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Severe polyarterial involvement in a 16-year-old with homozygous familial hypercholesterolaemia: a case report.

Severe polyarterial involvement in a 16-year-old with homozygous familial hypercholesterolaemia: a case report.

期刊: Eur Heart J Case Rep 日期: 2026-01-01 PMID: 41993942 DOI: 10.1093/ehjcr/ytag227 浏览: 38
作者: Benabdellah Malak, Mesfioui Mohammed Bachir, El Ouartassi Hajar, El Boussaadani Badre, Raissuni Zainab
Malak, B., Bachir, M.M., Hajar, E.O., Badre, E.B., & Zainab, R. (2026). Severe polyarterial involvement in a 16-year-old with homozygous familial hypercholesterolaemia: a case report.. Eur Heart J Case Rep. https://doi.org/10.1093/ehjcr/ytag227
Malak B, Bachir MM, Hajar EO, Badre EB, Zainab R. Severe polyarterial involvement in a 16-year-old with homozygous familial hypercholesterolaemia: a case report.. Eur Heart J Case Rep. 2026; doi: 10.1093/ehjcr/ytag227
Malak B, Bachir MM, Hajar EO, et al. Severe polyarterial involvement in a 16-year-old with homozygous familial hypercholesterolaemia: a case report.[J]. Eur Heart J Case Rep. 2026. DOI: 10.1093/ehjcr/ytag227.
@article{malak2026,
  author = {Benabdellah Malak and Mesfioui Mohammed Bachir and El Ouartassi Hajar and El Boussaadani Badre and Raissuni Zainab},
  title = {Severe polyarterial involvement in a 16-year-old with homozygous familial hypercholesterolaemia: a case report.},
  journal = {Eur Heart J Case Rep},
  year = {2026},
  doi = {10.1093/ehjcr/ytag227},
  note = {PMID: 41993942},
}
TY  - JOUR
AU  - Benabdellah Malak
AU  - Mesfioui Mohammed Bachir
AU  - El Ouartassi Hajar
AU  - El Boussaadani Badre
AU  - Raissuni Zainab
TI  - Severe polyarterial involvement in a 16-year-old with homozygous familial hypercholesterolaemia: a case report.
T2  - Eur Heart J Case Rep
PY  - 2026
DO  - 10.1093/ehjcr/ytag227
AN  - PMID:41993942
ER  - 

摘要

Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disorder characterized by an elevated plasma concentration of low-density lipoprotein cholesterol (LDL-C) starting at birth and a significantly increased risk of premature atherosclerotic cardiovascular disease. We report the case of a 16-year-old female patient, with no known consanguinity, presented to our cardiology department for anginal chest pain on exertion associated with headaches. She presented with characteristic morphological features of FH. Her lipid profile revealed extremely high LDL-C levels (706 mg/dL) and such extensive arterial and cutaneous involvement. This case underscores the importance of recognizing xanthomas and their association with an increased risk of coronary atherosclerosis.

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