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Tangier disease with normal serum cholesterol

R W Frith, S F Hannan, J P Simcock

Australian and New Zealand Journal of Medicine

|October 1, 1982

Summary

Tangier Disease typically causes low cholesterol and absent high-density lipoprotein (HDL). However, some homozygotes with familial combined hyperlipidaemia show normal cholesterol levels, indicating a complex interaction.

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Area of Science:

Lipid metabolism disorders
Genetics of cardiovascular disease
Molecular endocrinology

Background:

Tangier Disease, a rare genetic disorder, is characterized by severe deficiency of high-density lipoprotein (HDL) and abnormal cholesterol ester deposition.
Familial combined hyperlipidaemia (FCH) is a common inherited lipid disorder associated with elevated levels of total cholesterol, LDL cholesterol, and triglycerides.
Understanding the interplay between different genetic lipid disorders is crucial for accurate diagnosis and management.

Observation:

Description of three Tangier Disease patients from a single family.
One patient exhibits classical Tangier Disease phenotype with hypoalphalipoproteinaemia and low serum cholesterol.
Two siblings, despite being Tangier Disease homozygotes, present with normal serum cholesterol levels.

Findings:

The normal cholesterol levels in Tangier Disease homozygotes were attributed to co-existing heterozygosity for familial combined hyperlipidaemia.
This suggests that FCH can mask the hypocholesterolemic effect of Tangier Disease.
The inheritance patterns of Tangier Disease and FCH in this family appear independent.

Implications:

Highlights the importance of considering co-inherited genetic conditions when diagnosing lipid disorders.
Suggests that genetic screening for FCH may be beneficial in Tangier Disease patients with atypical lipid profiles.
Provides insights into the complex genetic architecture influencing lipoprotein metabolism and cardiovascular risk.

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