Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature

Table 1 Routine blood tests of patients with cholesteryl ester storage disease and their adult family members

Blood tests	Patients
	F	M	M, 5 yr	F, 9 yr	M, 31 yr	M, 34 yr	M, 34 yr
Alanine amino transferase (U/L)	86	38	19	19	66	28	18
Alkaline phosphatase (U/L)	49	96	269	234	61	79	52
Total bilirubin (mg/dL)	0.94	0.35	0.58	0.29	0.41	0.94	0.41
International normalised ratio (INR)	0.9	1.0	1.1	1.1	0.9	1.0	0.9
Haemoglobin (g/L)	132.1	137	120.8	127.3	133.7	148.2	161.1
Platelets (109/L)	121	168	230	329	234	192	229

F: Female; M: Male. Blood tests for 7 years child unavailable.

Table 2 Lysosomal acid lipase activity and LIPA variants in family members of two patients with cholesteryl ester storage disease

Age	Gender	DBS	LIPA variant	Genotype
5	Male	1.03	c.482del, p.Asn161Ilefs*19	Heterozygote
7	Male	0.34	c.894G>A, p.Gln298Gln	Heterozygote
9	Female	1.33	WT	Normal
31	Male	0.22	c.894G>A, p.Gln298Gln	Heterozygote
34 34	Male Male	0.37 0.51	c.482del, p.Asn161Ilefs*19 c.482del, p.Asn161Ilefs*19	Heterozygote Heterozygote

DBS: Dried blood spot nmol/punch per hour; WT: Wildtype.

Table 3 Analysis of single nucleotide polymorphisms in family members of patients with cholesteryl ester storage disease

Age	Gender	MBOAT7	PNPLA3
5	Male	Rs641738 [C/T]; CT
7	Male	Rs641738 [C/T]; CT
9	Female	Rs641738 [C/T]; TT
31 34	Male Male	Rs641738 [C/T]; CT Rs641738 [C/T]; CT	Rs738409 [C/G]; CG
341	Male		Rs738409 [C/G]; GG

¹The patient also had TM6SF2 Rs58542926 [C/T]; CT.