What is the relationship between Hereditary Hemochromatosis, Vitamin B12 deficiency, and Subacute Combined Degeneration (SCD) of the spinal cord?

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Last updated: May 6, 2025View editorial policy

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From the Guidelines

Patients with haemochromatosis and vitamin B12 deficiency should be treated immediately with hydroxocobalamin 1 mg intramuscularly to prevent subacute cord degeneration, with the treatment regimen depending on the presence of neurological involvement. According to the British Obesity and Metabolic Surgery Society guidelines 1, for people with neurological involvement, hydroxocobalamin 1 mg intramuscularly should be administered on alternate days until there is no further improvement, then every 2 months.

Key Considerations

  • For people with no neurological involvement, hydroxocobalamin 1 mg intramuscularly three times a week for 2 weeks is recommended 1.
  • Maintenance treatment with 1 mg intramuscularly every 2–3 months lifelong is necessary after initial treatment 1.
  • It is crucial to seek urgent specialist advice from a neurologist and haematologist if there is possible neurological involvement, such as unexplained sensory and/or motor and gait symptoms 1.

Treatment Approach

  • The treatment approach should prioritize preventing subacute combined degeneration of the spinal cord, which can be achieved by immediate treatment with hydroxocobalamin 1.
  • Regular monitoring of B12 levels, complete blood count, and neurological status is essential to ensure the effectiveness of the treatment and to prevent long-term complications.

Management of Haemochromatosis

  • Haemochromatosis management should continue simultaneously with phlebotomy to reduce iron overload, as iron overload can potentially damage the gastric parietal cells that produce intrinsic factor necessary for B12 absorption 1.

From the Research

Haemochromatosis and B12 Deficiency

  • Haemochromatosis is not directly related to B12 deficiency, but B12 deficiency can cause subacute combined degeneration of the spinal cord, which may be misdiagnosed as haemochromatosis due to similar symptoms such as weakness and gait disturbance 2.
  • Vitamin B12 deficiency is a common cause of megaloblastic anemia, various neuropsychiatric symptoms, and other clinical manifestations, but it is not typically associated with haemochromatosis 3, 4.

Subacute Cord Degeneration

  • Subacute combined degeneration of the spinal cord is a condition affecting the lateral and posterior columns of the spinal cord, mainly caused by demyelination, which can be triggered by vitamin B12 deficiency 2.
  • The use of recreational nitrous oxide (N2O) can deplete vitamin B12 levels, leading to demyelination of the nervous system and subacute combined degeneration of the spinal cord 2.
  • Patients with subacute combined degeneration of the spinal cord may present with symptoms such as weakness, paraesthesia, and gait disturbance, and may have low vitamin B12 levels and abnormal MRI findings 2.

Diagnosis and Management

  • Diagnosis of vitamin B12 deficiency typically involves measurement of serum vitamin B12 levels, complete blood count, and serum methylmalonic acid levels 3, 4.
  • Management of vitamin B12 deficiency depends on the severity of the deficiency and may involve oral or intramuscular supplementation with vitamin B12 3, 4.
  • Patients with severe vitamin B12 deficiency may require more aggressive treatment, such as intramuscular therapy, and may need to be monitored for potential complications such as pseudo-thrombotic microangiopathy (TMA) 5.

References

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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