What Homozygous Familial Hypercholesterolemia Produces and the Will to Withstand Its Complications




Before the story of his life started, the patient’s father died in an accidental fire, never witnessing the fire burning in his 1-month-old son, an affliction called homozygous familial hypercholesterolemia. Luckily, this hero had a brave mother, who never left her only son despite extreme poverty.


The patient gradually developed disabling exertional angina during school years. Echocardiography revealed mild aortic stenosis. An exercise tolerance test was performed because of progressive chest pain and showed 3-mm ST-segment depression. Three-vessel coronary artery disease was found on coronary angiography, and the patient underwent coronary artery bypass graft surgery. The following vessels were harvested: the left internal mammary artery for the left anterior descending coronary artery, the right internal mammary artery for the right coronary artery, and a saphenous vein graft for the obtuse marginal branch.


However, this was not end of the story. The patient was found to have a low-density lipoprotein level of 500 mg/dl, resistant to maximal drug therapy. Liver transplantation was hampered by the lack of blood group–matched donors.


Dyspnea on exertion with easy fatigability became manifest 8 years later. Severe aortic stenosis and calcification (valve area <1 cm 2 ) was the main finding on echocardiography. Thus, aortic valve replacement with metallic prosthesis was accomplished, and warfarin therapy was started.


Because of recent left-sided weakness, carotid angiography was performed, and right carotid artery stenting was accomplished because of 90% narrowing.


A blood group–matched donor was found, and he called for liver transplantation. Unfortunately, the saphenous vein graft was found to have critical stenosis on pretransplantation workup. Therefore, saphenous vein graft stenting was done, and transplantation was postponed again.


Urethral stricture was a new annoyance, due to repeated Foley catheterizations, which required urethroplasty for the relief of the disturbing and unpleasant symptoms.


Luckily, the patient underwent successful liver transplantation at the age of 25 years. Ten months afterward, he was hospitalized once more because of pulmonary edema. Acute severe mitral regurgitation in combination with severe prosthetic aortic valve panis formation were the main findings of echocardiography. Aortic and mitral valve replacements were performed after initial supportive treatments. The patient’s operation was complicated by a cerebrovascular accident, and he became conscious after 4 days of coma.


I will never forget his bright eyes, dazzling smile, and happy face once he came to my office with his fiancée. A young, cheerful gentleman with a transplanted liver, 2 vascular stents, 2 prosthetic cardiac valves, a low-density lipoprotein level of 70 mg/dl, coronary bypass grafts, and newly developed positive hepatitis B antigen was standing in front of me, with a bag full of pills. He is really an incredible hero, probably one of the thousand legends of pain and resistance with whom we are confronted in our daily practice.

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Dec 16, 2016 | Posted by in CARDIOLOGY | Comments Off on What Homozygous Familial Hypercholesterolemia Produces and the Will to Withstand Its Complications

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