VITAMIN E DEFICIENCY: CLINICAL CHARACTERISTICS, DIAGNOSIS AND MANAGEMENT

Abstract

Vitamin E is a liposoluble vitamin with a significant antioxidant role. Its deficiency can lead to neurologic
symptoms in adults. Although lack of vitamin E intake through diet is considered rare, defects of metabolism
of lipids and/or malabsorption might result in deficiencies. Abetalipoproteinemia (ABL), homozygous
hypobetalipoproteinemia (HHBL) and ataxia with vitamin E deficiency (AVED), consist a group of the most
well-characterized neurogenetic disorders associated with vitamin E deficiency. These disorders are causally
related to genetic mutations and their clinical picture mainly consists of ataxia, sensory neuropathy,
pyramidal signs, as well as retinopathy and gastrointestinal tract symptoms. History, clinical and detailed
neurological examination, blood routine tests and genetic testing are important for their diagnosis. When
clinically suspected, early diagnosis is important, because, treatment with vitamin E supplementation could
prevent and sometimes improve neurological symptoms especially if given in the early stages of the disease.