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Significance of cardiac catheterization for asymptomatic patients with familial hypercholesterolemia
Atherosclerosis, 66 (1987) 171-172 Elsevier Scientific Publishers Ireland,
171 Ltd.
ATH 03982
Letter to the Editor
Significance of cardiac catheterization for asymptomatic patients with familial hypercholesterolemia A reply to the letter by Y. Lurie and N. Schoenfeld
Dear Editors,
Following our published report of a case of homozygous familial hypercholesterolemia without significant coronary artery lesions [l], Lurie and Schoenfeld have raised a very pertinent and important question with regard to the ethical aspects of subjecting an asymptomatic person for whom the results of non-invasive cardiac evaluation were entirely normal, to cardiac catheterization. We would like to take the opportunity of answering this-question. Familial hypercholesterolemia (FH) is characterized by premature coronary heart disease (CHD) [2]. The homozygous form of FH in particular is often associated with marked atherosclerotic lesions in the coronary arteries and aorta, and as a result, angina pectoris, myocardial infarction, or sudden death occur commonly in FH homozygotes between the ages of 5 and 30 years [2]. In the homozygous case that we reported, physical examination disclosed that grade III/VI systolic ejection murmur was audible over the aortic area, and that harsh vascular murmurs were also audible bilaterally over the anterior portion of the neck [l]. Echocardiographic examination showed moderate supravalvular stenosis of the aorta, which suggested the possible presence of other atherosclerotic lesions. These findings were considered to be good reasons for performing subsequent invasive examinations. Cardiac catheterization and coronary arteriography are invasive techniques associated with variCorrespondence to: Dr. Shizuya Yamashita, M.D., Second Department of Internal Medicine, Osaka University Medical School, Fukushima l-l-50, Fukushima-ku, Osaka 553, Japan.
0021-9150/87/$03.50
0 1987 Elsevier Scientific
Publishers
Ireland,
ous complications [3,4]. The overall mortality rate for coronary arteriography has been reported to be 0.14% [5]. The remarkable increase in the number of coronary arteriograms obtained in recent years has been based on the conviction that the information afforded might influence the approach to management of the disease to such a degree as to justify the risks of the procedure [5]. Even in FH heterozygotes, the incidence of CHD is very high, being 58% in males and 48% in females over 40 years of age, respectively [6]. Because of the fact that FH carries such a high risk of coronary atherosclerosis, our group has been pursuing a policy of performing, with informed consent, coronary arteriography for FH patients aged 40 years or more, who have coronary risk factors. Eight out of 15 asymptomatic FH heterozygotes (53%) examined in this way had one or more significant stenoses of the coronary arteries including two patients with triple-vessel disease [7], for whom aortocoronary bypass surgery was subsequently performed. We think that the early discovery of coronary lesions is very important and valuable, so that intensive medical and surgical treatment can be applied before the lesions develop and cause symptomatic CHD, and possible myocardial infarction. In addition, the early detection of CHD in FH patients is important for enabling clinicians to carefully manage patients at risk and apply stricter means for controlling hypercholesterolemia, including plasma exchange. These advantages of cardiac catheterization might be expected to compensate for the disadvantages. We therefore propose that coronary arteriography should be performed more positively for the Ltd.
172
limited number of FH patients who carry a very high risk of premature CHD, even if they are asymptomatic, or even if non-invasive cardiac evaluation is entirely normal. Of course, such an indication for coronary arteriography is only valid in situations where first-class equipment is available and where the angiographers are technically well experienced.
3
4
5
References 6 Yamashita, S., Ueyama, Y., Funahashi, T., Nakamura, T., Kawamoto, T., Nakajima, T., Hirobe, K., Matsuzawa, Y., Ishimura, T. and Tarui, S., A 31-year-old woman with homozygous familial hypercholesterolemia without significant lesions in the coronary arteries, Atherosclerosis, 62 (1986) 117. Goldstein, J.L. and Brown, M.S., Familial hypercholesterolemia, In: J.B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson, J.L. Goldstein and M.S. Brown (Eds.), The Metabolic
Second Department of Internal Medicine, Osaka University Medical School, Osaka (Japan)
(Received (Accepted
12 March, 13 March,
1987) 1987)
7
Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 672-712. Gensini, G.G., Coronary arteriography, In: E. Braunwald (Ed.), Heart Disease-A Textbook of Cardiovascular Medicine, Vol. I., W.B. Saunders, Philadelphia, PA, 1984, pp. 308-362. Franch, R.H., King III, S.B. and Douglas, J.S., Jr., Techof cardiac catheterization including coronary niques arteriography. In: R.B. Logue, C.E. Rackley, R.C. S&ant, E.H. Sonnenblick, A.G. Wallace and N.K. Wenger (Eds.), The Heart, McGraw-Hill, New York, 1982, pp. 1843-1880. Abrams, H.L., Complications of coronary arteriography, In: Coronary Arteriography-A Practical Approach, Medical Education and Research Inc., 1st edn., 1983, pp. 71-86. Yamashita, S., Kawamoto, T., Ueyama, Y., Funahashi, T., Hara, H., Hirobe, K., Matsuzawa, Y., Yamamoto, A. and Tarui, S., Relationship between LDL receptor activity and development of coronary heart disease in Japanese cases of heterozygous familial hypercholesterolemia, (1987) submitted for publication. Funahashi, T., Nakamura, T., Yamashita, S., Ueyama, Y., Nakajima, T., Hirobe, K., Matsuzawa, Y. and Tarui, S., Asymptomatic coronary artery disease in heterozygous familial hypercholesterolemia, (1987) submitted for publication.
