Vitamin E Deficiency
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Vitamin E deficiency is a rare condition caused by low levels of
vitamin E Vitamin E is a group of eight compounds related in molecular structure that includes four tocopherols and four tocotrienols. The tocopherols function as fat-soluble antioxidants which may help protect cell membranes from reactive oxygen speci ...
that may result from
malabsorption Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal (GI) tract. Impairment can be of single or multiple nutrients depending on the abnormality. This may lead to malnutrition and a varie ...
disorders (such as
abetalipoproteinemia Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal absorption of fat and ...
,
cystic fibrosis Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of Sputum, mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably ''Staphy ...
, or
Crohn's disease Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain, diarrhea, fever, abdominal distension, and weight loss. Complications outside of the ...
), or impaired
lipid Lipids are a broad group of organic compounds which include fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E and K), monoglycerides, diglycerides, phospholipids, and others. The functions of lipids include storing ...
transport. As a potent
antioxidant Antioxidants are Chemical compound, compounds that inhibit Redox, oxidation, a chemical reaction that can produce Radical (chemistry), free radicals. Autoxidation leads to degradation of organic compounds, including living matter. Antioxidants ...
, vitamin E protects cell membranes from oxidative damage, and its deficiency primarily affects tissues with high
fatty acid In chemistry, in particular in biochemistry, a fatty acid is a carboxylic acid with an aliphatic chain, which is either saturated and unsaturated compounds#Organic chemistry, saturated or unsaturated. Most naturally occurring fatty acids have an ...
content, especially the
nervous system In biology, the nervous system is the complex system, highly complex part of an animal that coordinates its behavior, actions and sense, sensory information by transmitting action potential, signals to and from different parts of its body. Th ...
. Clinically, patients may present with spinocerebellar ataxia,
polyneuropathy Polyneuropathy () is damage or disease affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, and burning pain. It usually begins in the hands and feet and may prog ...
, muscle weakness, and
retinopathy Retinopathy is any damage to the retina of the eyes, which may cause vision impairment. Retinopathy often refers to retinal vascular disease, or damage to the retina caused by abnormal blood flow. Age-related macular degeneration is technically in ...
. Diagnosis is confirmed through low serum vitamin E levels, and treatment involves dietary supplementation with vitamin E and (if possible) addressing the underlying cause of malabsorption. The term 'vitamin E' commonly refers to α-tocopherol, and so α-tocopherol deficiency refers to the same syndrome.


Signs and symptoms

Vitamin E deficiency is typically seen only in the setting of severe and prolonged illnesses causing
steatorrhea Steatorrhea (or steatorrhoea) is the presence of excess fat in Human feces, feces. Stools may be bulky and difficult to flush, have a pale and oily appearance, and can be especially foul-smelling. An oily anal leakage or some level of fecal incon ...
or other forms of
malabsorption Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal (GI) tract. Impairment can be of single or multiple nutrients depending on the abnormality. This may lead to malnutrition and a varie ...
. Other patients may have had
bariatric surgery Bariatric surgery (also known as metabolic surgery or weight loss surgery) is a surgical procedure used to manage obesity and obesity-related conditions. Long term weight loss with bariatric surgery may be achieved through alteration of gut ho ...
or surgical removal of the small intestine. Many of these patients also have deficiencies of other fat-soluble vitamins, and an isolated deficiency of vitamin E is rare. As a result, it may be difficult to definitively identify vitamin E as the cause of any of these symptoms until they are well-progressed. Typically, the first identifiable sign of vitamin E deficiency is areflexia, or the loss of deep tendon reflexes, like the
patellar reflex The patellar reflex, also called the knee reflex or knee-jerk, is a stretch reflex which tests the L2, L3, and L4 segments of the spinal cord. Many animals, most significantly humans, have been seen to have the patellar reflex, including dogs, cat ...
. The usual progression is then to ataxic gait (which continues to progressively worsen) and then to a loss of dorsal column sensations (position and vibration). The onset and progression of symptoms is slow, often taking years to be recognized. Signs of vitamin E deficiency include the following: * Neuromuscular problems – such as spinocerebellar ataxia and
myopathies In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. ''Myopathy'' means muscle disease (Greek language, Greek : myo- ''muscle'' + patheia ''pathos, -pathy'' : ''suffering''). This meaning implies t ...
. * Neurological problems – may include
dysarthria Dysarthria is a speech sound disorder resulting from neurological injury of the motor component of the motor–speech system and is characterized by poor articulation of phonemes. It is a condition in which problems effectively occur with the ...
, absence of deep tendon reflexes, loss of the ability to sense vibration and detect where body parts are in three-dimensional space, and positive Babinski sign. *
Hemolytic anemia Hemolytic anemia or haemolytic anaemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), either in the blood vessels (intravascular hemolysis) or elsewhere in the human body (extravascular). This most commonl ...
– due to oxidative damage to red blood cells. Typically only seen in children with either
cystic fibrosis Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of Sputum, mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably ''Staphy ...
or long-term
cholestasis Cholestasis is a condition where the flow of bile from the liver to the duodenum is impaired. The two basic distinctions are: * obstructive type of cholestasis, where there is a mechanical blockage in the duct system that can occur from a gallston ...
. *
Retinopathy Retinopathy is any damage to the retina of the eyes, which may cause vision impairment. Retinopathy often refers to retinal vascular disease, or damage to the retina caused by abnormal blood flow. Age-related macular degeneration is technically in ...
and ophthalmoplegia. * Impairment of the
immune response An immune response is a physiological reaction which occurs within an organism in the context of inflammation for the purpose of defending against exogenous factors. These include a wide variety of different toxins, viruses, intra- and extracellula ...
* Skeletal muscle
myopathy In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. ''Myopathy'' means muscle disease ( Greek : myo- ''muscle'' + patheia '' -pathy'' : ''suffering''). This meaning implies that the primary defec ...


