Difficulties in managing patients with hepatolenticular degeneration

Abstract

In this paper, we present some typical problems of managing patients with hepatolenticular degeneration (HLD), a severe hereditary disorder of cupper metabolism requiring permanent cupper-eliminating therapy. Special attention should be paid the following questions: choice of combined treatment with D-penicillamine (D-PAM) and zinc vs. monotherapy with either of these medications; the possibility of temporary worsening of neurologic symptoms induced by massive increase in free copper level in the blood following therapy with D-PAM; the need for special psychological support of patients and their relatives; strict adherence to a regimen prohibiting physical exercises and the need for following a special diet. Two clinical cases have been described: a fatal case of many-year compensated HLD after a physical load during a travel to the seaside, and a case of an infected foot wound in a HLD patient with the development of septicopyaemia (lower leg phlegmon and osteomyelitis of the lumbar vertebrae) following a physical activity and violation of the dietary pattern.

Keywords

• hepatolenticular degeneration, d-penicillamine
• zinc
• regimen
• diet