Hemophagocytic lymphohistiocytosis classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Classification

HLH primarily categorized as

Familial (primary) hemophagocytic lymphohistiocytosis (FHL)
Secondary HLH (SHLH)

Familial forms

FHL, an autosomal recessive disorder, is invariably fatal when untreated. It is associated with defective triggering of apoptosis and reduced cytotoxic activity, resulting in a widespread accumulation of T lymphocytes and activated macrophages.

There are four types, and each is associated with a specific gene:

FHL1 – HPLH1
FHL2 – PRF1
FHL3 – UNC13D
FHL4 – STX11
FHL5 – STXBP2 (Syntaxin binding protein 2)/UNC18-2

Familial hemophagocytic lymphohistiocytosis has an autosomal recessive pattern of inheritance.

References

Template:WH Template:WS