Christian was diagnosed at about 14 yo based on low LDL cholesterol and non existent VLDL.
Christian, was a member of the hypobetalipoproteinemia Facebook group started by his Mother in hopes of gaining information. He has two missense variants of uncertain clinical significance in the APOB gene NM_000384.2:c.8408T>C and NM_000384.2:c.11833A>G. These two APOB variants are found together on chromosome 2p24.1 The geneticist says they are rare and have been found to be benign in most, but damaging in some.
His lipid profile is:
Total: 85 mg/dl
Triglycerides: 63 mg/dl
HDL: 50 mg/dl
LDL: 22 mg/dl
ApoB: 32 mg/dl
He has many unexplainable health issues that his family continues to try to get to the bottom of. They joined the Abetalipoproteinemia FB group years ago to try to determine whether some of his medical issues were related to these genetic variants. Even though he doesn’t have apob, it was similar enough they thought there might be information that could be would be found in this group..
Christian has always looked malnourished and has naturally avoided fatty foods. He had pretty extreme jaundice and was failure to thrive most of his young life. He couldn’t keep formula down. When he was a young boy he was diagnosed with a growth hormone deficiency and started hormone therapy. Because of his extreme aversion for fatty foods (dairy) he has also been diagnosed with osteoporosis. We can’t seem to get enough calcium into him now and his endocrinologist has wondered if his inability to store calcium might be associated with his hypobeta. Christian is 22 years old now and is on disability.
