JOURNAL ARTICLE

[Severe hypocupremia and familial amyloid polyneuropathy: à propos of a case]

María Teresa Fernández López, Cristina Guillín Amarelle, José Antonio Mato Mato
Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral 2019 December 3
31793325

INTRODUCTION: we report a patient with transthyretin familial amyloid polyneuropathy (TTR-FAP) and severe hypocupremia.

CASE REPORT: a 79-year-old male with TTR-FAP and severe malnutrition. Laboratory tests showed low serum copper (Cu) and ceruloplasmin levels, as well as low urinary Cu levels. The patient reported neither digestive symptoms nor previous gastrointestinal surgery. Liver function tests, iron metabolism, hemoglobin, leukocytes and zinc were normal.

DISCUSSION: Cu is a trace element. It is part of the cuproenzymes involved in several physiological functions. Hypocupremia can be related to genetic or acquired etiologies, including low intake, bariatric surgery, increased losses, etc. Primary clinical manifestations include hematological (anemia and leukopenia) and neurological (myelopathy, peripheral neuropathy) features. Treatment is empirical. In severe cases it may be initiated with endovenose administration, followed by oral supplementation.

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