Shizuya Yamashita, Tadashi Nakamura, Tohru Funahashi, Tadahisa Nakajima, Yuji Matsuzawa and Seiichiro Tarui
171 Ltd.
ATH 03982
Letter to the Editor
Significance of cardiac catheterization for asymptomatic patients with familial hypercholesterolemia A reply to the letter by Y. Lurie and N. Schoenfeld
Dear Editors,
Following our published report of a case of homozygous familial hypercholesterolemia without significant coronary artery lesions [l], Lurie and Schoenfeld have raised a very pertinent and important question with regard to the ethical aspects of subjecting an asymptomatic person for whom the results of non-invasive cardiac evaluation were entirely normal, to cardiac catheterization. We would like to take the opportunity of answering this-question. Familial hypercholesterolemia (FH) is characterized by premature coronary heart disease (CHD) [2]. The homozygous form of FH in particular is often associated with marked atherosclerotic lesions in the coronary arteries and aorta, and as a result, angina pectoris, myocardial infarction, or sudden death occur commonly in FH homozygotes between the ages of 5 and 30 years [2]. In the homozygous case that we reported, physical examination disclosed that grade III/VI systolic ejection murmur was audible over the aortic area, and that harsh vascular murmurs were also audible bilaterally over the anterior portion of the neck [l]. Echocardiographic examination showed moderate supravalvular stenosis of the aorta, which suggested the possible presence of other atherosclerotic lesions. These findings were considered to be good reasons for performing subsequent invasive examinations. Cardiac catheterization and coronary arteriography are invasive techniques associated with variCorrespondence to: Dr. Shizuya Yamashita, M.D., Second Department of Internal Medicine, Osaka University Medical School, Fukushima l-l-50, Fukushima-ku, Osaka 553, Japan.
0021-9150/87/$03.50
0 1987 Elsevier Scientific
Publishers
Ireland,
ous complications [3,4]. The overall mortality rate for coronary arteriography has been reported to be 0.14% [5]. The remarkable increase in the number of coronary arteriograms obtained in recent years has been based on the conviction that the information afforded might influence the approach to management of the disease to such a degree as to justify the risks of the procedure [5]. Even in FH heterozygotes, the incidence of CHD is very high, being 58% in males and 48% in females over 40 years of age, respectively [6]. Because of the fact that FH carries such a high risk of coronary atherosclerosis, our group has been pursuing a policy of performing, with informed consent, coronary arteriography for FH patients aged 40 years or more, who have coronary risk factors. Eight out of 15 asymptomatic FH heterozygotes (53%) examined in this way had one or more significant stenoses of the coronary arteries including two patients with triple-vessel disease [7], for whom aortocoronary bypass surgery was subsequently performed. We think that the early discovery of coronary lesions is very important and valuable, so that intensive medical and surgical treatment can be applied before the lesions develop and cause symptomatic CHD, and possible myocardial infarction. In addition, the early detection of CHD in FH patients is important for enabling clinicians to carefully manage patients at risk and apply stricter means for controlling hypercholesterolemia, including plasma exchange. These advantages of cardiac catheterization might be expected to compensate for the disadvantages. We therefore propose that coronary arteriography should be performed more positively for the Ltd.
172
limited number of FH patients who carry a very high risk of premature CHD, even if they are asymptomatic, or even if non-invasive cardiac evaluation is entirely normal. Of course, such an indication for coronary arteriography is only valid in situations where first-class equipment is available and where the angiographers are technically well experienced.
3
4
5
References 6 Yamashita, S., Ueyama, Y., Funahashi, T., Nakamura, T., Kawamoto, T., Nakajima, T., Hirobe, K., Matsuzawa, Y., Ishimura, T. and Tarui, S., A 31-year-old woman with homozygous familial hypercholesterolemia without significant lesions in the coronary arteries, Atherosclerosis, 62 (1986) 117. Goldstein, J.L. and Brown, M.S., Familial hypercholesterolemia, In: J.B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson, J.L. Goldstein and M.S. Brown (Eds.), The Metabolic
Second Department of Internal Medicine, Osaka University Medical School, Osaka (Japan)
(Received (Accepted
12 March, 13 March,
1987) 1987)
7
Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 672-712. Gensini, G.G., Coronary arteriography, In: E. Braunwald (Ed.), Heart Disease-A Textbook of Cardiovascular Medicine, Vol. I., W.B. Saunders, Philadelphia, PA, 1984, pp. 308-362. Franch, R.H., King III, S.B. and Douglas, J.S., Jr., Techof cardiac catheterization including coronary niques arteriography. In: R.B. Logue, C.E. Rackley, R.C. S&ant, E.H. Sonnenblick, A.G. Wallace and N.K. Wenger (Eds.), The Heart, McGraw-Hill, New York, 1982, pp. 1843-1880. Abrams, H.L., Complications of coronary arteriography, In: Coronary Arteriography-A Practical Approach, Medical Education and Research Inc., 1st edn., 1983, pp. 71-86. Yamashita, S., Kawamoto, T., Ueyama, Y., Funahashi, T., Hara, H., Hirobe, K., Matsuzawa, Y., Yamamoto, A. and Tarui, S., Relationship between LDL receptor activity and development of coronary heart disease in Japanese cases of heterozygous familial hypercholesterolemia, (1987) submitted for publication. Funahashi, T., Nakamura, T., Yamashita, S., Ueyama, Y., Nakajima, T., Hirobe, K., Matsuzawa, Y. and Tarui, S., Asymptomatic coronary artery disease in heterozygous familial hypercholesterolemia, (1987) submitted for publication.
Shizuya Yamashita, Tadashi Nakamura, Tohru Funahashi, Tadahisa Nakajima, Yuji Matsuzawa and Seiichiro Tarui