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Short Communication - Hematology and Blood Disorders (2023) Volume 6, Issue 2
Erdheim-Chester disease: Xanthogranulomatous infiltration of foamy histiocytes surrounded by fibrosis
Fahad Khan*
Department of Biology,King Edward Medical University, Pakistan
- *Corresponding Author:
- Fahad Khan
Department of Biology
King Edward Medical University
Pakistan
E-mail:Fahadk456@gmail.com
Received:31-May-2023, Manuscript No. AAHBD-23-97111; Editor assigned:05-Jun-2023, PreQC No. AAHBD-23-97111(PQ); Reviewed:19-Jun-2023, QC No. AAHBD-23-97111; Revised:23-Jun-2023, Manuscript No. AAHBD-23-97111(R); Published:30-Jun-2023, DOI: 10.35841/aahbd-6.2.145
Citation: Khan F. Erdheim-chester disease: Xanthogranulomatous infiltration of foamy histiocytes surrounded by fibrosis. Hematol Blood Disord. 2023;6(2):145
Introduction
Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytosis characterized by the infiltration of various tissues by histiocytes, which are cells that play a role in the immune system's response to infection and inflammation. ECD was first described in 1930 by two pathologists, Jakob Erdheim and William Chester, who identified a group of patients with a distinct set of clinical and pathological features. Despite being a rare condition, ECD is an important area of research as it can have a significant impact on the quality of life of affected individuals. ECD primarily affects adults, with a median age of diagnosis around 53 years. It has a slight male predominance and is more commonly seen in Caucasians. The clinical presentation of ECD is variable and depends on the organs affected by the disease. The most common presentation is bone pain, which is often the first symptom of the disease. Bone involvement is seen in almost all cases of ECD and can cause deformities, fractures, and osteoporosis. Other common symptoms include fatigue, weight loss, fever, and neurological symptoms such as headaches, vision changes, and cognitive impairment. The involvement of other organs such as the heart, lungs, kidneys, and skin can also occur and lead to additional symptoms. [1].
The diagnosis of ECD can be challenging due to the rarity of the disease and the variable presentation of symptoms. A thorough medical history and physical examination are essential, followed by imaging studies such as X-rays, CT scans, and MRI. Biopsy of involved tissues is necessary for a definitive diagnosis, and immunohistochemical staining can differentiate ECD from other histiocytic disorders. The treatment of ECD is challenging, and there is no standard treatment regimen due to the rarity of the disease and lack of controlled trials. Treatment decisions are individualized based on the patient's symptoms, disease severity, and organ involvement. Interferon alpha, a type of immunotherapy, has shown some benefit in treating ECD, particularly in cases with central nervous system involvement. Other treatments that have been used include corticosteroids, chemotherapy, and radiation therapy. Novel therapies such as BRAF inhibitors and MEK inhibitors have also shown promise in treating ECD patients with BRAF V600E mutations [2].
3].
The pathogenesis of ECD remains poorly understood, although recent studies have identified mutations in the BRAF V600E gene in up to 60% of cases. This mutation is found in a variety of other tumors, including melanoma, and has led to the development of targeted therapies such as BRAF inhibitors and MEK inhibitors. These treatments have shown promise in treating ECD patients with BRAF V600E mutations, providing a new treatment option for a disease that previously had limited therapeutic options. ECD can also present with cardiovascular involvement, leading to pericardial and aortic thickening, which can cause significant morbidity and mortality. Cardiac involvement is associated with a poorer prognosis and is often resistant to conventional treatments, requiring alternative therapeutic strategies such as targeted therapies or surgical intervention. The rarity of ECD has limited the number of clinical trials investigating new treatments, and there is a need for collaboration between clinicians and researchers to improve our understanding of the disease's pathophysiology and develop more effective therapies.[4]
The development of registries and patient cohorts can facilitate the sharing of data and resources and enable better understanding of the natural history of the disease. ECD is a rare disease that can affect multiple organs and present with a variety of symptoms. A multidisciplinary approach to management is necessary, and treatment decisions must be tailored to individual patients' needs. Advances in genetic testing and targeted therapies provide new opportunities for treating ECD, and ongoing research is essential to improve our understanding of the disease and develop more effective treatments. [5].
conclusion
Erdheim-Chester disease is a rare, non-Langerhans histiocytosis that can affect multiple organs and have a significant impact on the quality of life of affected individuals. Diagnosis can be challenging due to the disease's rarity and variable presentation of symptoms, but early recognition and intervention can help improve outcomes. Although there is currently no standard treatment regimen for ECD, recent advances in genetic testing and targeted therapies provide new opportunities for treating the disease. Further research is needed to improve our understanding of the disease's pathophysiology and develop more effective treatments, and collaboration between clinicians and researchers is crucial to achieving this goal.
References
- Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester Disease: a comprehensive review of the literature.Orphanet J Rare Dis. 2013;8(5):1-3.
Indexed at, Google Scholar,Cross Ref
- Mazor RD, Manevich-Mazor M, Kesler A, et al. Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: a seven case series. BMC medicine. 2014;12(1):1-8.
Indexed at, Google Scholar, Cross Ref
- Tzoulis C, Schwarzlmüller T, Gjerde IO, et al. Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report.
Indexed at, Google Scholar, Cross Ref
- Cavalli G, Guglielmi B, Berti A, et al.The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases.. Ann Rheum Dis. 2013;72(10):1691-1695.strong>
Indexed at, Google Scholar, Cross Ref
- Stoppacciaro A, Ferrarini M, Salmaggi C, et al..Immunohistochemical evidence of a cytokine and chemokine network in three patients with Erdheim?Chester disease: implications for pathogenesis.J Rheumatol. 2006;54(12):4018-22.