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Educational draft · awaiting clinical reviewUse Rapid for revision, not patient-care decisions. Check current national and local guidance and the BNF or BNFC before acting.

Haemochromatosis arthropathy

Rheumatology · UK scope · Sources checked 27 Aug 2026 · Clinical review pending

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Decompensated iron overload or a septic hot joint

Syncope, chest pain, arrhythmia, heart failure, decompensated cirrhosis, acute liver deterioration or severe hyperglycaemia requires urgent medical care; a feverish acutely swollen joint still requires septic-arthritis assessment despite chondrocalcinosis.

Action: Admit through the appropriate acute pathway, stabilise cardiac, hepatic, endocrine or infectious complications, obtain cultures and joint fluid before antibiotics when safe, and involve hepatology, haematology, cardiology, endocrinology or rheumatology without delaying treatment for a genetic result.

Synopsis

Recognise the characteristic hand and crystal-associated joint pattern as a clue to systemic iron overload, confirm hereditary haemochromatosis correctly, and treat organ risk and persistent joint disease as related but distinct problems.

  • Think haemochromatosis when osteoarthritis-like pain involves the second and third MCP joints, especially with hook osteophytes, wrist or knee chondrocalcinosis, ankle disease or early hip replacement.
  • The first biochemical pair is fasting or repeat transferrin saturation and ferritin: transferrin saturation detects inappropriate circulating iron availability, whereas ferritin is an acute-phase and liver-injury marker as well as an iron-store marker.
  • In an HFE C282Y homozygote, raised transferrin saturation plus ferritin above sex-appropriate thresholds can establish provisional iron overload; other genotypes generally need specialist evidence of hepatic iron on MRI or biopsy.
  • First-line disease-modifying treatment for confirmed iron overload in a suitable non-anaemic patient is therapeutic venesection, usually 400 to 500 mL weekly or fortnightly during induction.
  • The EASL induction ferritin target is about 50 micrograms/L without pushing lower; maintenance is usually 50 to 100 micrograms/L with individualised venesection intervals.
  • Venesection prevents or improves important systemic outcomes but established haemochromatosis arthropathy often persists, so joint-specific osteoarthritis and CPP management must continue.
  • A new hot joint still needs aspiration for Gram stain, culture and crystal analysis; chondrocalcinosis is not proof that current inflammation is sterile.

Key red flags

Exertional syncope, sustained palpitations, chest pain, breathlessness, oedema or heart failure can reflect iron-related cardiomyopathy or arrhythmia and requires urgent cardiac assessment.

Jaundice, ascites, encephalopathy, gastrointestinal bleeding or coagulopathy suggests advanced liver disease and needs same-day hospital evaluation.

Cirrhosis or advanced fibrosis confers hepatocellular-carcinoma risk even after iron depletion and requires an organised surveillance pathway.

Polyuria, polydipsia, weight loss, vomiting or altered consciousness may represent severe diabetes or ketoacidosis and is not simply fatigue from iron overload.

Fever with a hot swollen joint requires aspiration and culture; haemochromatosis-associated CPP disease does not exclude concurrent septic arthritis.

New hypogonadal symptoms, osteoporosis, pathological fracture, skin ulceration or rapidly progressive weakness suggests clinically important extra-articular organ involvement.

Ferritin above 1,000 micrograms/L, abnormal liver tests, hepatomegaly or substantial alcohol exposure increases the probability of advanced fibrosis and needs prompt specialist staging.

Investigation priorities

01
First-line transferrin saturation and ferritinFirst stepFirst line

Identify biochemical iron loading while distinguishing circulating iron excess from nonspecific hyperferritinaemia.

Management branches

First diagnostic priorityConfirm iron loading, not ferritin alone

Characteristic MCP or CPPD-pattern arthropathy, systemic features or a family history raises suspicion.

  1. Request transferrin saturation and ferritin together, with FBC, liver profile and CRP or clinical inflammation context; repeat discordant borderline results.
  2. If biochemical loading is present, arrange HFE testing with consent and ancestry-aware interpretation and review alcohol, metabolic liver disease, transfusions and haematological causes.
  3. Refer non-C282Y-homozygous or otherwise complex overload for hepatic MRI, fibrosis assessment and specialist diagnosis rather than inferring hereditary disease from ferritin.
Systemic stagingDefine organ harm before routine joint care

Hereditary haemochromatosis or convincing iron overload is confirmed.

  1. Assess fibrosis risk, liver synthetic function, glucose, cardiac symptoms and ECG, endocrine and bone features and medicines or comorbidity affecting venesection.
  2. Escalate ferritin above 1,000 micrograms/L, hepatomegaly, abnormal liver tests, cardiac symptoms or decompensation promptly to the relevant specialist.
  3. Place advanced fibrosis or cirrhosis into a continuing hepatocellular-carcinoma surveillance pathway even after iron depletion.

Key medicines

Therapeutic venesectionIn induction, remove about 400 to 500 mL of blood weekly or every two weeks, individualised to size and tolerance, until ferritin is about 50 micrograms/L but not lower. In maintenance, repeat often every 1 to 4 months to keep ferritin around 50 to 100 micrograms/L.This is a supervised procedure, not a self-directed blood-donation schedule. Check haemoglobin before every session, reduce frequency below 120 g/L and pause below 110 g/L under the treating pathway. Adjust for frailty, low body mass, hypotension or cardiac disease. Venesection is commonly paused or reduced during pregnancy unless specialist benefit outweighs maternal-fetal risk.
Diclofenac 1.16% gelApply 2 to 4 g over the painful hand or other superficial joint three or four times daily for the shortest useful period; wash the hands afterwards unless they are the treatment site.Avoid broken skin, NSAID allergy and unreviewed concurrent NSAIDs. Systemic renal, gastrointestinal and cardiovascular harm remains possible with high-area or prolonged use. Avoid in the third pregnancy trimester and obtain medicine-specific advice earlier in pregnancy or during breastfeeding.
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Sources and review status7 sources · checked 27 Aug 2026 · clinical review pending+
Sources

Sources and review status

National guidance is shown before implementation-dependent detail. Typical adult dose examples remain subject to patient factors, contraindications and the live BNF or specialist protocol. Source check completed 27 Aug 2026; clinical approval remains outstanding.

  • EASL clinical practice guidelines on haemochromatosisDiagnostic thresholds, genotype interpretation, MRI confirmation, fibrosis staging, venesection targets and surveillance.
  • BSG and BASL best practice: venesection treatment in haemochromatosisCurrent practical UK induction, haemoglobin safety, maintenance and patient-centred venesection guidance.
  • NHS Genomics Education: patient with suspected hereditary haemochromatosisGenomic testing eligibility, biochemical thresholds and differential diagnosis of iron overload.
  • NICE NG226: osteoarthritis assessment and managementExercise, topical NSAID and joint-replacement principles for persistent structural symptoms.
  • Kenalog intra-articular and intramuscular injection UK product informationJoint-size dosing, asepsis, infection, glucose and reproductive cautions.
  • Voltarol 1.16% gel UK product informationTopical diclofenac dosing, contraindications and reproductive safety.
  • EULAR 2025 classification criteria for haemochromatosis arthropathyCurrent characteristic clinical and imaging features of haemochromatosis arthropathy.

Editorial contact: Doctor’s Passport editorial team. Source-check date is separate from clinical approval. Report a content problem ·

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Authoring stateRapid draftClinical stateAwaiting reviewJurisdictionUnited Kingdom