What Is Hypophosphatemic Osteomalacia?

J.M. Willhite

Hypophosphatemic osteomalacia is a potentially serious medical condition characterized by significant bone loss. Associated with vitamin D deficiency, hypophosphatemic osteomalacia is frequently diagnosed in the elderly and those with chronic conditions that adversely affect diet and mobility. Treatment for this form of osteomalacia involves regular supplements of vitamin D. With proper treatment, it is possible to restore osteomalacia-related bone loss. In most cases, hypophosphatemic osteomalacia may be prevented with proper diet and adequate sun exposure.

The increased risk of  frequent fractures is one of the most serious effects of hypophosphatemic osteomalacia.
The increased risk of frequent fractures is one of the most serious effects of hypophosphatemic osteomalacia.

Osteomalacia is a diagnosis most often made among adults. A phosphate deficiency, such as vitamin D, that results in bone loss in children is commonly known as rickets. Adults with hypophosphatemic osteomalacia experience a progressive softening of the bones, which leaves them vulnerable to fracture, dislocation, and muscular complications.

Cystic fibrosis, a condition which is characterized by excessive mucus in the lungs, can lead to osteomalacia.
Cystic fibrosis, a condition which is characterized by excessive mucus in the lungs, can lead to osteomalacia.

A diagnosis of hypophosphatemic osteomalacia is made with a blood test performed to measure phosphate levels. When test results indicate low phosphate levels, including calcium and vitamin D, additional testing is conducted to determine the extent of bone loss. Additional laboratory tests may also be performed to evaluate organ health, specifically a urinalysis to assess kidney function.

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A urinalysis will be performed on patients with hypophosphatemic osteomalacia to assess kidney health.
A urinalysis will be performed on patients with hypophosphatemic osteomalacia to assess kidney health.

Individuals who consume a diet deficient of vitamin D are considered at greatest risk for developing osteomalacia. Those who get inadequate sun exposure may also become symptomatic, including individuals with mobility issues that confine them to the indoors. Chronic conditions that inhibit the body’s ability to utilize vitamin D, such as liver disease, may also instigate osteomalacia-related bone loss.

An adequate amount of sun exposure may help to prevent hypophosphatemic osteomalacia.
An adequate amount of sun exposure may help to prevent hypophosphatemic osteomalacia.

Signs and symptoms of hypophosphatemic osteomalacia are oftentimes initially subtle. It is not uncommon for some people to remain asymptomatic, meaning they experience no signs at all, until significant bone loss has occurred. Individuals often experience bone discomfort that may or may not be confined to major joints, including the hips. As the condition progresses, individuals develop muscle weakness, which can impact stamina, physical activity, and mobility.

Treatment for hypophosphatemic osteomalacia is centered on establishing balanced vitamin D levels. Supplemental vitamin D may be administered intravenously or orally depending on the severity of the deficiency. Timely and appropriate treatment can restore bone loss over the short term. Individuals with chronic conditions that impair the body’s ability to utilize vitamin D may be placed on long-term therapy to inhibit progressive bone loss.

It is possible for individuals with severe hypophosphatemic osteomalacia to experience fractures and other complications. Those with pronounced bone loss may be fitted with bracing to stabilize the affected limb, such as the leg. Severe fractures resulting from significant bone loss can necessitate surgery to correct damage and prevent additional complications.

Insufficient exposure to sunlight may lead to a vitamin D deficiency.
Insufficient exposure to sunlight may lead to a vitamin D deficiency.

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