(Mentions CMT) Neuromuscular manifestations in hereditary haemochromatosis

[Guest guest]

Neuromuscular manifestations in hereditary haemochromatosis.

Wouthuis SF, van Deursen CT, Te Lintelo MP, Rozeman CA, Beekman R.

Department of Neurology, Atrium Medical Centre, PO Box 4446, 6401 CX, Heerlen,

The Netherlands.

J Neurol. 2010 Apr 1

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.

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.