence is sarcoid involvement of the bone marrow. A case study published in the Journal of Community Hospital Internal Medicine Perspectives highlights a 51-year-old African American woman with an established diagnosis of cutaneous sarcoidosis who developed bicytopenia. Further medical investigations raised suspicion for systemic sarcoidosis. The diagnosis of bone marrow sarcoidosis was confirmed through a biopsy. This case emphasizes the need for vigilance in attributing cytopenias to potential marrow infiltration in sarcoidosis and discusses the pertinent course of treatment for this manifestation.
Introduction
Sarcoidosis is a multi-system inflammatory disease, characterized predominantly by the formation of non-caseating granulomas in affected organs. Pulmonary involvement is the most common; however, the condition can also manifest in the skin, eyes, lymph nodes, liver, spleen, nervous system, and in rare instances, the bone marrow.
A study published on September 30, 2020, in the Journal of Community Hospital Internal Medicine Perspectives DOI 10.1080/20009666.2019.1575688, brings to light a case of bone marrow sarcoidosis, an infrequent but notable extrapulmonary presentation of the disease. Let’s delve into this condition and explore its relevance to healthcare providers.
Keywords
1. Bone marrow sarcoidosis
2. Extrapulmonary sarcoidosis
3. Sarcoidosis treatment
4. Sarcoidosis diagnosis
5. Granulomatous disease
Case Presentation
The article profiles a patient who initially presented with cutaneous sarcoidosis. During her admission for an unrelated complaint of bicytopenia, a comprehensive evaluation including contrast-enhanced computerized tomography (CT) scans of the chest, abdomen, and pelvis revealed both a pulmonary nodule and hepatosplenomegaly. The bicytopenias raised a red flag for possible bone marrow sarcoidosis. A bone marrow biopsy subsequently confirmed the diagnosis, illustrating that sarcoidosis indeed can wade into the bone marrow, bringing with it diagnostic complexity and implications for treatment.
Discussion
The rarity of bone marrow involvement in sarcoidosis makes it a diagnostic challenge. According to the American Thoracic Society (ATS), the European Respiratory Society (ERS), and the World Association of Sarcoidosis and Other Granulomatous Disorders (WASOG), non-caseating granulomas are the hallmark of sarcoidosis (Am J Respir Crit Care Med. 1999;160(2):736–755). While granulomatous reactions in the bone marrow do occur, it is infrequent in sarcoidosis, with reports from 1.4% in various case series (Yee 2016, Clin Rheumatol. 30:334–356).
Diagnosis Challenges
The process of diagnosing sarcoidosis with bone marrow involvement starts with considering the entity in patients with known sarcoidosis who present with unexplained cytopenias. Imaging studies to evaluate other common sites of involvement such as the lungs, liver, and spleen should be considered. Ultimately, confirmation of the diagnosis requires histological evidence of non-caseating granulomas from a bone marrow biopsy (Iannuzzi et al., N Engl J Med. 2007;357:2153–2165).
Treatment Protocols
Once diagnosed, the treatment for bone marrow sarcoidosis aligns with that for other forms of sarcoidosis—predominantly involving corticosteroids. Patient monitoring includes assessing for improvement in cytopenias and monitoring potential side effects of long-term corticosteroid use (Chen & Moller, Clin Chest Med. 2008;29:365–377).
Prognosis
The prognosis for individuals with bone marrow involvement is variable and depends on the degree of organ system involvement and response to therapy. Refractory cases may warrant additional immunosuppressive therapy beyond corticosteroids.
Ethnic and Gender Predilection
Ethnic and gender predilections have been observed in sarcoidosis, with higher incidence rates reported in African Americans as opposed to Caucasian populations (Rybicki et al., Am J Epidemiol. 1997;145:234–241). Despite this, bone marrow involvement remains uncommon, and the pathophysiology behind such predilections are not fully understood but might be related to genetic predisposition (Valeyre et al., Lancet. 2014;383:1155–1167).
References
The case study and this discussion weigh upon references including articles from The American Journal of Respiratory and Critical Care Medicine, The New England Journal of Medicine, Clinical Chest Medicine, and other specialized journals to provide a comprehensive overview of sarcoidosis with particular attention to its elusive bone marrow involvement.
Conclusion
Bone marrow involvement in sarcoidosis is rare but significant and poses a unique set of diagnostic and management challenges. This particular case highlights the implications of extrapulmonary involvement in sarcoidosis and serves as a reminder for healthcare professionals to remain watchful for this potential presentation.
For providers managing patients with known sarcoidosis, a high index of suspicion should be maintained for bone marrow involvement when unexplained cytopenias are encountered. This case also underscores the importance of a multidisciplinary approach and the vital role of histological confirmation in diagnosis. Early recognition and treatment of sarcoidosis, including its rarer manifestations, could have a favorable impact on patient outcomes.
Author Contributions
Peña-Garcia J. led the clinical management, and Shaikh S., Barakoti B., Papageorgiou C., and Lacasse A. contributed to the case analysis and literature review. The manuscript was collaboratively written and reviewed by all authors.
The advent of more comprehensive studies and case reports will continue to illuminate the full clinical spectrum of sarcoidosis and aid in developing tailored therapeutic approaches for patients with this multifaceted disease.
Funding and Acknowledgment
This work was supported in part by contributions from the Geriatric Research Education and Clinical Center, Miami VA/Jackson Memorial Hospital, Miami, FL, USA, and the Department of Internal Medicine at SSM St. Mary’s Hospital – St. Louis, St. Louis, MO, USA.
Special thanks to the healthcare team involved in the patient’s care, and the patient, whose experience serves to extend our understanding of sarcoidosis and its management.
Further Reading
For those interested in further exploring bone marrow sarcoidosis and the broader implications of sarcoidosis disease manifestations, the following are recommended readings from pertinent literature, which provide insightful information on epidemiology, pathophysiology, diagnosis, and management of sarcoidosis:
1. Statement on sarcoidosis. Am J Respir Crit Care Med. 1999.
2. Epidemiology of sarcoidosis 1946–2013. Mayo Clin Proc. 2016.
3. Sarcoidosis: rheumatology perspective. Best Pract Res Clin Rheumatol. 2016.
4. Management of extrapulmonary sarcoidosis: challenges and solutions. Ther Clin Risk Manag. 2016.
5. The organ-specific extrapulmonary presentation of sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis. 2004.
This article is an educational piece based on a case report from the Journal of Community Hospital Internal Medicine Perspectives and should not be used as a stand-alone resource for clinical decisions regarding sarcoidosis. Always consult professional healthcare providers for medical advice.