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Updated: Sep 23, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Interventional treatment of multiple vascular involvement in young male with heterozygous familial
J C Lubanda1, S Simek, A Linhart
12nd Department of Internal Medicine, 1st Faculty of Medicine, Charles University, General Teaching Hospital, Prague, Czech Republic. lubanda@mail.cz
Insights
A young man with familial hypercholesterolemia and heavy smoking experienced premature atherosclerosis and acute myocardial infarction. Interventional treatments were successful, but he later died suddenly, highlighting the severe risks of combined risk factors.
Area of Science:
- Cardiology
- Vascular Medicine
- Genetics
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL cholesterol and premature atherosclerosis.
- Excessive tobacco use is a major risk factor for cardiovascular disease.
- Acute myocardial infarction (MI) can be the first sign of premature atherosclerosis in young adults.
Observation:
- A 31-year-old man with heterozygous FH and heavy smoking presented with acute MI.
- Initial percutaneous transluminal coronary angioplasty (PTCA) of the marginal artery was successful, but LAD recanalization failed.
- Significant left internal carotid artery stenosis and left subclavian artery occlusion were found, precluding LIMA bypass.
- A second PTCA of the LAD and PTA of the subclavian artery were successful.
Findings:
- Interventional methods effectively treated multiple atherosclerotic lesions, providing symptom relief.
- Combined lipid-lowering therapy significantly reduced plasma cholesterol.
- Despite successful interventions, the patient died suddenly two years after his initial MI.
Implications:
- This case underscores the synergistic risk of FH and tobacco use in premature cardiovascular disease.
- Acute physical exercise may act as a trigger for acute coronary events in susceptible individuals.
- Aggressive management of multiple risk factors is crucial for patients with FH and premature atherosclerosis.
Abstract:
We report a case of 31 year old man with heterozygous familial hypercholesterolemia and excessive tobacco use leading to acute myocardial infarction as the first manifestation of premature atherosclerosis. The patvent was treated by primary PTCA of occluded first marginal artery and at this time an attempt of recanalisation of occluded LAD was unsuccessful. The patient was referred for mini coronary bypass graft of the LIMA to LAD. During evaluation of carotid arteries we found a significant stenosis of the left internal carotid artery and occlusion of the left subclavian artery which made the use of LIMA unsuitable. Therefore, another attempt of PTCA of the occluded LAD was performed, this time with success. Hence PTA of the occluded subclavian artery was performed with good result. The patient was treated with the standard therapy of CAD and combined lipid lowering agents with significant reduction of plasma cholesterol. However, 2 years after the first MI, he suddenly died after swimming at the age of 31. In this patient the risk of premature CAD was increased by the presence of another powerful risk factor--the excessive tobacco use. Acute physical exercise probably acted as a trigger of acute coronary events at the time of both MI. Interventional methods were very effective in the treatment of multiple atherosclerotic lesions in this patient and provided significant relief of symptoms. Treatment of heterozygous FH is briefly discussed in this article.
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