Hypophosphatasia
What is Hypophosphatasia?
Hypophosphatasia is a rare genetic disorder that affects how your bones and teeth develop. Your body needs an enzyme called alkaline phosphatase to build strong bones and teeth. People with hypophosphatasia have low levels of this enzyme, which leads to weak bones and other health problems.
The condition happens when you inherit mutations in a gene called ALPL. This gene gives your body instructions to make tissue-nonspecific alkaline phosphatase. When the gene does not work correctly, your bones cannot form properly. The severity varies widely, from life-threatening forms in babies to mild dental problems in adults.
Hypophosphatasia can appear at any age. Some babies are born with severe symptoms, while others do not notice problems until adulthood. The adult form often causes bone pain, fractures, and early tooth loss. Early diagnosis helps people manage symptoms and protect their bone health.
Symptoms
- Bone pain, especially in the feet, legs, and hips
- Frequent fractures or broken bones from minor injuries
- Early loss of baby teeth or adult teeth, often with the roots still attached
- Bowed legs or other bone deformities
- Short stature or slow growth in children
- Muscle weakness or difficulty walking
- Joint pain and stiffness
- Dental problems including tooth decay and abscesses
- Soft skull bones in infants
- Calcium deposits in soft tissues
Some people with mild forms have few symptoms and may only discover the condition during routine blood work. Others experience symptoms in childhood that improve with age, only to return later in life.
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Causes and risk factors
Hypophosphatasia is caused by mutations in the ALPL gene. This gene tells your body how to make an enzyme called tissue-nonspecific alkaline phosphatase. When the gene has errors, your body produces little or no functional enzyme. Without enough alkaline phosphatase, minerals like calcium and phosphorus cannot properly deposit in bones and teeth.
The condition is inherited, meaning it passes from parents to children through genes. Severe forms typically require two mutated gene copies, one from each parent. Milder forms may occur with just one mutated copy. Family history is the main risk factor, though new mutations can occur without any family history. Unlike many health conditions, lifestyle factors do not cause or prevent hypophosphatasia.
How it's diagnosed
Doctors diagnose hypophosphatasia using a combination of blood tests, symptoms, and family history. The key finding is a low level of alkaline phosphatase in the blood. Rite Aid's preventive health panel includes alkaline phosphatase testing, which can identify unexpectedly low levels that warrant further investigation. Most labs expect alkaline phosphatase to be high or normal, so low levels often stand out.
When low alkaline phosphatase is found, doctors look for elevated substrates like phosphoethanolamine and pyridoxal-5-phosphate, which confirm the diagnosis. X-rays showing bone abnormalities and genetic testing to identify ALPL mutations provide additional confirmation. Early detection through routine blood testing helps people access treatment sooner and prevent complications. Rite Aid makes alkaline phosphatase screening accessible with convenient Quest Diagnostics locations nationwide.
Treatment options
- Enzyme replacement therapy with asfotase alfa for moderate to severe forms
- Pain management with anti-inflammatory medications and physical therapy
- Calcium and vitamin D supplements to support bone health
- Dental care to prevent tooth loss and treat abscesses early
- Avoidance of bisphosphonates, which can worsen the condition
- Physical therapy to maintain muscle strength and mobility
- Low-impact exercise like swimming to protect bones while staying active
- Regular monitoring with blood tests and bone density scans
- Genetic counseling for family planning decisions
- Orthopedic surgery to correct severe bone deformities when needed
Concerned about Hypophosphatasia? Get tested at Rite Aid.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
The first signs depend on the age when symptoms appear. In babies, soft skull bones and breathing problems may occur shortly after birth. Children often lose their baby teeth early, sometimes before age 5, with the roots still intact. Adults typically notice bone pain in the feet and legs, stress fractures, or unexpectedly low alkaline phosphatase on routine blood work.
Yes, a blood test measuring alkaline phosphatase levels is the first step in diagnosis. People with hypophosphatasia have unusually low alkaline phosphatase, which shows up on standard blood panels. Rite Aid's preventive health testing includes alkaline phosphatase measurement. If levels are low, additional specialized tests measuring substrates like phosphoethanolamine help confirm the diagnosis.
No, these are different conditions with different causes. Osteoporosis involves loss of bone density due to aging, hormones, or lifestyle factors. Hypophosphatasia is a genetic disorder where bones form improperly from birth due to low alkaline phosphatase. Both cause weak bones and fractures, but they require different treatments. Bisphosphonates help osteoporosis but actually worsen hypophosphatasia.
Treatment depends on severity. Enzyme replacement therapy with asfotase alfa helps people with moderate to severe forms by replacing the missing alkaline phosphatase. Supportive care includes pain management, physical therapy, dental care, and calcium and vitamin D supplements. People must avoid bisphosphonates, which can harm bones in this condition. Regular monitoring with blood tests helps track disease activity.
Adults do not develop hypophosphatasia, they are born with it. However, symptoms can appear for the first time in adulthood. Some people have mild genetic mutations that cause few problems in childhood but lead to bone pain, fractures, and dental issues in their 30s, 40s, or 50s. Blood tests showing low alkaline phosphatase often reveal the condition in adults.
Normal alkaline phosphatase ranges vary by age and lab, but adult levels typically range from 44 to 147 units per liter. In hypophosphatasia, levels fall well below the normal range. Unusually low alkaline phosphatase requires investigation, especially with bone or dental symptoms. Your doctor will interpret your specific results based on your age, symptoms, and other test findings.
Yes, hypophosphatasia is an inherited genetic condition caused by mutations in the ALPL gene. Severe forms usually require inheriting one mutated gene from each parent. Milder forms may develop with just one mutated gene. If you have hypophosphatasia, genetic counseling can help you understand the chances of passing it to your children.
Teeth fall out because alkaline phosphatase is needed to form cementum, the tissue that anchors teeth to the jawbone. Without enough enzyme, cementum does not form properly. Teeth become loose and fall out, often with the roots still attached. This can happen to baby teeth in early childhood or adult teeth later in life.
Diet and supplements alone cannot cure hypophosphatasia, but they support bone health. Calcium and vitamin D supplements help your body use available minerals for bone strength. Adequate protein intake supports muscle and bone health. However, enzyme replacement therapy is the only treatment that addresses the root cause by replacing the missing alkaline phosphatase.
Testing frequency depends on your symptoms and treatment. Most doctors recommend alkaline phosphatase testing every 3 to 6 months to monitor disease activity. Additional tests like bone density scans may be done yearly. Rite Aid's subscription includes 2 tests per year, which can help track your alkaline phosphatase levels over time and catch changes early.