Familial Hypophosphatemia - An Overview

Introduction:

Phosphate helps several organs in the body to function correctly because it is an essential electrolyte. If an individual body has low levels of phosphate, then it is defined as hypophosphatemia. Usually, when dissolved in water, electrolytes are substances that have a natural positive or negative electrical charge. The blood of an individual contains 90 % water and various electrolytes, such as phosphate. Electrolytes in the particular body help maintain the balance between the fluids inside and outside the cells and regulate the chemical reaction.

In some cases, altered vitamin D metabolism also leads to familial hypophosphatemia. Usually, it has two forms, mild or severe, and other types, like acute or chronic. Poor phosphate absorption from the intestine or inadequate dietary supply of phosphate results in other forms of hypophosphatemia, which is the opposite function of familial hypophosphatemia. Chronic hypophosphatemia results in the formation of a disease called rickets. It is a childhood bone disease showing features like bow deformities of the legs and growth plate abnormalities, which ultimately leads to bone softening, termed osteomalacia.

In children, it can impair growth rates, resulting in the short stature of familial hypophosphatemia; there will be an inheritance through an X-linked dominant manner. Whereas autosomal dominant and recessive types of familial hypophosphatemia occur.

What Are the Effects of Phosphate on an Individual Body?

• A charged particle called phosphate contains the phosphorus mineral. Several vital functions in an individual body usually need phosphorus, which includes:

  • Phosphorus helps to build and repair the bones and teeth of an individual.
  • It helps in the function of nerves.
  • It also makes the muscles contract.

• The phosphate present in the bones of an individual has approximately 85 % of phosphorus. The remaining storage in the tissues occurs throughout an individual's body.

• The individuals will get phosphate or phosphorus from the food they eat.

• Daily, an individual can get 1000 to 2000 milligrams of phosphate from a nutritious diet. But from this intestine can absorb only 600 to 1200 milligrams of phosphorus.

• Vitamin D is essential for an individual body to absorb phosphate. One can control the phosphate levels in an individual's blood through the kidneys, which help filter out extra phosphate and eliminate it through the urine.

• If an individual has low phosphate levels, the kidney also has an additional function which helps to reabsorb the phosphate instead of filtering it.

• The phosphate level affects the calcium level in an individual's blood.

• When the blood calcium level increases, phosphate levels decrease, meaning both calcium and phosphate react in opposite directions.

• The parathyroid gland regulates calcium and phosphate levels in the blood by creating parathyroid hormones. People have a butterfly-shaped gland called the thyroid gland in their neck, with four pea-sized parathyroid glands behind it, which is also a part of the endocrine system.

How Can an Individual Differentiate the Phosphate and Phosphorus?

• A mineral in certain foods is called phosphorus. When individuals intake, the foods containing this mineral will combine with the other substances in an individual's body and form a phosphate.

• During the testing period, there will be a constant interchanging of phosphorus and phosphate compounds. But in reality, the amount of inorganic phosphate in an individual's blood is measured with the blood phosphorus/phosphate test.

What Are the Causes of Hypophosphatemia in Individuals?

Based on the mild or severe and acute or chronic types, several causes lead to hypophosphatemia in individuals. Hypophosphatemia occurs in several medical conditions, which include the following:

1. Hypophosphatemia occurs during alcohol withdrawal and in chronic alcohol use disorder conditions.

2. In a severe respiratory alkalosis state, this condition occurs (when an individual's blood does not have enough carbon dioxide).

3. It can also occur during the recovery phase of diabetes-related ketoacidosis (an acute and life-threatening complication of diabetes, mainly type 1 diabetes).

4. Severe burns stage.

5. Refeeding syndrome (when an individual receives food after prolonged starvation, a potentially fatal shift in fluids and electrolytes occurs, resulting in this type of syndrome).

Some of the factors that contribute to chronic hypophosphatemia include:

• Conditions like hyperparathyroidism, in which there is an increase in parathyroid hormone levels.

• The usage of diuretics for a more extended period also causes this condition.

• Deficiency of vitamin D.

• This condition occurs during the intoxication of Theophylline (a bronchodilator medication).

• Other types of hormonal imbalance include Cushing's syndrome.

• Electrolytic imbalances like hypomagnesemia (magnesium levels are low in the blood) and hypokalemia (potassium levels are lacking in the blood) occurs due to this condition.

• People with advanced chronic kidney disease often take phosphate binders to limit the absorption of dietary phosphate. But the long-term usage of these binders results in hypophosphatemia.

What Symptoms Are Exhibited by Individuals With Hypophosphatemia?

Based on the severity, the hypophosphatemia individuals show symptoms. In most people, there are no signs of mild hypophosphatemia. And in blood work panels, it will be an insignificant finding. But few people with mild hypophosphatemia will have generalized mild to moderate muscle weakness. In severe hypophosphatemia, symptoms include:

• Weakness in the muscle.

• Bone pain and muscle pain.

• Seizures.

• Reflexive weakness or numbness.

• Altered mental state, who experiences confusion or irritability.

• In rare situations, failure to receive treatment leads to coma and death in hypophosphatemia patients.

• Patients must go to the nearest hospitals as soon as possible if they experience severe hypophosphatemia.

How to Diagnose Hypophosphatemia?

• A simple blood test, which measures phosphate levels, is used by the healthcare provider to diagnose hypophosphatemia.

• If the blood phosphate concentration is less than 2.5 milligrams per deciliter, then that person is easily diagnosed with hypophosphatemia.

• 3 to 4.5 milligrams per deciliter in adults and 4 to 7 milligrams per deciliter in children are the normal blood phosphate levels used as a reference.

• The blood sample range will show some differences depending on the laboratory test.

How to Treat Hypophosphatemia?

• The fundamental goal in treating hypophosphatemia is to first cure the underlying cause, and then stabilize blood phosphate levels in individuals.

• A healthcare physician may propose phosphorus-rich diets to patients in order to adjust phosphate levels in the blood. Oral phosphate replacement therapy is recommended by healthcare practitioners to treat mild to moderate hypophosphatemia. In severe situations, phosphate supplementation by IV (intravenous) is advised.

Conclusion:

As phosphate is an essential electrolyte in an individual's blood, one should not think much of mild hypophosphatemia in individuals because it is a common laboratory finding. So the healthcare provider will ask the people to take a diet rich in phosphorus. People should consult their healthcare provider if they have alcohol use disorder or Cushing's syndrome, then these conditions will raise the risk of developing severe or chronic hypophosphatemia. Furthermore, any doubts concerning this illness must be confirmed by the healthcare provider to prevent hypophosphatemia.