familial hemophagocytic lymphohistiocytosis

ORPHA: 540

Contents

1. Available Treatments
2. Clinical Presentation
3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with familial hemophagocytic lymphohistiocytosis, sourced from HPO and Orphanet clinical annotations.

Abnormal natural killer cell physiologyThrombocytopeniaAnemiaFeverElevated circulating hepatic transaminase concentrationImmune dysregulationHypoalbuminemiaIncreased circulating ferritin concentrationAbnormal circulating cytokine concentrationAbnormality of tumor necrosis factor secretionAbnormality of multiple cell lineages in the bone marrowHemophagocytosisIncreased circulating interferon-gamma concentrationPetechiaePurpuraSkin rashErythrodermaDecreased liver functionSplenomegalyDecreased total neutrophil countAbnormality of the respiratory systemHypertriglyceridemiaHepatomegalyCholestatic liver diseaseLymphadenopathyAbnormality of the coagulation cascadeAbnormal skin morphologyHypofibrinogenemiaAbnormal renal physiologyCSF pleocytosisIncreased circulating interleukin 6 concentrationEcchymosisAbnormality of the nervous systemJaundiceBruising susceptibilitySeizureComaInfectious encephalitisAbnormal cerebral white matter morphologyColitisFunctional motor deficitDecreased circulating immunoglobulin concentrationPeripheral neuropathyMaculopapular exanthemaSensorineural hearing impairment

Classification & Codes

Orphanet Code

ORPHA:540

familial hemophagocytic lymphohistiocytosis

Orphanet	`ORPHA:540`
Treatments	0 drug(s)
Symptoms on record	45 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO