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Health condition

Bone disease, from osteoporosis to rare metabolic and genetic conditions.

A hub guide covering osteoporosis, osteomalacia, Paget\'s, osteogenesis imperfecta, fibrous dysplasia, hypophosphatasia and other UK-relevant bone conditions.

A radiographer guides a patient onto the bed of an advanced 3 Tesla MRI scanner in a London imaging suite

Why trust this guide

  • 01

    Editorial team

    Written by our editorial team from the UK sources listed on each page.

  • 02

    Sourced from guidance

    Checked against NICE, ROS, NOGG, BOA and peer-reviewed sources you can see at the end.

  • 03

    Current for 2026

    Reflects modern UK practice including denosumab, romosozumab, burosumab and asfotase alfa.

Key facts

Bone disease at a glance.

The essentials, in plain English: what falls under bone disease, and how modern UK care approaches it.

  • What it covers

    A hub guide to metabolic, genetic and structural bone disease, from osteoporosis to Paget's, OI and rare skeletal dysplasias.

  • Osteoporosis

    The most common metabolic bone disease. Fracture risk falls sharply with bisphosphonates, denosumab and anabolic agents.

  • Osteomalacia

    Soft, poorly mineralised bone caused by vitamin D deficiency, phosphate wasting (including XLH) or renal osteodystrophy.

  • Paget's disease

    Focal disorganised remodelling of skull, spine, pelvis or long bones. A single 5 mg IV zoledronate infusion often gives durable remission.

  • Genetic bone disease

    Osteogenesis imperfecta, fibrous dysplasia, osteopetrosis and hypophosphatasia need specialist metabolic-bone centres.

  • Assessment

    Bone profile bloods, DEXA, X-ray and MRI, and, where needed, transiliac biopsy with tetracycline labelling.

Why this guide matters

One skeleton, many diseases.

Bone disease is often labelled as osteoporosis and left there. In reality, the picture is far broader, and each strand needs its own plan.

  • Metabolic bone disease is common

    Osteoporosis, osteomalacia and hyperparathyroidism sit behind most fragility fractures and unexplained bone pain.

  • Rare bone disease is treatable

    Paget's, OI, XLH, fibrous dysplasia and hypophosphatasia all now have targeted therapies through specialist centres.

  • Structure matters as much as density

    DEXA density is only part of the story - trabecular bone score, imaging and biopsy fill in the microarchitecture.

How the diagnosis is made

From first fracture to a clear plan.

The steps a UK GP, rheumatologist or metabolic-bone specialist will normally follow to work out which bone disease you have and why.

  1. 01

    Assessing

    History and fracture review

    Fragility fractures, height loss, bone pain, deformity, family history and steroid or endocrine risk factors.

  2. 02

    Assessing

    Bone-profile bloods

    Calcium, phosphate, ALP, magnesium, vitamin D, PTH, LFTs, renal function, urinary calcium, urate and protein electrophoresis with serum free light chains.

  3. 03

    Assessing

    Bone turnover markers

    CTX and P1NP help gauge remodelling rate, monitor bisphosphonate or denosumab response and detect Paget's disease.

  4. 04

    Confirming

    DEXA and trabecular bone score

    Bone density at the hip and spine, plus TBS for microarchitecture. FRAX, QFracture and Garvan translate this into fracture risk.

  5. 05

    Confirming

    Imaging - X-ray, CT, MRI

    Architecture, focal lesions, insufficiency fractures and vertebral collapse. MRI shows marrow oedema in transient osteoporosis and CRPS.

  6. 06

    Confirming

    Nuclear bone scan and PET-CT

    Whole-body assessment for Paget's, metastatic disease, occult fractures and multifocal fibrous dysplasia.

  7. 07

    Preparing

    Genetics and bone biopsy

    Skeletal-dysplasia and OI panels where suspected. Transiliac biopsy with tetracycline labelling is reserved for specialist centres.

Typical timeline: a first visit to a settled plan in weeks, not months.

Conditions covered

The bone diseases we see most.

A working map of the field, from the very common through to the rare - with links to deeper condition and treatment pages where they exist.

  • Osteoporosis

    The most common metabolic bone disease. See our full guide at /conditions/osteoporosis/ and treatment pathway at /treatments/osteoporosis-clinic/.

  • Osteomalacia and rickets

    Soft bone from vitamin D deficiency, phosphate wasting or renal osteodystrophy. Includes X-linked hypophosphataemia (XLH, FGF23).

  • Paget's disease of bone

    Focal disorganised remodelling of skull, spine, pelvis and long bones with pain, deformity, hearing loss and, rarely, high-output cardiac failure.

  • Primary hyperparathyroidism

    PTH-driven bone resorption, with osteitis fibrosa cystica and Brown tumours at the severe end of the spectrum.

  • Osteogenesis imperfecta

    Brittle bone disease caused by COL1A1/2 or IFITM5 mutations, with blue sclerae, hearing loss and dentinogenesis imperfecta.

  • Fibrous dysplasia

    Focal or polyostotic fibro-osseous lesions, sometimes with McCune-Albright syndrome (GNAS) and endocrine features.

