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Updated: Aug 11, 2026
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Published on: March 6, 2012
Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes
American Journal of Medical Genetics
|November 1, 1985
Summary
Familial hypercholesterolemia carriers with low cholesterol and high HDL levels may be protected from cardiovascular risks. This suggests a potential protective mechanism against the genetic disorder.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Biochemistry
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels.
- Homozygous FH is severe, while heterozygous FH presents with elevated cholesterol.
- This study investigates a family with a homozygous FH proposita and her heterozygous parents.
Observation:
- The proposita has homozygous, receptor-defective familial hypercholesterolemia.
- Her parents are obligate heterozygotes but exhibit normal cholesterol levels.
- The family has a history of unusual longevity.
Findings:
- Heterozygous parents of a homozygous FH patient displayed normal cholesterol and high HDL cholesterol.
- This phenotype was observed despite the confirmed presence of the heterozygous biochemical disorder.
- Paternity was firmly documented, ruling out non-paternity as an explanation.
Implications:
- Low serum cholesterol and high HDL cholesterol may be protective against risks in heterozygous FH.
- This suggests a potential genetic or lifestyle-related protective mechanism.
- Further research is warranted to explore these protective factors in managing FH.
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