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Treatment of homozygous familial hypercholesterolaemia with portacaval shunt
Insights
Portacaval shunt surgery for homozygous familial hypercholesterolaemia (HFH) showed benefits like xanthoma regression and cholesterol reduction. However, outcomes varied, with some patients experiencing adverse effects and limited cholesterol improvement.
Area of Science:
- Cardiovascular Surgery
- Metabolic Disorders
- Hepatology
Background:
- Homozygous familial hypercholesterolaemia (HFH) is a severe genetic disorder leading to extremely high cholesterol levels.
- Limited effective treatments exist for HFH, necessitating exploration of surgical interventions.
Purpose of the Study:
- To evaluate the efficacy and safety of portacaval shunt operations in patients with homozygous familial hypercholesterolaemia.
- To assess the long-term impact of the procedure on lipid profiles, clinical symptoms, and overall survival.
Main Methods:
- Thirteen patients with HFH underwent portacaval shunt surgery.
- Postoperative follow-up ranged from 2 to 6 years, monitoring clinical status, lipid levels, and complications.
Main Results:
- A majority of patients experienced xanthoma regression and an approximate 18% reduction in serum total and LDL cholesterol.
- Sustained increases in HDL cholesterol were observed in most patients, with prolonged survival and no further cardiac events.
- Adverse effects included shunt closure, portal hypertension, bleeding varices in one case, and unsatisfactory responses in half the patients.
Conclusions:
- Portacaval shunting can offer significant benefits for HFH patients, including lipid reduction and symptom improvement.
- The procedure carries risks and variable efficacy, with spleen enlargement as a consistent consequence.
- The role of portacaval shunts in HFH management requires careful consideration of risks and benefits.
Abstract:
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/l 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.