Question 1

What is hypophosphatasia?

Accepted Answer

Hypophosphatasia is a rare genetic disorder that prevents normal bone and tooth development. It is caused by mutations in the ALPL gene that reduce alkaline phosphatase enzyme activity, leading to improper mineralization of bones and teeth. The Alkaline Phosphatase Serum test is the most important test for diagnosis because persistently low enzyme levels are the hallmark of this condition.

Question 2

What causes hypophosphatasia?

Accepted Answer

Hypophosphatasia is caused by mutations in the ALPL gene, which provides instructions for making the alkaline phosphatase enzyme. These genetic mutations are inherited in an autosomal recessive or autosomal dominant pattern, meaning you can inherit the condition from one or both parents. When the gene is mutated, your body produces insufficient or non-functioning alkaline phosphatase, which is essential for proper bone and tooth mineralization. Without adequate enzyme activity, calcium and phosphate cannot properly deposit in developing bones and teeth, leading to the skeletal and dental problems characteristic of this rare disorder.

Question 3

What is the best test for hypophosphatasia?

Accepted Answer

The Alkaline Phosphatase Serum test is the most important test for hypophosphatasia because it directly measures the enzyme that is deficient in this disorder. Unlike most conditions where high enzyme levels indicate disease, hypophosphatasia shows abnormally low alkaline phosphatase levels that fall below the normal range for your age. This test is essential for initial screening and diagnosis, especially when you have unexplained bone pain, dental problems, or skeletal deformities. Your doctor may also recommend genetic testing to identify the specific ALPL gene mutations and confirm the diagnosis, particularly if alkaline phosphatase levels are borderline or to determine carrier status for family planning.

Question 4

When should I get tested for hypophosphatasia?

Accepted Answer

You should get tested if you experience unexplained bone pain, fractures with minimal trauma, or premature loss of baby teeth before age 5. Testing is also important if you have a family history of hypophosphatasia or skeletal abnormalities, dental problems like severe early tooth decay, chronic muscle weakness, or bone deformities such as bowed legs or an abnormally shaped skull. Children with delayed walking or motor development combined with bone problems should be evaluated. Early diagnosis through alkaline phosphatase testing can help you access appropriate treatments and management strategies to improve quality of life.

Question 5

What are the symptoms of hypophosphatasia?

Accepted Answer

Symptoms of hypophosphatasia vary widely depending on when the condition appears and how severe it is. Infants may show poor feeding, respiratory problems, softened skull bones, and severely bowed legs or arms. Children might experience premature loss of baby teeth with the roots still attached, delayed walking, bone pain, and short stature. Adults typically have recurrent fractures, particularly stress fractures in the feet, chronic bone and joint pain, dental problems including premature tooth loss, and sometimes calcium crystal deposits in joints causing arthritis-like symptoms. Some people have very mild symptoms affecting only teeth, while others face life-threatening complications.

Question 6

Who is at risk for hypophosphatasia?

Accepted Answer

Anyone who inherits mutations in the ALPL gene from one or both parents is at risk for hypophosphatasia. The condition affects approximately 1 in 100,000 births for severe forms and 1 in 6,370 for milder forms. People with a family history of unexplained bone problems, early tooth loss, or diagnosed hypophosphatasia have increased risk. Certain populations, including Mennonites in Canada, have higher carrier rates due to founder effects. If both parents are carriers of a recessive mutation, each child has a 25% chance of developing the condition. Those with one affected parent and autosomal dominant inheritance have a 50% chance of inheriting the disorder.

Question 7

What happens if hypophosphatasia is left untreated?

Accepted Answer

Untreated hypophosphatasia can lead to progressive and serious complications depending on severity. Severe infantile forms can be life-threatening, causing respiratory failure from chest deformities and seizures from low calcium levels. In children, untreated disease results in chronic pain, progressive skeletal deformities, short stature, and complete loss of teeth. Adults may experience repeated fractures that heal poorly, chronic disabling pain, progressive mobility problems, and premature arthritis. The condition can also cause muscle weakness that affects daily activities and quality of life. Early diagnosis through alkaline phosphatase testing allows access to enzyme replacement therapy and supportive treatments that can significantly improve outcomes and prevent complications.

Question 8

Can hypophosphatasia be diagnosed with a blood test?

Accepted Answer

Yes, hypophosphatasia can be initially diagnosed with a blood test measuring alkaline phosphatase levels. The Alkaline Phosphatase Serum test reveals characteristically low enzyme activity, which is the key diagnostic finding. However, because alkaline phosphatase levels normally vary by age, your results must be compared to age-appropriate reference ranges. Blood tests may also measure vitamin B6, calcium, and phosphate levels, which can be elevated in hypophosphatasia. While blood testing provides strong evidence for diagnosis, genetic testing of the ALPL gene is typically recommended to confirm the diagnosis and identify the specific mutations, which helps predict disease severity and inheritance patterns for family members.

Question 9

How is hypophosphatasia treated?

Accepted Answer

Hypophosphatasia treatment depends on severity and may include enzyme replacement therapy with asfotase alfa, which is FDA-approved for pediatric-onset disease and significantly improves bone mineralization and respiratory function. Supportive care is essential and includes physical therapy to maintain mobility and strength, dental care to address tooth loss and decay, pain management with medications and gentle exercise, and vitamin and mineral supplementation except vitamin D which should be avoided. Orthopedic interventions may be needed for fractures and deformities. Some patients require respiratory support or feeding tubes in severe cases. Regular monitoring through blood tests and imaging helps track disease progression and treatment response. Early diagnosis and treatment can dramatically improve quality of life and prevent complications.

Question 10

How can I prevent hypophosphatasia?

Accepted Answer

Because hypophosphatasia is an inherited genetic disorder, you cannot prevent it through lifestyle changes or dietary modifications. However, genetic counseling before pregnancy can help prospective parents understand their risk if they have a family history of the condition or are known carriers of ALPL gene mutations. Prenatal testing and preimplantation genetic diagnosis are available for couples at high risk. If you have hypophosphatasia or carry the gene mutation, genetic counselors can explain inheritance patterns and help you make informed family planning decisions. Early diagnosis through newborn screening or prompt alkaline phosphatase testing when symptoms appear allows for earlier treatment intervention, which can prevent or minimize complications even though it does not prevent the underlying genetic condition.

Question 11

What can I do at home for hypophosphatasia?

Accepted Answer

At home, focus on gentle low-impact activities like swimming and walking to maintain bone strength without risking fractures. Maintain a balanced diet rich in calcium and protein but avoid vitamin D supplements unless specifically directed by your doctor, as excess vitamin D can worsen symptoms. Use assistive devices like braces or walkers if recommended to prevent falls and fractures. Practice good dental hygiene with regular brushing and professional dental care to preserve remaining teeth. Apply heat or ice for pain relief and consider working with a physical therapist who can teach you safe exercises. Join support groups for hypophosphatasia to connect with others managing the condition. Keep all medical appointments and monitor for new symptoms like unexplained pain or fractures that require immediate medical attention.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

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Question 14

When will my lab results be available?

Accepted Answer

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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

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Question 18

How can I find a lab location near me?

Accepted Answer

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Hypophosphatasia Blood Test

What is Hypophosphatasia?

What causes hypophosphatasia?

What is the best test for hypophosphatasia?

When should I get tested for hypophosphatasia?

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