0825 A Case of Familial Restless Legs Syndrome and Raynaud's Phenomenon

Abstract Introduction Restless legs syndrome (RLS) is a common sensory-motor disorder that frequently leads to sleep disturbances and reduced quality of life. Raynaud's phenomenon (RP) is characterized by episodes of reduced blood flow mainly to the fingers due to vasospasms, with subsequent pain and discoloration, usually triggered by cold exposure or by stress. We present an interesting case report of co-occurrence and familial transmission of RLS and RP which has not been reported previously. Report of Cases: A 64-year-old woman presented for evaluation of long-standing RLS. She had a history of RP, osteoarthritis (OA), and recurrent late pregnancy losses. The patient, and one brother and a sister had RLS and RP. She had another sister and two maternal first cousins with RLS. Her mother suffered from neither and her father and his brother both had RP. She has a daughter who also has RLS. The patient's mother was treated with Diethylstilbestrol (DES) and had five pregnancy losses. The patient also had 3 miscarriages and the patient's daughter miscarried her first pregnancy as well. The patient first experienced RLS symptoms at the age of 12 and has been treated with several medications since then, most recently clonazepam. Since she was taken off clonazepam, she experienced a worsening of RLS and was subsequently started on Pregabalin up to 300 mg at bedtime but without significant relief. She was then started on pramipexole, titrated up to 0.375 mg which resulted in significant improvement of RLS symptoms. Her RP symptoms were infrequent, occurring every few months and not bothersome. She did not report rheumatological complaints other than chronic OA from lifelong sports. Conclusion This case report suggests a possible shared genetic abnormality in the transmission of both RLS and RP in this family. This genetic association may be related to a vascular dysfunction common to both disorders. The co-occurrence of frequent miscarriages (although could be related to DES), in association with the presence of RLS and RP, may also suggest an underlying auto-immune disorder. Further genetic research is needed to confirm above findings with the potential uncovering of new therapeutic targets for RLS. Support (If Any) None.