The most common cause is lack of exposure to sunlight, usually when the diet is deficient in vitamin D, but certain disorders can also cause the deficiency.
Without enough vitamin D, muscle and bone weakness and pain occur.
Infants develop rickets: The skull is soft, bones grow abnormally, and infants are slow to sit and crawl.
Blood tests and sometimes x-rays are done to confirm the diagnosis.
From birth, breastfed infants should be given vitamin D supplements because breast milk contains little vitamin D.
Vitamin D supplements taken by mouth or given by injection usually result in a complete recovery.
Two forms of vitamin D are important for nutrition:
Vitamin D2 (ergocalciferol): This form is synthesized from plants and yeast precursors. It is also the form usually used in high-dose supplements.
Vitamin D3 (cholecalciferol): This form is the most active form of vitamin D. It is formed in the skin when the skin is exposed to direct sunlight. The most common food source is fortified foods, mainly cereals and dairy products. Vitamin D is also present in fish liver oils, fatty fish, egg yolks, and liver.
(See also Overview of Vitamins.)
Human breast milk contains only small amounts of vitamin D.
Vitamin D is stored mainly in the liver. Vitamin D2 and D3 are not active in the body. Both forms must be processed (metabolized) by the liver and kidneys into an active form called active vitamin D or calcitriol. This active form promotes absorption of calcium and phosphorus from the intestine. Calcium and phosphorus, which are minerals, are incorporated into bones to make them strong and dense (a process called mineralization). Thus, calcitriol is necessary for the formation, growth, and repair of bones.
Requirements for vitamin D increase as people age.
Vitamin D, like vitamins A, E, and K, is a fat-soluble vitamin, which dissolves in fat and is best absorbed when eaten with some fat.
Vitamin D deficiency is common worldwide. Most commonly, it occurs when the skin is not exposed to enough sunlight. Natural (unfortified) foods alone rarely provide enough vitamin D to prevent deficiency. Foods that are fortified with vitamin D and supplements of vitamin D can help prevent deficiency when exposure to sunlight is inadequate.
In vitamin D deficiency, the body absorbs less calcium and phosphate. Because not enough calcium and phosphate are available to maintain healthy bones, vitamin D deficiency may result in a bone disorder called rickets in children or osteomalacia in adults. In osteomalacia, the body does not incorporate enough calcium and other minerals into bones, resulting in weak bones.
In a pregnant woman, vitamin D deficiency causes the deficiency in the fetus, and the newborn has a high risk of developing rickets. Occasionally, the deficiency is severe enough to cause osteomalacia in the woman. Vitamin D deficiency makes osteoporosis worse.
Vitamin D deficiency results in a low calcium level in blood. To try to increase the low calcium level, the body may produce more parathyroid hormone. However, as the parathyroid hormone level becomes high (a condition called hyperparathyroidism), the hormone draws calcium out of bone to increase the calcium level in blood. Parathyroid hormone also causes more phosphate to be eliminated in urine. Both calcium and phosphate are necessary to maintain healthy bones. As a result, bones are weakened.
The most common cause of vitamin D deficiency is
Thus, vitamin D deficiency occurs mainly among people who do not spend much time outdoors: older people and people who live in an institution such as a nursing home. The deficiency can also occur in the winter at northern and southern latitudes or in people who keep their bodies covered, such as Muslim women.
Because breast milk contains only small amounts of vitamin D, breastfed infants who are not exposed to enough sunlight are at risk of the deficiency and rickets.
Some experts recommend that the arms and legs or the face, arms, and hands should be exposed to direct sunlight for 5 to 15 minutes at least 3 times a week, but some people, such as those who have darker skin or are older, may need more exposure to sunlight. However, many dermatologists do not recommend increased sunlight exposure because risk of skin cancer is increased.
Vitamin D deficiency usually occurs in people who are not exposed to sunlight and who do not consume enough vitamin D in their diet.
When the skin is exposed to enough sunlight, the body usually forms enough vitamin D. However, certain circumstances increase the risk of vitamin D deficiency even when there is exposure to sunlight:
The skin forms less vitamin D in response to sunlight in certain groups of people. They include people with darker skin (particularly blacks), older people, and people who use sunscreen.
The body may not be able to absorb enough vitamin D from foods. In malabsorption disorders, people cannot absorb fats normally. They also cannot absorb vitamin D because it is a fat-soluble vitamin, which is normally absorbed with fats in the small intestine. Less vitamin D may be absorbed from the intestine as people age.
The body may not be able to convert vitamin D to an active form. Certain kidney and liver disorders and several rare hereditary disorders (such as hypophosphatemic rickets) interfere with this conversion, as do certain drugs, such as some antiseizure drugs and rifampin.
Vitamin D deficiency can cause muscle aches, weakness, and bone pain in people of all ages.
Muscle spasms (tetany) may be the first sign of rickets in infants. They are caused by a low calcium level in the blood in people with severe vitamin D deficiency. If pregnant women have vitamin D deficiency, their newborn may have spasms. The spasms may affect the face, hands, and feet. If the spasms are severe, they may cause seizures.
In young infants who have rickets, the entire skull may be soft.
Older infants may be slow to sit and crawl, and the spaces between the skull bones (fontanelles) may be slow to close.
For older children and adolescents, walking is painful. Severe vitamin D deficiency can cause bowlegs or knock-knees. The pelvic bones may flatten, narrowing the birth canal in adolescent girls.
In adults, the bones, particularly the spine, pelvis, and leg bones, weaken. Affected areas may be painful to touch, and fractures may occur.
Doctors suspect vitamin D deficiency in the following people:
Blood tests to measure vitamin D can confirm the deficiency. Levels of calcium and phosphate are measured. Levels of other substances may be measured to rule out other causes of decreased bone density.
X-rays may also be taken. The characteristic changes in bone may be seen on x-rays before symptoms become noticeable.
The diagnosis of rickets or osteomalacia due to vitamin D deficiency is based on symptoms, the characteristic appearance of bones on x-rays, and a low level of vitamin D in the blood.
Many people need to take vitamin D supplements. Getting enough exposure to sunlight may be difficult, especially because the skin also needs to be protected from sun damage. Natural foods rarely contains enough vitamin D to compensate for lack of sunlight.
Vitamin D supplements are particularly important for people who are at risk (such as people who are older, housebound, or living in long-term care facilities). To prevent deficiency, older people should usually take 800 units of vitamin D daily in supplements. Higher doses are rarely needed.
Commercially available liquid milk (but not cheese or yogurt) is fortified with vitamin D in the United States and Canada. Many other countries do not fortify milk with vitamin D. Breakfast cereals may also be fortified.
In breastfed infants, starting vitamin D supplements at birth is particularly important because breast milk contains little vitamin D. Supplements are given until infants are 6 months old, when they begin to eat a more varied diet. For formula-fed infants, commercial infant formulas contain enough vitamin D.
Treatment of vitamin D deficiency involves taking high doses of vitamin D, usually daily by mouth, for about 1 month. After 1 month, the dose is usually reduced gradually to the usual recommended dose.
If muscle spasms are present or calcium is thought to be deficient, calcium supplements are also given. If phosphate is deficient, phosphate supplements are given. Usually, this treatment leads to a complete recovery.
People with a chronic liver or kidney disorder may require special formulations of vitamin D supplements.
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