Causes

Vitamin E deficiency is rare. There are no records of it from a simple lack of vitamin E in a person's diet, but it can arise from physiological abnormalities. It occurs in the people in the following situations: * Premature, very low birth weight infants – birth weights less than 1500 grams (3.3 pounds). * Isolated vitamin E deficiency or 'ataxia with isolated with vitamin E deficiency' is an inheritable deficiency of vitamin E caused by mutations in the gene for the tocopherol (vitamin E) transfer protein. These patients are the only ones who are unlikely to have other nutrient deficiencies. Because their condition is characterized by a deficiency in cellular transport of the vitamin, they may require supplements at much higher dosages than other patients with vitamin E deficiency. * Fat malabsorption – Some dietary fat is needed to absorb vitamin E from the gastrointestinal tract. Anyone diagnosed with
cystic fibrosis Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of Sputum, mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably ''Staphy ...
, individuals who have had part or all of their stomach removed or who have had a gastric bypass, and individuals with malabsorptive problems such as
Crohn's disease Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain, diarrhea, fever, abdominal distension, and weight loss. Complications outside of the ...
,
liver disease Liver disease, or hepatic disease, is any of many diseases of the liver. If long-lasting it is termed chronic liver disease. Although the diseases differ in detail, liver diseases often have features in common. Liver diseases File:Ground gla ...
or
exocrine pancreatic insufficiency Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas. EPI can occur in humans and is prevalent in many conditions such as cystic fibrosis, Shwach ...
may not absorb fat (people who cannot absorb fat often pass greasy stools or have chronic diarrhea and bloating).
Abetalipoproteinemia Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal absorption of fat and ...
is a rare inherited disorder of fat metabolism that results in poor absorption of dietary fat and vitamin E. The vitamin E deficiency associated with this disease causes problems such as poor transmission of nerve impulses and muscle weakness. *
Bariatric surgery Bariatric surgery (also known as metabolic surgery or weight loss surgery) is a surgical procedure used to manage obesity and obesity-related conditions. Long term weight loss with bariatric surgery may be achieved through alteration of gut ho ...
- Surgery as a treatment for obesity can lead to vitamin deficiencies. Long-term follow-up reported a 16.5% prevalence of vitamin E deficiency. There are guidelines for multivitamin supplementation, but adherence rates are reported to be less than 20%.


Diagnosis

The U.S.
Institute of Medicine The National Academy of Medicine (NAM), known as the Institute of Medicine (IoM) until 2015, is an American nonprofit, non-governmental organization. The National Academy of Medicine is a part of the National Academies of Sciences, Engineerin ...
defines deficiency as a serum concentration of less than 12 μmol/L. The symptoms can be enough for a diagnosis to be formed.


Treatment

Treatment is oral vitamin E supplementation.


See also

* Familial isolated vitamin E deficiency *
Abetalipoproteinemia Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal absorption of fat and ...
*
Tocopherol Tocopherols (; TCP) are a class of organic compounds comprising various methylated phenols, many of which have vitamin E activity. Because the vitamin activity was first identified in 1936 from a dietary fertility factor in rats, it was named ''t ...


References


External links

{{Nutritional pathology Vitamin deficiencies