IllnessHypobeta-lipoproteinemia, differential diagnosis

NGS +

Hypobetalipoproteinemia (HBL) is characterized by low cholesterol levels in the blood. The severity of symptoms varies widely. Most mildly affected individuals have only minor problems with the absorption of dietary fats. Yet, many HBL patients develop hepatic steatosis. In more severely affected individuals, the fatty liver can progress to cirrhosis. Marked HBL impedes the absorption of fats (including fat-soluble vitamins E and A) and leads to steatorrhea. In childhood, digestive problems can lead to failure to thrive. Although mutations in the APOB gene are responsible for most cases of HBL, mutations in some other genes cause a small number of cases. In some HBL patients, no mutations are detectable in these genes. APOB HBL is inherited in an autosomal co-dominant manner. A negative result in molecular genetic testing does not exclude the clinical/laboratory diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK570370/

• Abetalipoproteinemia (MTTP)
• Chylomicron retention disease (SAR1B)
• Familial dysbetalipoproteinaemia [panelapp] (APOE)
• Hypobetalipoproteinemia (APOB)
• Hypobetalipoproteinemia [literature] (ANGPTL8)
• Hypobetalipoproteinemia [literature] (PCSK9)
• Hypobetalipoproteinemia, familial, 2 (ANGPTL3)
• Plasma triglyceride level QTL, low (ANGPTL4)
• Allelic: Alzheimer disease 2 (APOE)
• Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch (APOE)
• Allelic: Coronary artery disease, severe, susceptibility to (APOE)
• Allelic: Hypercholesterolemia, familial, 2 (APOB)
• Allelic: Hypercholesterolemia, familial, 3 (PCSK9)
• Allelic: Hyperlipoproteinemia, type III (APOE)
• Allelic: Lipoprotein glomerulopathy (APOE)
• Allelic: Low density lipoprotein cholesterol level QTL 1 (PCSK9)
• Allelic: Macular degeneration, age-related (APOE)
• Allelic: Metabolic syndrome, protection against (MTTP)
• Allelic: Sea-blue histiocyte disease (APOE)