Psychiatric findings in four female carriers of Fabry disease

Anderson-Fabry disease (AFD) is an X-linked recessive disorder of glycosphingolipid metabolism. Most female carriers are clinically symptomatic; however, psychiatric diagnoses have not been reported in this population. We describe four female carriers of AFD disease who met DSM-IV criteria for major depression. All cases had a score above 26 on the Hamilton Rating Scale for Depression, indicating severe depression. This was independent of the severity or number of symptoms of AFD disease. Excessive guilt, fatigue, occupational difficulty, suicidal ideation and depressed mood were findings in all cases. In conclusion, the common presence of depression in carriers of AFD implies the need for a multidisciplinary approach, including psychiatry, in management of these patients. Further studies are recommended to establish the etiology of psychiatric complications, as well as the incidence and the response to pharmacotherapy and psychotherapy.