An unusual case of hypercholesterolaemia with liver dysfunction

Figures & data

Table 1: Trend of case patient's biochemical parameters

Parameters / date	08/2006	02/2007	07/2008	09/2008	03/2009	10/2009	10/2010	02/2012	09/2012	07/2015	05/2017	04/2018
TC	6.2	3.9	16.53	14.38	4.48	5.34	11.4	4.6	6.9	4.6	4.8	3.3
Trig	1.9	1.1	4.41	2.84	1.43	1.39	2.6	1.2	1.5	1.46	1.4	1.0
HDLC	1.29	0.8	0.64	0.82	0.75	0.84	0.8	0.8	0.8	1.2	1.0	1.0
LDLC	4.06	2.6	13.89	12.27	3.08	3.87	9.2	3.4	5.4	2.7	3.3	1.8
ALT	28	69		103	67	85	76	64	68	64	63	44
AST	30	92		74	48	68	59	51	58	53	55	39
ALP	35	48		113	125	68	55		57	49	46
GGT	21	29		34	31	38	29		36	30	21
Treatment	A80	A80	X	X	A80	A80	X	A80	R40	A80	A80 & E	A80 & E
		At presentation	At delivery	2 months post-partum							Initiation of ezetimibe

Abbreviations and (units): TC = total cholesterol (mmol/l); Trig = triglycerides (mmol/l); HDLC = high density lipoprotein cholesterol (mmol/l); LDLC = low density lipoprotein cholesterol (mmol/l); AST = aspartate transaminase (U/l); ALT = alanine transaminase (U/l); ALP = alkaline phosphatase (U/l); GGT = gamma-glutamyl transferase (U/l); X = no treatment; A80 = atorvastatin 80mg; R40 = rosuvastatin 40mg, E = ezetimibe.

Figure 1: Cellular cholesterol homeostasis in healthy individuals and patients with LAL deficiency.

Abbreviations: ACAT = acyl-CoA: cholesterol acyltransferase; CE = cholesterol ester; FA = fatty acid; FC = free cholesterol; HMG-SoAr = 3-hydroxy-3-methyl-glutaryl.CoA reductase; LDL-C = low-density lipoprotein cholesterol; LDLR = low density lipoprotein remnant; SREBPs = sterol regulatory element binding proteins; TG = triglyceride; VLDL-C = very low-density lipoprotein cholesterol.³

Reiner Ž, Guardamagna O, Nair D, et al. Lysosomal acid lipase deficiency – an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014;235(1):21–30. doi: 10.1016/j.atherosclerosis.2014.04.003

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