Difficulties in managing patients with hepatolenticular degeneration

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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. 

About the authors

Tat'yana N. Proskokova

Far Eastern State Medical University, Ministry of Health of the Russian Federation, Khabarovsk

Author for correspondence.
Email: center@test.ru
Russian Federation

Nadezhda V. Vyalova

Far Eastern State Medical University, Ministry of Health of the Russian Federation, Khabarovsk

Email: center@test.ru
Russian Federation

Natal'ya B. Serdyuk

Far Eastern State Medical University, Ministry of Health of the Russian Federation, Khabarovsk

Email: center@test.ru
Russian Federation

Aleksandr M. Khelimsky

Far Eastern State Medical University, Ministry of Health of the Russian Federation, Khabarovsk

Email: center@test.ru
Russian Federation

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Copyright (c) 2018 Proskokova T.N., Vyalova N.V., Serdyuk N.B., Khelimsky A.M.

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