Key Points
- Investigate the inheritance pattern and clinical consequences of apolipoprotein C-II deficiency in a large inbred kindred.
- Family pedigree analysis of relatives of an index patient from an isolated population with 140 years of inbreeding.
- Measurement of plasma triglycerides and quantification of apolipoprotein C-II levels across family members using multiple assay methods.
- Seven homozygous individuals completely lacked detectable apolipoprotein C-II and exhibited marked fasting chylomicronemia and hypertriglyceridemia.
- Five homozygous individuals experienced recurrent attacks of pancreatitis starting as early as age six.
- Obligate heterozygotes displayed apolipoprotein C-II levels that were 30% to 50% of normal while maintaining normal plasma triglyceride levels.
Structured PICO
PPopulationRelatives of a patient with apolipoprotein C-II deficiency from an isolated population with considerable inbreeding for 140 years, including 7 homozygotes and obligate heterozygotes.
OOutcomeInheritance pattern of apolipoprotein C-II deficiency and associated clinical and biochemical phenotype
Apolipoprotein C-II deficiency is an autosomal recessive disorder that should be considered in patients with marked hypertriglyceridemia, apparent lipoprotein lipase deficiency, and pancreatitis.