Treatment of homozygous familial hypercholesterolaemia with portacaval shunt

Thirteen patients with homozygous familial hypercholesterolaemia (HFH) were treated with portacaval shunt operations. One patient died postoperatively and the others were followed for 2–6 years. The main beneficial effects were regression of xanthomas and sustained falls in serum total and LDL cholesterol levels of about 18% in the majority of cases, sustained rises in HDL cholesterol values in most patients, and the long period of survival after the operation without further deaths or serious cardiac complications. Other favourable effects were improvement of angina pectoris, ejection systolic múrmurs or electrocardiograms in some cases. Growth and development of patients after the operation were normal and there were no clinical or biochemical signs of liver damage or portal-systemic encephalopathy. Apart from the patient who died, negative or adverse effects of the operation included shunt closure causing portal hypertension and bleeding varices in 1 case, unsatisfactory clinical responses in half the patients, small or unsustained falls in serum total cholesterol in one third of cases, and failure of total cholesterol to fall below 12.0 mmol/1 in any patient. Enlargement of the spleen appeared to be an invariable consequence of the operation and possible reasons for this are discussed. Finally the place of portacaval shunts in the management of HFH is reviewed.