Health condition
Hypophosphatasia in adults
Hypophosphatasia (HPP) is an inherited deficiency of alkaline phosphatase causing poorly mineralised bones and teeth - in adults it presents as stress fractures, early tooth loss and musculoskeletal pain, and the clue is a persistently low ALP.
Why trust this guide
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Editorial team
Written by our editorial team from the UK sources listed on each page.
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Sourced from guidance
Checked against current NHS and UK specialist society guidance at the time of review.
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Current for 2026
Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.
Key facts
The essentials at a glance.
Which gene and test confirm it, who should be tested in the family, and which specialist to see.
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Caused by ALPL gene variants; can be dominant or recessive - adult forms are usually milder
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The signature laboratory finding is a low alkaline phosphatase (ALP) - the opposite of most bone diseases
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Adult features: metatarsal and femoral stress fractures that heal slowly, chondrocalcinosis, early loss of adult teeth, muscle pain
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Bisphosphonates can be harmful in HPP - correct diagnosis changes treatment; enzyme replacement (asfotase alfa) exists for severe forms
Understanding the condition
What it is and what happens next.
What causes it, how it is confirmed, and the testing and specialist routes available in the UK.
What it is and how it presents
Alkaline phosphatase is usually only noticed when high, so the low readings that define HPP scroll past unremarked for years - the diagnosis is often made by the first clinician who scrolls back through old results and finds ALP persistently below range. Adults typically carry a story of foot fractures from minor stress, thigh pain from femoral pseudofractures, dental work outpacing their age, and aching joints from pyrophosphate crystal deposition, sometimes with a history of early baby-tooth loss.
Testing, surveillance and specialist care
The diagnostic sequence is elegant: confirm low ALP on repeat, check the substrates that accumulate (vitamin B6 in plasma), then sequence ALPL - which also enables family testing, since relatives may share the fracture tendency. Management in a metabolic bone clinic avoids the bisphosphonate trap, optimises dental care and considers enzyme replacement for the severely affected. NHS clinical genetics services carry some of the longest waits in the health service, often many months for a first appointment, whereas private genetic testing and a specialist review can typically be arranged within around two weeks.
Seeing a specialist
Who to see, and how quickly you can be seen.
The specialist for this condition is usually a endocrinologist at a metabolic bone service. Your GP can refer you on the NHS, or you can arrange a private consultation directly.
A quiet reminder
This guide is for information, not medical advice.
Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any emergency symptoms.
Frequently asked
Common questions about Hypophosphatasia in adults.
Quick, plain-English answers to what people ask us most.
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Can you explain what Hypophosphatasia in adults is?
Hypophosphatasia in adults describes a recognised clinical condition that a doctor can diagnose based on your symptoms, history, and any relevant tests. Its impact varies from person to person, so a proper assessment is the best way to understand your own case. Your GP or a specialist can talk you through what it means in practice.
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What causes hypophosphatasia in adults?
Hypophosphatasia in adults can develop for a number of reasons, and the exact cause often depends on individual factors such as underlying health, lifestyle, or in some cases injury. A clinician will usually take a history and may arrange tests to identify what's driving it in your case. Understanding the underlying cause helps guide the most appropriate treatment.
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How would I know if I have hypophosphatasia in adults?
The presentation of hypophosphatasia in adults differs between individuals, but it typically involves noticeable changes that prompt people to seek medical advice. Some people have mild symptoms that come and go, while others experience more persistent or severe effects. A clinical assessment is the most reliable way to confirm what's going on.
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Is hypophosphatasia in adults serious or dangerous?
Severity varies considerably, and while many cases are manageable with appropriate care, some can be more serious and need prompt attention. It's best not to self-diagnose severity, as similar symptoms can have very different underlying causes. A clinician can assess your specific situation and advise on the right next steps.
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Does hypophosphatasia in adults run in families?
There can be a hereditary element for some people, though many cases occur without any clear family link. If a close relative has been diagnosed with something similar, it's worth mentioning this to your doctor. This can help inform whether any additional monitoring or testing is worthwhile.
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Is there a cure for hypophosphatasia in adults?
Many cases can be effectively managed or improved with the right treatment, although whether it can be fully "cured" depends on the underlying cause. Early treatment generally gives the best chance of a good outcome. Your clinician can explain what's realistic to aim for in your specific case.
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What treatment options are available for hypophosphatasia in adults?
Depending on the cause and severity, treatment might involve medication, targeted therapy, monitoring, or in some cases a procedure. Most treatment plans start with the least invasive appropriate option and escalate only if needed. Your care team will personalise this based on your assessment and preferences.
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How long does hypophosphatasia in adults last?
Duration varies significantly depending on the cause, how promptly it's treated, and individual factors, so it's hard to give a single answer that applies to everyone. Some cases resolve within weeks with treatment, while others need longer-term management. Your clinician can give you a more specific timeframe once they understand your case fully.
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When would I need to see a specialist for hypophosphatasia in adults?
If first-line treatment isn't giving enough improvement, or if there are features that suggest a more complex underlying problem, a specialist referral is usually the next step. More invasive treatment is typically considered only after simpler options have been tried and haven't worked well enough. A specialist can assess whether this applies to your situation.
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How quickly can I be seen for hypophosphatasia in adults?
It's worth getting checked if things aren't improving, are getting worse, or are causing you ongoing worry or disruption. NHS routine referrals for this can take anywhere from around 20 to 45+ weeks depending on your local waiting list, while most private consultants can offer an initial appointment within about 2 weeks.