# Hemophagocytic Lymphohistiocytosis and the Liver Masquerade

**Authors:** Hadasa Banayan, Jieqi Liu, Dominique Haoson

PMC · DOI: 10.7759/cureus.87133 · Cureus · 2025-07-01

## TL;DR

This case report describes a rare and complex case of hemophagocytic lymphohistiocytosis (HLH) that presented with liver symptoms and blood cell deficiencies, highlighting the difficulty in diagnosing such conditions.

## Contribution

The paper contributes a rare case of HLH with atypical liver presentation, emphasizing diagnostic challenges in similar clinical scenarios.

## Key findings

- HLH can present with liver symptoms and pancytopenia, mimicking other conditions.
- Chronic alcohol use disorder can complicate the clinical picture and delay diagnosis.
- Early clinical suspicion and thorough investigation are crucial for diagnosing HLH.

## Abstract

We present a case of hemophagocytic lymphohistiocytosis (HLH) with a complex presentation that could have been easily mistaken as one of many alternative diagnoses. Our patient, with chronic alcohol use disorder, presented with new-onset liver symptoms and pancytopenia. This case underscores the importance of clinical suspicion and further investigation of a wide differential. The purpose of this case report is to highlight the diagnostic challenges and nuances in patient presentation that can mislead healthcare providers while emphasizing the ambiguity of liver failure symptoms in patients with undiagnosed HLH.

## Linked entities

- **Diseases:** hemophagocytic lymphohistiocytosis (MONDO:0015540), liver failure (MONDO:0100192)

