Gurpreet Kaur¹, Ankur Ahuja¹*, Vikram Singh¹, Paresh Singhal¹, Arijit Sen², Metaanksha³ and Gaurav Gahlot⁴

¹Associate Professor, Department of Pathology, Armed Forces Medical College, Pune, India
²Professor and HOD, Armed Forces Medical College, Pune, Indiaa
³Second Year MMBS Student, Himalayan Institute of Medical Sciences, Jolly Grans, Dehradun, India
⁴Professor, Department of Pathology, Armed Forces Medical College, Pune, India

*Corresponding Author: Ankur Ahuja, Associate Professor, Department of Pathology, Armed Forces Medical College, Pune, India.

Received: April 17, 2022; Published: April 29, 2022

Abstract

Objective: Hemophagocytic lymphohistiocytosis (HLH) is an aggressive and life-threatening syndrome of excessive inflammation due lack of normal downregulation of activated macrophages and lymphocytes. Initial signs and symptoms of HLH can mimic common infections, fever of unknown origin, hepatitis, or encephalitis. As the presenting features are non specific therefore HLH diagnosis remains a challenge and needs a high degree of suspicion. A detailed history clinical examination and the patients laboratory findings help arrive at a conclusive diagnosis. In this study we attempt to present clinical and laboratory features of a series of HLH cases.

Material and Methods: This was a retrospective study wherein all the bone marrow aspirate smears with a diagnosis of HLH between January 2018 to March 2023 were studied. The morphological clinical and biochemical parameter were correlated.

Results: A total of seventeen cases were diagnosed as HLH from January 2018 to March 2023. Twelve patients fulfilled 5 out of 8 clinical and lab diagnostic criteria of HLH (2004). Three cases of familial HLH were also diagnosed after testing for molecular alterations and these were upfront diagnosed as HLH while for the rest the diagnosis was suggested after correlating clinical and laboratory criteria with bone marrow findings.

Conclusion: We present a series of seventeen cases of Hemophagocytic Lymphohistiocytosis from a tertiary care hospital. A high degree of suspicion aided by relevant clinical and biochemical criteria is essential for diagnosis for institution of therapy and to prevent morbidity and mortality.

Keywords: Hemophagocytic Lymphohistiocytosis; Hyperferritinemia; Pancytopenia

References

1. Farquhar JW and Claireaux AE. “Familial haemophagocyticreticulosis”. Archives of Disease in Childhood 27 (1952): 519-525.
2. George MR. “Hemophagocytic lymphohistiocytosis: review of etiologies and management”. Journal of Blood Medicine 5 (2014): 69-86.
3. Griffin G., et al. “Hemophagocytic lymphohistiocytosis: An update on pathogenesis, diagnosis, and therapy”. Best Practice and Research: Clinical Rheumatology4 (2020): 101515.
4. Rosado FG and Kim AS. “Hemophagocytic lymphohistiocytosis: An update on diagnosis and pathogenesis”. American Journal of Clinical Pathology 139 (2013): 713-727.
5. Ravelli A., et al. “Macrophage Activation Syndrome”. Hematology/Oncology Clinics of North America 5 (2015): 927-941.
6. Deane S., et al. “Macrophage activation syndrome in autoimmune disease”. International Archives of Allergy and Immunology 153 (2010): 109-120.
7. Henter JI., et al. “Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis”. Acta Paediatrica Scandinavica 80 (1991): 428-435.
8. Henter JI., et al. “HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis”. Pediatric Blood Cancer 48 (2007): 124-131.
9. Jordan MB., et al. “Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from The North American Consortium for histiocytosis (NACHO)”. Pediatric Blood Cancer 11 (2019): e27929.
10. Wang H., et al. “A systematic review of malignancy-associated hemophagocytic lymphohistiocytosis that needs more attentions”. Oncotarget 35 (2017): 59977e85.
11. Kumar Vijay., et al. “Case Series of Hemophagocytic Lymphohistiocytosis from a Tertiary Care Centre: An Underdiagnosed Entity”. Turkish Journal of Pathology 35 (2019).
12. Reddy S., et al. “Haemophagocytic lymphohistiocytosis (HLH): Case series in tertiary referral hospital over three years”. Journal of the Association of Physicians of India 61 (2013): 850-852.
13. Rajagopala S., et al. “Severe hemophagocytic lymphohistiocytosis in adults-experience from an intensive care unit from North India”. Indian Journal of Critical Care Medicine 16 (2012): 198-203.
14. Joshi R., et al. “Haemophagocytic lymphohistiocytosis: A case series from Mumbai”. Annals of Tropical Paediatrics 31 (2011): 135-140.
15. Ramachandran B., et al. “Profile of hemophagocytic lymphohistiocytosis in children in a tertiary care hospital in India”. Indian Pediatrics 48 (2011): 31-35.
16. Gopal GK., et al. “Scrub typhus associated macrophage activation syndrome”. Tropical Doctor 40 (2010): 249-250.
17. Rajagopala S., et al. “Visceral leishmaniasis associated hemophagocytic lymphohistiocytosis-case report and systematic review”. Journal of Infection 56 (2008): 381-388.
18. Allen CE., et al. “Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis”. Pediatric Blood Cancer6 (2008): 1227-1235.
19. Paul La Rosée., et al. “Recommendations for the management of hemophagocytic lymphohistiocytosis in adults”. Blood23 (2019): 2465-2477.
20. Abdalgani M., et al. “Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations”. Blood 126 (2015): 1858-1860.
21. Canna SW and Marsh RA. “Pediatric hemophagocytic lymphohistiocytosis”. Blood 135 (2020): 1332-1343.
22. Gadoury-Levesque V., et al. “Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders’. Blood Advances 4 (2020): 2578-2594.

Citation

Citation: Ankur Ahuja., et al. “A Case Series of Hemophagocytic Lymphohistiocytosis from a Tertiary Care Centre: A Rare and Underdiagnosed Entity”.Acta Scientific Cancer Biology 7.3 (2023): 15-19.

Copyright

Copyright: © 2023 Ankur Ahuja., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.