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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