Vitamin E Deficiency Clinical Presentation

Updated: Sep 30, 2016
  • Author: Gary E Caplan, MD, MPH, FACOEM; Chief Editor: George T Griffing, MD  more...
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Patients with vitamin E deficiency may show signs and symptoms of hyporeflexia that progress to ataxia, including limitations in upward gaze.

Patients may present with profound muscle weakness and visual-field constriction.

Patients with severe, prolonged vitamin E deficiency may develop complete blindness, cardiac arrhythmia, and dementia.



Neurologic findings follow a pattern of progression that can be divided into early and late stages, as follows: [3, 19]

  • Early findings include hyporeflexia, decreased proprioception, decreased vibratory sense, distal muscle weakness, nyctalopia (night blindness), and normal cognition.

  • With continued deficiency, neurologic symptoms progress and patients can develop truncal and limb ataxia, as well as diffuse muscle weakness. [20] Further eye problems may develop, including limited upward-gaze nystagmus and dissociated nystagmus.

  • Late manifestations include areflexia, loss of proprioception and vibratory sense, dysphagia and dysarthria, cardiac arrhythmias, ophthalmoplegia, and possible blindness. Cognition may be affected in later stages, and dementia can occur.

By contrast, patients with abetalipoproteinemia tend to have a predominance of eye problems, including decline in visual fields and pigmented retinopathy. Children with cholestatic disorders and patients with isolated vitamin E deficiency almost never develop retinopathy. Patients with cholestatic liver disease have a high incidence of behavioral and personality disorders.

Results of certain tests, such as finger-to-nose and rapid, alternating movement tests, are notably affected in vitamin E deficiency. After treatment, patients' ability to perform such tests may remain somewhat impaired but should show some improvement.



Absorption of vitamin E depends on normal pancreatic biliary function, biliary secretion, micelle formation, and penetration across intestinal membranes. Interference with any of these processes could result in a deficiency state. Cystic fibrosis, abetalipoproteinemia, chronic cholestatic hepatobiliary disease, short-bowel syndrome, and isolated vitamin E deficiency syndrome are all potential causes of a deficiency state. [2, 21, 22] These conditions are characterized as follows:

  • Cystic fibrosis [23] - This disease causes failure to secrete sufficient pancreatic enzymes, which leads to steatorrhea. If measured, vitamin E levels are low; neurologic complications rarely are reported.

  • Abetalipoproteinemia - This is a rare genetic, autosomal-recessive, inborn error of lipoprotein production and transport. Infants present with steatorrhea from the time of birth. Patients have pigmented retinopathy and progressive ataxia, and they develop acanthosis of red blood cells in the first decade of life.

  • Chronic cholestatic hepatobiliary disease [3] - Profound deficits in infants as young as 2 years may result from this condition. Decreased bile flow and micelle formation lead to malabsorption of vitamin E. Neurologic findings are less frequent in adult patients with cholestasis secondary to cirrhosis.

  • Short-bowel syndrome - This may develop from intestinal pseudo-obstruction, surgical resection, or mesenteric vascular thrombosis. Only after 10-20 years of malabsorption do neurologic symptoms become clinically apparent.

  • Isolated vitamin E deficiency syndrome - Developing in the absence of fat malabsorption, this syndrome is caused by an autosomal-recessive genetic disorder involving chromosome arm 8q. Neurologic findings develop within the first decade of life, and no clinical findings distinguish deficiency from ataxia and movement disorders. Vitamin replacement can significantly influence the outcome; therefore, screening for the deficiency is beneficial for patients with movement disorders or neuropathies that are of unknown cause.

Intramuscular administration of vitamin E is necessary when vitamin E deficiency occurs because of a low concentration of bile salts in the lumen of the small intestine; in such cases, patients are unable to absorb an oral preparation.

Vitamin E deficiency usually is reversible in the early stages, but it can have severe complications if allowed to progress.

As a vitamin E deficiency becomes more advanced, the patient's response to therapy will become more limited. It is therefore necessary for patients who are at risk for a deficiency to undergo a thorough neurologic examination, as well as periodic testing of serum vitamin E levels. [4]