title: Neuromuscular manifestations in hereditary haemochromatosis.
abstract: 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.
authors.affiliation: Department of Neurology, Atrium Medical Centre, Heerlen, The Netherlands.
authors.forename: S F
authors.initials: SF
authors.lastname: Wouthuis
authors.forename: C Th B M
authors.initials: CT
authors.lastname: van Deursen
authors.forename: M P
authors.initials: MP
authors.lastname: te Lintelo
authors.forename: C A M
authors.initials: CA
authors.lastname: Rozeman
authors.forename: R
authors.initials: R
authors.lastname: Beekman
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D015331:Cohort Studies; D015897:Comorbidity; D005260:Female; D006432:Hemochromatosis / Q000151:congenital / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D009460:Neurologic Examination / Q000379:methods; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000453:epidemiology*; D011115:Polyneuropathies / Q000175:diagnosis* / Q000453:epidemiology*; D055815:Young Adult