Adult-onset Primary Hemophagocytic Lymphohistiocytosis: Reporting a Rare Case with Review of Literature

Fatima Memon,Farheen Malik,Jawad Ahmed,Danish Memon,Junaid Ahmad

doi:10.7759/cureus.6723

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is an uncommon, aggressive hematological syndrome. It is caused by an increased and unchecked proliferation of T lymphocytes and histiocytes. These cells secrete a large number of inflammatory cytokines and infiltrate various tissues causing multi-organ system failure. HLH may be primary or associated with different types of infections, autoimmune disorders, or malignancies. Primary or familial HLH is fatal and is frequently considered a disorder of infants and young children. Only a few cases of primary HLH have been reported in adults. We present a case of a 37-year-old man who presented with fever, pancytopenia, and hepatosplenomegaly. Lymph node biopsy showed collections of histiocytes with lymphoplasmacytic cells. After excluding all the secondary causes a final diagnosis of primary HLH was made. The patient was started on HLH-2004 protocol (etoposide, cyclosporin A, dexamethasone) along with empiric antituberculous drugs as necrotic granulomas were also noted in the biopsy. HLH has a very poor prognosis and familiarity with clinical symptoms, and diagnostic criteria can aid in timely diagnosis.

Highlights

We present a case of a 37-year-old man who presented with fever, pancytopenia, and hepatosplenomegaly
Hemophagocytic lymphohistiocytosis (HLH) is a rare and fatal hematological disorder which results due to overactivation of the immune response
Inflammatory cytokines are produced in excess, creating a “cytokine storm” which results in clinical symptoms such as fever and rash [1]

Summary

Introduction

Hemophagocytic lymphohistiocytosis (HLH) is a rare and fatal hematological disorder which results due to overactivation of the immune response. Primary HLH in adults is an extremely rare entity, with a few scattered cases reported in the literature. We report a case of a 37-year-old man with primary HLH presenting with complaints of prolonged fever, pancytopenia, and hepatosplenomegaly. A 37-year-old man presented to the outpatient department of Agha Khan University Hospital with complaints of fever for five months and cough for one month His fever was recorded up to 100.4°F, and physical examination revealed hepatosplenomegaly without any palpable lymph nodes. He was started on the HLH-2004 protocol (etoposide [VP16], cyclosporin-A [CSA], and dexamethasone [DEX]) along with empiric antituberculosis drugs (ATT) due to the presence of necrotic granulomas in the biopsy [4].

Discussion

Conclusions

Findings

Disclosures

Janka GE