Objective: We present a case with two disorders, hereditary hemochromatosis (HH) and Restless Legs Syndrome (RLS), each related to the two ends of the spectrum of iron metabolism, to discuss the clinical presentation of each condition and management conundrums.

Background: HH is an autosomal recessive disorder of iron metabolism that causes excessive absorption of iron from the digestive tract leading to iron overload and end organ damage. Treatment involves repeated phlebotomies to remove the excess iron. RLS is characterized by leg paresthesia associated with an urge to move the legs after a period of rest or inactivity in the evening. The pathophysiology of RLS is not fully understood but is thought to be due to low iron concentration in the brain.

Method: We followed a 60-year-old male with HH homozygous for the C282Y HFE gene mutation complicated by end organ damage, who developed severe RLS associated with periodic limb movement disorder after repeated phlebotomy when his iron levels dropped to normal levels. There is no prior history of RLS or a family history of RLS.

Results: Our patient had a ferritin level of >9000 ng/mL prior to undergoing therapeutic phlebotomy. He developed severe RLS when his ferritin level dropped to 57 ng/mL. His RLS symptoms did not respond to dopamine agonists (pramipexole, rotigotine patch), gabapentin, codeine or its combinations. Although phlebotomies were discontinued, his ferritin level further dropped to 18 ng/mL due to gastrointestinal bleed which further aggravated the underlying RLS. At this point, due to the severity of his RLS, a decision was made to start a short course of oral iron therapy with close monitoring of his iron status. As his ferritin level increased, his RLS symptoms responded well to a combination of rotigotine patch and gabapentin.

Conclusion: HH and RLS can coexist in the same patient and close monitoring for RLS may be needed during therapeutic phlebotomy. RLS can be resistant to standard medical therapy and a short course of iron may be needed to help relieve symptoms. More studies would be needed to better understand the pathogenesis of RLS and its relationship to iron.

References: [1] Wijemanne S, Jankovic J. Restless legs syndrome: clinical presentation diagnosis and treatment. Sleep Med 2015;16(6):678-90. [2] Shaughnessy P, Lee J, O’Keeffe ST. Restless legs syndrome in patients with hereditary hemochromatosis. Neurology 2005;64(12):2158.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/restless-legs-syndrome-in-a-patient-with-hereditary-hemochromatosis/