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Pediatric familial type III hyperlipoproteinemia
Insights
Familial type III hyperlipoproteinemia is rare in children, but early diagnosis is crucial. This study highlights two adolescents diagnosed with this condition, emphasizing the need for pediatric consideration in at-risk families.
Area of Science:
- Lipidology
- Genetics
- Pediatrics
Background:
- Familial type III hyperlipoproteinemia is typically diagnosed in adulthood.
- Pediatric cases are exceptionally rare, with only four previously reported.
- This disorder is characterized by abnormal very low-density lipoproteins (VLDL).
Observation:
- Two adolescents, a 16-year-old female (S.E.) and a 21-year-old male (C.H.), were diagnosed with type III hyperlipoproteinemia.
- Both presented with characteristic features, including palmar xanthomas in C.H. at age 16.
- Laboratory findings revealed beta-migrating VLDL (beta-VLDL) with a density less than 1.006 g/mL.
Findings:
- The probands had a strong family history of hyperlipoproteinemia, including type III and type IV.
- S.E.'s family had multiple affected members across generations.
- C.H.'s family also exhibited a history of type III and type IV hyperlipoproteinemia.
Implications:
- The findings underscore the importance of considering type III hyperlipoproteinemia in the pediatric population.
- Early diagnosis in children can facilitate timely management and potentially prevent long-term complications.
- Genetic screening and awareness in families with a history of hyperlipoproteinemia are vital for early detection in children.
Abstract:
Familial type III hyperlipoproteinemia is almost always first diagnosed in adults; the two 16-yr-old probands with type III in this report represent only the fifth and sixth children reported with the disorder. S.E., a 16-yr-old female, and C.H., a 21-yr-old male, (with palmar xanthomas at age 16) had beta-migrating abnormal very low density lipoproteins (beta-VLDL), density less than 1.006. S.E.'s brother (age 21) and mother (age 57) had type III; her grandmother had beta-VLDL and elevated triglycerides, and a maternal uncle had type IV hyperlipoproteinemia. C.H.'s father had type III; a sister and paternal aunt had type IV hyperlipoproteinemia. It is important to consider the diagnosis of type III hyperlipoproteinemia in the pediatric age group, particularly in children from families with type III hyperlipoproteinemia.