IllnessSitosterolemia, differential diagnosis

NGS +

In sitosterolemia, phytosterols from vegetable oils, nuts and other plant foods accumulate in the blood and tissues. Yet, sitosterol is only one of several sterols that accumulate in this condition, with blood levels reaching 30 to 100 times normal ones. Cholesterol levels are mildly to moderately elevated in many people with sitosterolemia, but are particularly high in some affected children. Some patients, however, have normal cholesterol levels, and a few even have no obvious symptoms at all. Nevertheless, atherosclerosis can occur in childhood, increasing the risk of heart attack, stroke or sudden death. Some patients develop small yellowish xanthomas in childhood. Large xanthomas can cause pain and difficulty with joint movement. Less commonly, affected individuals have abnormal blood counts, sometimes as the only signs, such as hemolytic anemia (sometimes stomatocytic) and/or macrothrombocytopenia. Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene that impair the excretion of plant sterols and, to a lesser extent, cholesterol from the body. Sitosterolemia is inherited in an autosomal recessive manner, and the differential diagnosis includes several additional genes. Because the diagnostic yield is unknown, a negative molecular genetic result may not exclude the clinical or laboratory chemical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK131810/

• Allelic: Fish-eye disease (LCAT)
• Allelic: Gallbladder disease 4 (ABCG8)
• Cerebrotendinous xanthomatosis (CYP27A)
• Cholesteryl ester storage disease (LIPA)
• HDL deficiency, familial, 1 (ABCA1)
• Hypercholesterolemia, familial, 1 (LDLR)
• Hypercholesterolemia, familial, 2 (APOB)
• Hypercholesterolemia, familial, 3 (PCSK9)
• Hypercholesterolemia, familial, 4 (LCAT)
• Hypobetalipoproteinemia (APOB)
• LDL cholesterol level QTL2 (LDLR)
• Low density lipoprotein cholesterol level QTL 1 (PCSK9)
• Norum disease (LCAT)
• Sitosterolemia 1 (ABCG8)
• Sitosterolemia 2 (ABCG5)
• Tangier disease (ABCA1)
• Wolman disease (LIPA)