A rare presentation of hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening multisystem disorder characterized by immune system dysregulation, hypercytokinemia, and hyperinflammation. This excessive inflammatory response is triggered by the uncontrolled activation of macrophages and T-lymphocytes, leadi...

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Main Authors: Abinaya Srinivasa Rangan, Nithesh Babu Ramesh, Keesari Sai Sandeep Reddy, Raghunathan E. G., Prasanna Karthik Suthakaran
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2024-09-01
Series:Romanian Journal of Rheumatology
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Online Access:https://rjr.com.ro/articles/2024.3/RJR_2024_3_Art-04.pdf
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author Abinaya Srinivasa Rangan
Nithesh Babu Ramesh
Keesari Sai Sandeep Reddy
Raghunathan E. G.
Prasanna Karthik Suthakaran
author_facet Abinaya Srinivasa Rangan
Nithesh Babu Ramesh
Keesari Sai Sandeep Reddy
Raghunathan E. G.
Prasanna Karthik Suthakaran
author_sort Abinaya Srinivasa Rangan
collection DOAJ
description Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening multisystem disorder characterized by immune system dysregulation, hypercytokinemia, and hyperinflammation. This excessive inflammatory response is triggered by the uncontrolled activation of macrophages and T-lymphocytes, leading to widespread tissue damage. Systemic Lupus Erythematosus (SLE), a chronic autoimmune disease, involves the immune system’s loss of tolerance to nuclear selfantigens, resulting in the production of damaging autoantibodies that can affect multiple organ systems. In this case report, we describe a rare presentation of HLH in a young female patient with a known history of SLE. She initially presented with acute respiratory distress syndrome (ARDS), an uncommon but serious manifestation of HLH. The patient, who had discontinued her lupus medications two years prior, developed high grade fever, generalized myalgia, and progressive respiratory distress, necessitating mechanical ventilation. Her condition rapidly deteriorated despite aggressive supportive measures, with laboratory investigations revealing pancytopenia, hyperferritinemia, and elevated inflammatory markers, ultimately leading to the diagnosis of HLH. This case highlights the diagnostic challenges and the importance of early recognition of HLH in patients with underlying autoimmune conditions, such as SLE, who present with severe systemic inflammation and respiratory failure. Timely intervention is crucial, as delay in diagnosis and treatment can result in fatal outcomes. The case underscores the need for heightened clinical suspicion of HLH in similar presentations, as well as a multidisciplinary approach to management to improve patient prognosis.
format Article
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spelling doaj-art-25e841c6236a464c86bbd3081f877caa2025-08-20T02:36:45ZengAmaltea Medical Publishing HouseRomanian Journal of Rheumatology1843-07912069-60862024-09-0133319119610.37897/RJR.2024.3.4A rare presentation of hemophagocytic lymphohistiocytosisAbinaya Srinivasa Rangan0Nithesh Babu Ramesh1Keesari Sai Sandeep Reddy2Raghunathan E. G.3Prasanna Karthik Suthakaran4Department of General Medicine, Saveetha Medical College and Hospital, Thandalam, Chennai, Tamil Nadu, IndiaDepartment of General Medicine, Saveetha Medical College and Hospital, Thandalam, Chennai, Tamil Nadu, IndiaDepartment of General Medicine, Saveetha Medical College and Hospital, Thandalam, Chennai, Tamil Nadu, IndiaDepartment of General Medicine, Saveetha Medical College and Hospital, Thandalam, Chennai, Tamil Nadu, IndiaDepartment of General Medicine, Sri Venkateswaraa Medical College Hospital, Red Hills, Chennai, Tamil Nadu, IndiaHemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening multisystem disorder characterized by immune system dysregulation, hypercytokinemia, and hyperinflammation. This excessive inflammatory response is triggered by the uncontrolled activation of macrophages and T-lymphocytes, leading to widespread tissue damage. Systemic Lupus Erythematosus (SLE), a chronic autoimmune disease, involves the immune system’s loss of tolerance to nuclear selfantigens, resulting in the production of damaging autoantibodies that can affect multiple organ systems. In this case report, we describe a rare presentation of HLH in a young female patient with a known history of SLE. She initially presented with acute respiratory distress syndrome (ARDS), an uncommon but serious manifestation of HLH. The patient, who had discontinued her lupus medications two years prior, developed high grade fever, generalized myalgia, and progressive respiratory distress, necessitating mechanical ventilation. Her condition rapidly deteriorated despite aggressive supportive measures, with laboratory investigations revealing pancytopenia, hyperferritinemia, and elevated inflammatory markers, ultimately leading to the diagnosis of HLH. This case highlights the diagnostic challenges and the importance of early recognition of HLH in patients with underlying autoimmune conditions, such as SLE, who present with severe systemic inflammation and respiratory failure. Timely intervention is crucial, as delay in diagnosis and treatment can result in fatal outcomes. The case underscores the need for heightened clinical suspicion of HLH in similar presentations, as well as a multidisciplinary approach to management to improve patient prognosis.https://rjr.com.ro/articles/2024.3/RJR_2024_3_Art-04.pdfhemophagocytic lymphohistiocytosisacute respiratory distress syndrome (ards)systemic lupus erythematosusmacrophage activation syndromeautoimmune diseasehyperinflammation
spellingShingle Abinaya Srinivasa Rangan
Nithesh Babu Ramesh
Keesari Sai Sandeep Reddy
Raghunathan E. G.
Prasanna Karthik Suthakaran
A rare presentation of hemophagocytic lymphohistiocytosis
Romanian Journal of Rheumatology
hemophagocytic lymphohistiocytosis
acute respiratory distress syndrome (ards)
systemic lupus erythematosus
macrophage activation syndrome
autoimmune disease
hyperinflammation
title A rare presentation of hemophagocytic lymphohistiocytosis
title_full A rare presentation of hemophagocytic lymphohistiocytosis
title_fullStr A rare presentation of hemophagocytic lymphohistiocytosis
title_full_unstemmed A rare presentation of hemophagocytic lymphohistiocytosis
title_short A rare presentation of hemophagocytic lymphohistiocytosis
title_sort rare presentation of hemophagocytic lymphohistiocytosis
topic hemophagocytic lymphohistiocytosis
acute respiratory distress syndrome (ards)
systemic lupus erythematosus
macrophage activation syndrome
autoimmune disease
hyperinflammation
url https://rjr.com.ro/articles/2024.3/RJR_2024_3_Art-04.pdf
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