Haemochromatosis

Developed in collaboration with CASA Medical.

Haemochromatosis is a hereditary disorder caused by mutations in genes related to iron regulation, most commonly C282Y mutations in the HFE gene. It leads to increased absorption of iron from the intestine that can cause iron overload and organ damage. Some gene mutations are more likely than others to cause iron overload, not all persons with (even higher risk) gene mutations develop iron overload, and other conditions, such as liver disease, alcohol excess, and a first degree relative with a history of iron overload can increase the risk.

Most people with haemochromatosis have no symptoms until they experience iron overload. It can take decades for iron overload to cause organ damage, and this progression can be delayed in women who are menstruating. If untreated, iron overload typically first leads to liver damage and then various other organs.

There is currently no recommendation for screening for cases of haemochromatosis, and most cases are found through family tracing or abnormal iron studies. Gene testing is the mainstay of diagnostic testing when suspected. Ferritin is monitored to ensure no further iron overload occurs.

The mainstay of management is venesection. Iron chelation therapy is very occasionally used if venesection cannot be tolerated.

When the condition is treated to the recommended treatment range (ferritin >50 and <100 µg/L) the prognosis is excellent. Damage due to iron overload can be more challenging to manage – hopefully with good case recognition this becomes rarer.

Pilot and controller information

Report to ME or CAA for any of the following:

• New diagnosis of haemochromatosis 

Cease flying or controller operations and report to ME or CAA if:

• Diagnosis of complications related to haemochromatosis such as liver, cardiac, thyroid, diabetes, and neurological symptoms or disease
• If ferritin goes over 1000 µg/L, iron overload symptoms are more likely, and you must be grounded until organ damage is ruled out / recovered, and your ferritin has returned to <1000 µg/L.
• Changes to treatment especially need for iron chelation therapy 

Cease flying or controller operations:

• For 24 hours for general aviation flying and ATC operations following venesection treatment
• For 48 hours for aerobatic flying

Aeromedical relevance

Effect of the condition on aviation

• Iron accumulates in the liver, heart, pituitary gland, pancreas and other tissues, causing the following possible symptoms:
• Pain, stiffness and loss of function from arthropathy
• Pain from liver disease
• Hepatic fibrosis leading to liver cirrhosis and hepatocellular cancer that can lead to pain, bleeding and death
  • Symptoms worsened by co-morbidities such as alcohol use (even modest), liver infections
• Iron overload in pancreas can lead to diabetes
• Iron overload in thyroid can cause secondary hypothyroidism
• Fatigue is a common symptom of iron overload
• Heart failure leading to conduction disorders, sinus node dysfunction, arrhythmias and possible sudden cardiac death
• Associated with generalised cognitive impairment and other neurological abnormalities
• Iron overload predisposes to some bacterial infections

Effect of the treatment on aviation

• Especially in the first 24 hours after venesection – fainting, dizziness, light-headedness and fatigue
• More rarely, venesection can lead to infection
• Iron chelation therapy can cause impaired or blurred vision, vomiting, hypotension and dizziness

Effect of aviation on the condition

• Clinical effect of relative hypoxia may be amplified in the context of anaemia due to treatment

Information required

Initial application / new cases

• Treating doctor’s report
  • Confirmed diagnosis
    • Ferritin levels at diagnosis, highest recorded, and currently.
    • If ferritin has ever been >1000 µg/L, organ involvement (especially liver cirrhosis) must be ruled out.
  • History, including ever having evidence of:
    • Arthropathy
    • Cardiomyopathy or other cardiac disease
    • Cirrhosis or other hepatic disease
    • Alcohol use concerns
    • CNS disease (including cognitive deficits)
    • Endocrine disease including diabetes; hypopituitarism, hypogonadism, or hypothyroidism
    • Kidney disease
    • Polycythaemia or other condition requiring multiple transfusions
  • Clinical status
  • Management
  • Treatment (types and dates of treatment)
    • Frequency of venesection
    • Side effects experienced
  • Follow-up plan
  • Ongoing treatment
  • Prognosis and Prognostic factors
• All related specialist’s reports
• All related investigation reports (including any historical Ferritin levels over time)

Renewal

• Ferritin
  • If <100 µg/L, and no history of iron overload and no symptoms, nil further required
  • Confirm treatment does not include iron chelating agents
  • If above not met – report as above from treating doctor

ME aeromedical decision guide

If ALL the criteria in the table below are met, the pilot or controller meets the acceptable criteria for certification by the ME. Evidence supporting the MEs decision (for example reports and results) must be available to CAA. 

ME must confirm	Tick
No symptoms
Treating physician finds condition is stable on current management and no changes recommended
Ferritin <100 µg/L
No evidence of complications of disease Arthropathy, liver disease, cardiac disease, diabetes, or neurological disease
Management includes venesection
Management does not include chelation therapy
ME considers safe to certify

An AMC referral to CAA Av Med team is required if the pilot’s or controller’s condition does not meet all the above criteria and they consent to their condition being considered under flexibility to the CAR 67 rules.

ME letters

Haemochromatosis medical certificate letter [DOCX 22 KB]

Haemochromatosis 020 operational restrictions letter [DOCX 28 KB]