  • Osteopetrosis

    Marble bone disease (ARO, CLCN7, TCIRG1) with paradoxically fragile dense bone, cranial nerve compression and marrow failure.

  • Hypophosphatasia

    ALPL deficiency treated with enzyme replacement (asfotase alfa) in paediatric-onset disease through specialist centres.

  • Osteonecrosis and AVN

    Interruption of bone blood supply causing joint collapse. See /conditions/avascular-necrosis/ for the dedicated guide.

  • Hereditary exostoses and enchondromas

    Multiple hereditary exostoses, Ollier disease and Maffucci syndrome sit within the wider skeletal-dysplasia group.

  • Bone tumours and metastases

    Primary bone tumours and metastatic bone disease - see /conditions/bone-cancer/ and /conditions/bone-metastasis/.

  • Myeloma bone disease

    Diffuse osteolytic disease from plasma-cell myeloma. See our /conditions/blood-cancer-myeloma/ guide.

  • Paediatric conditions

    SCFE, Perthes, DDH, club foot, Blount's, Osgood-Schlatter, Sever's and Sinding-Larsen-Johansson disease.

  • Transient osteoporosis

    Transient osteoporosis of the hip and regional migratory osteoporosis - painful, self-limiting marrow-oedema syndromes.

  • Algodystrophy / CRPS

    Complex regional pain syndrome with disproportionate pain, autonomic and bone changes after minor injury or surgery.

Symptoms

What bone disease actually looks like.

The classic clinical clues across the spectrum, from the silent bone loss of osteoporosis to the deformity of Paget\'s and OI.

  • Fragility fractures

    Wrist, hip, vertebral or humeral fractures from a standing-height fall - the hallmark of osteoporosis.

  • Bone pain and deformity

    Deep, aching pain, bowing of long bones or a warm skull suggest Paget's, osteomalacia or fibrous dysplasia.

  • Height loss and kyphosis

    Losing more than 4 cm of height, or a curved upper back, points to vertebral fractures needing DEXA and imaging.

  • Rickets and bowed legs (children)

    Bowed legs, wrist widening, delayed walking and a rachitic rosary in vitamin D deficiency or XLH.

  • Blue sclera and brittle bones

    Recurrent fractures with blue sclerae, hearing loss or dentinogenesis imperfecta point towards osteogenesis imperfecta.

  • Hearing loss and headache

    Skull-base Paget's or fibrous dysplasia can cause conductive hearing loss, tinnitus and headache.

  • Muscle weakness and waddling gait

    Proximal myopathy with a waddling gait is classic for osteomalacia and severe vitamin D deficiency.

  • Red flag - back pain with weight loss

    New back pain with weight loss, night pain or neurology needs urgent imaging to exclude myeloma or metastatic disease.

Treatment

How bone disease is treated in the UK.

Every plan starts with calcium, vitamin D and fall prevention.

  • Calcium and vitamin D

    The foundation of every bone-protection plan. Replete deficiency before starting antiresorptives to avoid hypocalcaemia.

  • Oral bisphosphonates

    Alendronate or risedronate weekly. First-line for most osteoporosis and for Paget's where IV is not tolerated.

  • IV zoledronate

    A yearly 5 mg infusion for osteoporosis, and a single dose for Paget's that often gives years of remission.

  • Denosumab (Prolia)

    A six-monthly subcutaneous injection. Never stop abruptly - rebound vertebral fractures follow, so plan a bisphosphonate handover.

  • Teriparatide and abaloparatide

    Daily PTH-analogue injections for severe osteoporosis. Build new bone over 18 to 24 months, then consolidate with an antiresorptive.

  • Romosozumab (Evenity)

    A 12-month monthly injection that builds and preserves bone. Reserved for very high fracture risk with cardiovascular safety review.

  • Burosumab (Crysvita)

    FGF23-blocking monoclonal for X-linked hypophosphataemia. Replaces phosphate and calcitriol in adults and children with XLH.

  • Asfotase alfa

    Enzyme replacement for paediatric-onset hypophosphatasia (ALPL). Delivered through specialist metabolic-bone centres.

Multidisciplinary care

Where the best UK bone care happens.

Complex bone disease is a team sport. Endocrinology, metabolic bone, rheumatology, orthopaedics, paediatric metabolic services, genetics, physiotherapy and orthotics sit alongside specialist UK centres in Sheffield, Oxford, UCLH, Great Ormond Street and Birmingham Children\'s. The Royal Osteoporosis Society, Brittle Bone Society and Bone UK support patients and families through diagnosis and long-term care, and every hospital site should offer a fracture liaison service after a fragility fracture.

What this guide is based on

The sources behind every claim on this page.

UK national guidance and specialist-society standards, current at the time of last review.

Key references

Guidelines and standards we relied on.

A quiet reminder

This guide is for information, not medical advice.

Your GP or specialist knows your history and can tell you which parts apply to you. If in doubt, get seen.

