Table 2.

Reported cases of patients with WD and sHLH

Study	Country	Presentation	WD diagnosis	Fulfilled HLH criteria	Treatment	Outcome
Al Essa et al. 1998 [11]	Saudi Arabia	4 months with WD and sHLH	Low LAL activity	Fulfilled HLH-1994 criteria	Supportive Specific: NR	Died
Perry et al. 2005 [12]	Canada	2 siblings presented at 49 and 26 days with WD and sHLH	Low LAL activity on autopsy	Presumptive diagnosis	Chemotherapy HSCT	Died
Rabah et al. 2014 [13]	Oman	2 months with WD and sHLH	Low cholesteryl esterase, LIPA sequencing negative	Yes	Supportive HLH-2004 protocol	Died
Turasino et al. 2014 [14]	Italy	3 months with WD and sHLH	Low LAL activity	Yes	Supportive Specific: NR	Died
Elsayed et al. 2015* [15]	Egypt	2.5 months with WD and sHLH	Homozygous mutation G969A (W130X)	Yes	NR	NR
Yavus et al. 2017 [16]	Turkey	2 months with WD and sHLH	Low LAL enzyme, heterozygous variation at LIPA gene location c:260G > T (GGC > GTC), p.Gly87Val	Yes	Supportive Specific: NR	Died
Tinsa et al. 2019 [17]	Tunis	4 months sHLH and WD	Homozygous mutation c.153 C > A (p.Tyr51*)	Yes	Supportive	Died
Our patient	Saudi Arabia	4 months sHLH in WD	Low LAL activity, homozygous deletion c.(428 + 1_967-1)_(*1_?)del in the LIPA gene	Yes	Supportive HLH-2004 protocol	Died

HLH hemophagocytic lymphohistiocytosis, HSCT hematopoietic stem cell transplant, LAL lysosomal acid lipase, sHLH secondary hemophagocytic lymphohistiocytosis, WD Wolman’s disease, NR not reported

*Elsayed et al. reported additional 2 patients with genetically confirmed WD but they did not fulfill HLH criteria