Journal of Neurology

, Volume 257, Issue 9, pp 1465–1472 | Cite as

Neuromuscular manifestations in hereditary haemochromatosis

  • S. F. Wouthuis
  • C. Th. B. M. van Deursen
  • M. P. te Lintelo
  • C. A. M. Rozeman
  • R. BeekmanEmail author
Original Communication


Involvement of peripheral nerves and skeletal muscles has been reported in the course of hereditary haemochromatosis (HH) but a systematic study is lacking. However, patients with HH report symptoms suggesting a possible polyneuropathy or myopathy. In this study patients with DNA proven HH were recruited from a large general teaching hospital. First, all patients were clinically examined using a structured interview and neurological exam. After reviewing these data an expert panel reached consensus about the presence of a possible neuropathy or myopathy and made recommendations for ancillary investigations (nerve conduction studies, electromyography, thermal threshold tests, laboratory tests). After a second meeting consensus was reached about the final diagnosis. Patients who had a neuropathy or myopathy of which the origin was still unclear were referred to an independent neurologist for further evaluation. Ultimately, of 46 patients included, 25 had no myopathy or neuropathy, 5 an axonal sensory motor polyneuropathy of which the cause was found (diabetes in 2, combination of diabetes and chemotherapy in 1, Charcot Marie Tooth type 2 in 1, Morbus Sjögren in 1), 9 an idiopathic axonal sensory motor polyneuropathy, 3 an idiopathic small fiber polyneuropathy and 4 a carpal tunnel syndrome. There were no cases of proven myopathy. We conclude that an idiopathic polyneuropathy was diagnosed in a relative large number of patients with HH (26%), but the causal relationship needs to be confirmed in larger (case–control) series.


Hereditary haemochromatosis Neuropathy Myopathy Neuromuscular 


Conflict of interest statement

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • S. F. Wouthuis
    • 1
  • C. Th. B. M. van Deursen
    • 3
  • M. P. te Lintelo
    • 1
  • C. A. M. Rozeman
    • 2
  • R. Beekman
    • 1
    Email author
  1. 1.Department of NeurologyAtrium Medical CentreHeerlenThe Netherlands
  2. 2.Department of NeurophysiologyAtrium Medical CentreHeerlenThe Netherlands
  3. 3.Department of Internal Medicine and GastroenterologyAtrium Medical CentreHeerlenThe Netherlands

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