Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China

Zhili Jin,
Yini Wang,
Jingshi Wang,
Jia Zhang,
Lin Wu,
Zhuo Gao,
Wenyuan Lai and
Zhao WangEmail author

Orphanet Journal of Rare Diseases201813:17

https://doi.org/10.1186/s13023-017-0753-7

Received: 16 July 2017

Accepted: 29 December 2017

Published: 22 January 2018

Abstract

Background

This study investigated the clinical characteristics of primary hemophagocytic lymphohistiocytosis (HLH) in adults, including immunological markers, pedigree findings, and conditions of allogeneic hematopoietic stem cell transplantation (Allo-HSCT).

Methods

The study included clinical data of 18 adult patients with primary HLH treated in our center from June 2010 to January 2017.

Results

Of these 18 cases, pathogenic variants were found in the following genes: PRF1 (n = 11), UNC13D (n = 5), SH2D1A (n = 2), RAB27a (n = 1), and LYST (n = 2). One patient had pathogenic variants in both PRF1 and UNC13D genes, one patient had pathogenic variants in both LYST and UNC13D genes and another patient had pathogenic variants in both PRF1 and SH2D1A genes. Additionally, 3 of the 18 cases involved homozygous pathogenic variants, while 2 cases involved hemizygous pathogenic variants. The remaining 13 cases involved compound heterozygous pathogenic variants. The natural killer (NK) cell activity test was conducted in all 18 cases where 14(77.8%)patients showed reduction in NK cell activity. Furthermore, this article presents 3 representative results of the pedigree findings from 12 patients who underwent family surveys. The 8 patients who underwent Allo-HSCT had a median survival of 27.2 months, as compared with the median survival of 7 months for the10 patients who did not undergo Allo-HSCT, a significant difference between the two groups of patients (p = 0.006).

Conclusion

PRF1 was one of the most commonly mutated gene in adult patients with primary HLH. Family surveys and immunological markers were important for the HLH diagnosis and the selection of an appropriate donor. Allo-HSCT was an effective therapy for adult primary HLH.