## Full-text entities

- **Genes:** ALPP (alkaline phosphatase, placental) [NCBI Gene 250] {aka ALP, PALP, PLAP, PLAP-1}, BCL10 (BCL10 immune signaling adaptor) [NCBI Gene 8915] {aka CARMEN, CIPER, CLAP, IMD37, c-E10, mE10}, TF (transferrin) [NCBI Gene 7018] {aka HEL-S-71p, PRO1557, PRO2086, TFQTL1}, CCND1 (cyclin D1) [NCBI Gene 595] {aka BCL1, D11S287E, PRAD1, U21B31}, STX11 (syntaxin 11) [NCBI Gene 8676] {aka FHL4, HLH4, HPLH4}, LYST (lysosomal trafficking regulator) [NCBI Gene 1130] {aka CHS, CHS1, Mauve}, CD5 (CD5 molecule) [NCBI Gene 921] {aka LEU1, T1}, UNC13D (unc-13 homolog D) [NCBI Gene 201294] {aka HLH3, HPLH3, Munc13-4}, RAB27A (RAB27A, member RAS oncogene family) [NCBI Gene 5873] {aka GS2, HsT18676, RAB27, RAM}, FUT4 (fucosyltransferase 4) [NCBI Gene 2526] {aka CD15, ELFT, FCT3A, FUC-TIV, FUTIV, LeX}, PWWP3A (PWWP domain containing 3A, DNA repair factor) [NCBI Gene 84939] {aka EXPAND1, HSPC211, MUM-1, MUM1}, CEACAM3 (CEA cell adhesion molecule 3) [NCBI Gene 1084] {aka CD66D, CEA, CGM1, CGM1a, W264, W282}, FGB (fibrinogen beta chain) [NCBI Gene 2244] {aka HEL-S-78p}, KRT20 (keratin 20) [NCBI Gene 54474] {aka CD20, CK-20, CK20, K20, KRT21}, MME (membrane metalloendopeptidase) [NCBI Gene 4311] {aka CALLA, CD10, CMT2T, NEP, SCA43, SFE}, TNFRSF8 (TNF receptor superfamily member 8) [NCBI Gene 943] {aka CD30, D1S166E, Ki-1}, GPT (glutamic--pyruvic transaminase) [NCBI Gene 2875] {aka AAT1, ALT, ALT1, GPT1, SGPT}, IL2RA (interleukin 2 receptor subunit alpha) [NCBI Gene 3559] {aka CD25, IDDM10, IL2R, IMD41, TCGFR, p55}, ALB (albumin) [NCBI Gene 213] {aka FDAHT, HSA, PRO0883, PRO0903, PRO1341}, BCL6 (BCL6 transcription repressor) [NCBI Gene 604] {aka BCL5, BCL6A, LAZ3, ZBTB27, ZNF51}, STXBP2 (syntaxin binding protein 2) [NCBI Gene 6813] {aka Hunc18b, MUNC18-2, UNC18-2, UNC18B, pp10122, unc-18B}, PAX5 (paired box 5) [NCBI Gene 5079] {aka ALL3, BSAP, PAX-5}, SLC17A5 (solute carrier family 17 member 5) [NCBI Gene 26503] {aka AST, ISSD, NSD, SD, SIALIN, SIASD}, AFP (alpha fetoprotein) [NCBI Gene 174] {aka AFPD, FETA, HPAFP}, PRF1 (perforin 1) [NCBI Gene 5551] {aka HPLH2, P1, PFP}, IL2 (interleukin 2) [NCBI Gene 3558] {aka IL-2, TCGF, lymphokine}
- **Diseases:** septic shock (MESH:D012772), icterus (MESH:D007565), -Stage Liver Disease (MESH:D058625), hypothyroidism (MESH:D007037), splenomegaly (MESH:D013163), macrophage activation syndrome (MESH:D055501), leukocytosis (MESH:D007964), familial HLH type 2-5 (MESH:C567752), vomiting (MESH:D014839), alcoholic liver disease (MESH:D008108), hyperammonemia (MESH:D022124), fever (MESH:D005334), loss of appetite (MESH:D001068), Lymphoma (MESH:D008223), chronic (MESH:D002908), hypercytokinemia (MESH:D000080424), hyperbilirubinemia (MESH:D006932), gastrointestinal bleeds (MESH:D006471), thrombocytopenia (MESH:D013921), Castleman's (MESH:D005871), weakness (MESH:D018908), immune dysregulation (OMIM:614878), CMV (MESH:D003586), Hodgkin's lymphoma (MESH:D006689), acute hepatitis (MESH:D017114), Hyperferritinemia (MESH:D000085583), neutropenia (MESH:D009503), cancer (MESH:D009369), multiorgan failure (MESH:D051437), inflammation (MESH:D007249), B, and C (MESH:D019694), liver failure (MESH:D017093), Pancytopenia (MESH:D010198), infection (MESH:D007239), bi-cytopenia (MESH:D006402), weight loss (MESH:D015431), neutrophilia (MESH:C563010), abdominal pain (MESH:D015746), hyponatremia (MESH:D007010), lymphadenopathy (MESH:D008206), aplastic anemia (MESH:D000741), T/NK-cell lymphoma (MESH:D000077428), hypertriglyceridemia (MESH:D015228), alcohol use disorder (MESH:D000437), hyperkalemia (MESH:D006947), malnourished (MESH:D044342), Abdominal-Pelvis Ascites (MESH:D000007), folate deficiency (MESH:C562799), melanoma (MESH:D008545), Hepatosplenomegaly (MESH:C535727), alcoholic liver cirrhosis (MESH:D008104), masses (MESH:C536030), DIC (MESH:D004211), refeeding syndrome (MESH:D055677), autoimmune and rheumatological disorders (MESH:D001327), HLH (MESH:D051359), DLBCL (MESH:D016403), sepsis (MESH:D018805), Hepatitis (MESH:D056486), chronic liver disease (MESH:D008107)
- **Chemicals:** Lasix (MESH:D005665), acetylcysteine (MESH:D000111), Iron (MESH:D007501), hypertonic saline (MESH:D012965), lactate (MESH:D019344), cyclophosphamide (MESH:D003520), prednisolone, vincristine, cyclophosphamide, and doxorubicin (-), steroids (MESH:D013256), ceftriaxone (MESH:D002443), vitamin K (MESH:D014812), rituximab (MESH:D000069283), triglycerides (MESH:D014280), etoposide (MESH:D005047), Alcohol (MESH:D000438), bilirubin (MESH:D001663), solumedrol (MESH:D008776), urea (MESH:D014508), dexamethasone (MESH:D003907), B12 (MESH:C034730)
- **Species:** Homo sapiens (human, species) [taxon 9606], human gammaherpesvirus 4 (Epstein Barr virus, no rank) [taxon 10376], Human gammaherpesvirus 8 (no rank) [taxon 37296], Enterovirus (genus) [taxon 12059]

## Full text

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## Figures

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## References

17 references — full list in the complete paper: https://tomesphere.com/paper/PMC12313311/full.md

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Source: https://tomesphere.com/paper/PMC12313311