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[Homozygous familial hypercholesterolemia. Cardiovascular findings in two patients (author's transl)]
Insights
Familial hypercholesterolemia in adolescents often presents with skin xanthomata and arterial plaques. This study details the progression of these cardiovascular changes over long-term observation.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Dermatology
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol levels.
- Adolescent FH patients often exhibit xanthomata and arterial atheromatous plaques.
- The precise sequence and clinical manifestations of these changes are not well-understood.
Observation:
- Two adolescent patients with homozygous FH were observed for 8 and 12 years.
- Cell biochemistry of dermal fibroblasts confirmed FH diagnosis.
- Clinical progression of xanthomata and cardiovascular pathology was monitored.
Findings:
- Detailed progression of xanthomata and atheromatous plaques in aortic and mitral valves, coronary artery origins, and proximal aorta.
- Documented the sequence of pathological changes over extended periods.
- Correlated cellular biochemistry with clinical presentation in homozygous FH.
Implications:
- Provides insight into the natural history of severe familial hypercholesterolemia during adolescence.
- Highlights the importance of early diagnosis and long-term monitoring for FH.
- Informs potential therapeutic strategies by elucidating disease progression pathways.
Abstract:
In patients dying in adolescence with familial hypercholesterolemia a combination of xanthomata of the skin and tendons, atheromatous plaques on the aortic and mitral valves, the coronary artery outlets and in the proximal aorta is frequently found. However, little is known of the sequence of these changes or their clinical equivalents. For this reason findings are described in two patients whose homozygous familial hypercholesterolemia is confirmed by studies of the cell biochemistry of the dermal fibroblasts after an observation period of eight and twelve years.