Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

Table 1 Demographic, clinical, biochemical and genetic data at the diagnosis

	Sex	Age at symptoms onset (years)	Signs and symptoms	Age at diagnosis (years)	LIPA pathogenic variants	Enzyme activity	ALT (UI/L)	Cholesterol (mmol/L)	TG (mmol/L)
1	F	7.5	Severe hepato-splenomegaly	9.2	c.894G > A //c.652 C > T	2,5^a	134	7.26	1.36
2	F	9.9	Mild hepato-splenomegaly	9.9	c.894G > A //c.652 C > T	1,6^a	137	7.83	2.28
3	M	18	Mild hepato-splenomegaly	20.5	c.894G > A//c.894G > A	0.03^b	115	7.70	1.20

^aLAL activity in blood lymphocytes (Reference values: 56.1 ± 7.6 nmol/mg protein/h);^b LAL activity in Dried Blood Spot; (Reference values: 0.8–3.0 nmol/punch/h); ALT reference 10–45 U/L, Cholesterol reference value below 5.17 mmol/L, Triglycerides reference value 0.3–1.7

ISSN: 1750-1172