. 2023 Jan 20;30(5):531–557. doi: 10.5551/jat.CR006

Table 3. Differential Diagnosis of Primary hyper LDL cholesterolemia.

Disease name	Cause	Identifying points
Sitosterolemia	ATP-binding cassette sub- family G member 5/8 (ABCG5, ABCG8) abnormality	Autosomal recessive inheritance Raised serum sitosterol Hyper-LDL cholesterolemia may not be significant even in the presence of xanthomas. Transiently in infancy, patients may present with hyper-LDL cholesterolemia at levels suspicious for HoFH.
Cerebrotendinous xanthomatosis (27-hydroxylase deficiency)	Sterol 27-hydroxylase (CYP27A1) abnormality	Autosomal recessive inheritance Progressive neurological disorders Raised serum cholestanol Serum cholesterol levels may not be high, but xanthomas are prominent. It also accumulates in the brain.
Wolman disease Cholesteryl ester storage disease (lysosomal acid lipase deficiency)	Lysosomal acid lipase (LIPA) abnormality	Autosomal recessive inheritance Hepatomegaly Typical cases present with marked hepatosplenomegaly and liver damage leading to fatty liver and cirrhosis, but the severity of the disease varies and some cases are not diagnosed until adulthood. Adults often present with hyper-LDL cholesterolemia .

Disease name

Cause

Identifying points

Sitosterolemia

ATP-binding cassette sub- family G member 5/8 (ABCG5, ABCG8)

abnormality

Autosomal recessive inheritance Raised serum sitosterol

Hyper-LDL cholesterolemia may not be significant even in the presence of xanthomas. Transiently in infancy, patients may present with hyper-LDL cholesterolemia at levels suspicious for HoFH.

Cerebrotendinous xanthomatosis (27-hydroxylase deficiency)

Sterol 27-hydroxylase (CYP27A1) abnormality

Autosomal recessive inheritance Progressive neurological disorders Raised serum cholestanol

Serum cholesterol levels may not be high, but xanthomas are prominent. It also accumulates in the brain.

Wolman disease

Cholesteryl ester storage disease (lysosomal acid lipase deficiency)

Lysosomal acid lipase (LIPA) abnormality

Autosomal recessive inheritance Hepatomegaly

Typical cases present with marked hepatosplenomegaly and liver damage leading to fatty liver and cirrhosis, but the severity of the disease varies and some cases are not diagnosed until adulthood. Adults often present with hyper-LDL cholesterolemia .