  • NICE. Osteoporosis: assessing the risk of fragility fracture (CG146) and TA suites for denosumab, romosozumab and teriparatide.

  • Royal Osteoporosis Society (ROS) and National Osteoporosis Guideline Group (NOGG) - UK clinical guidelines.

  • British Orthopaedic Association and BOAST standards for fragility-fracture care and fracture liaison services.

  • European Society for Paediatric Endocrinology and international consensus on osteogenesis imperfecta, XLH and hypophosphatasia.

Red flags

When bone disease needs urgent attention.

Most bone conditions are managed in an outpatient setting. These are the situations that aren\'t, and where a specialist opinion is needed quickly.

  • New back pain with weight loss

    Suspect myeloma or metastatic bone disease. Urgent imaging, serum FLC, protein electrophoresis and specialist review.

  • Atypical femoral fracture

    Thigh or groin pain on long-term bisphosphonates or denosumab warrants urgent femoral X-ray and specialist advice.

  • Osteonecrosis of the jaw

    Non-healing jaw pain, exposed bone or a loose tooth on antiresorptives needs oral and maxillofacial referral.

  • Denosumab rebound risk

    Never stop denosumab without a plan. Missed doses cause multiple vertebral fractures within months - always hand over to a bisphosphonate.

  • Hypocalcaemia after IV therapy

    Correct vitamin D and calcium before zoledronate or denosumab. Post-dose tetany, cramps or paraesthesia need urgent bloods.

  • Paget's complications

    Rising ALP with new pain, deformity or a soft-tissue mass - exclude the 1% risk of pagetic osteosarcoma.

  • Child with recurrent fractures

    Consider OI, hypophosphatasia and non-accidental injury. Refer to a paediatric metabolic-bone centre.

  • Rapid loss of height

    Losing more than 4 cm of height, or a new thoracic kyphosis, needs spine imaging for vertebral fractures.

  • Steroid-induced bone loss

    Anyone on 7.5 mg prednisolone or more for three months needs DEXA and, usually, a bisphosphonate.

Living with it

A treatable spectrum, with real levers.

Four things that make the biggest difference day to day: movement, nutrition, fall-proofing and joined-up follow-up through a fracture liaison service.

A quiet reminder

Consistency beats intensity, every time.

Small, steady habits, kept up for years, do more for your skeleton than a heroic month that doesn\'t last.

  1. 01 Movement

    Load the skeleton

    Weight-bearing and progressive resistance exercise, two or three times a week, maintains bone and cuts falls.

  2. 02 Nutrition

    Calcium, vitamin D, protein

    Aim for 1,000 mg calcium and 800 to 1,000 IU vitamin D daily, with enough protein to protect muscle and bone.

  3. 03 Falls

    Fall-proof the home

    Loose rugs, poor lighting and sedating medicines drive fractures. A community falls review is time well spent.

  4. 04 Follow-up

    Fracture liaison service

    After any fragility fracture, ask for FLS referral. It halves the risk of the next one.

Frequently asked

Everything we get asked about bone disease.

Quick answers on diagnosis, Paget\'s, XLH, osteogenesis imperfecta and where to be seen.

  • What counts as bone disease?

    It is an umbrella term for conditions that weaken, soften, thicken or distort bone. It covers metabolic disorders like osteoporosis and osteomalacia, focal disease like Paget's and fibrous dysplasia, genetic conditions like osteogenesis imperfecta and osteopetrosis, and secondary bone disease from cancer or hyperparathyroidism.

  • How is bone disease diagnosed?

    Assessment starts with a full bone profile - calcium, phosphate, ALP, vitamin D, PTH, magnesium, LFTs and renal function - plus urinary calcium, urate and protein electrophoresis. DEXA and imaging come next. Genetics and transiliac bone biopsy with tetracycline labelling are reserved for specialist metabolic-bone centres.

  • Is Paget's disease dangerous?

    Most people with Paget's do very well. Bone pain, deformity and hearing loss are the common issues, and a single 5 mg IV zoledronate infusion often gives durable remission. The 1% risk of pagetic osteosarcoma means new pain or a soft-tissue mass in a pagetic bone should always be reviewed urgently.

  • What is X-linked hypophosphataemia (XLH)?

    XLH is a genetic form of osteomalacia driven by excess FGF23, which wastes phosphate through the kidneys. Historical treatment used oral phosphate and calcitriol. Burosumab (Crysvita), a monoclonal that blocks FGF23, is now standard for children and eligible adults with XLH.

  • Can osteogenesis imperfecta be treated?

    Yes. Care is coordinated through specialist OI centres and combines bisphosphonates, careful orthopaedic surgery, physiotherapy, dental care and hearing support. Newer therapies such as setrusumab are in clinical trials. Sillence typing and COL1A1/2 or IFITM5 genetics guide the plan.

  • Where should I be seen for rare bone disease?

    UK specialist metabolic-bone centres include Sheffield, Oxford, UCLH, Birmingham Children's and Great Ormond Street. Charities like the Royal Osteoporosis Society and Brittle Bone Society support patients and families through diagnosis and long-term care.

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