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Table 2 Reported cases of patients with WD and sHLH

From: Wolman’s disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review

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
  1. HLH hemophagocytic lymphohistiocytosis, HSCT hematopoietic stem cell transplant, LAL lysosomal acid lipase, sHLH secondary hemophagocytic lymphohistiocytosis, WD Wolman’s disease, NR not reported
  2. *Elsayed et al. reported additional 2 patients with genetically confirmed WD but they did not fulfill HLH criteria