Depression in adults with Fabry disease: a common and under-diagnosed problem

Anderson-Fabry disease (AFD), an X-linked lysosomal storage disorder, leads to multi-organ dysfunction and premature mortality. Depression in adults with AFD has been reported, but no large study has been done. We have examined the adult Fabry population in the United Kingdom to describe the prevalence, associated factors and frequency of diagnosis of depression.

Postal questionnaires were sent from four adult clinics to 296 AFD patients. A response rate of 62% (n = 184; 74 male, 110 female) formed the data set. Questionnaires collected demographic and Fabry-specific information. Depression status was assessed using the Centre for Epidemiological Studies depression scale (CES-D).

Responders were aged between 18 and 76 years (mean 44). The prevalence of depression was 46%, of which 28% were consistent with 'severe clinical depression'. Unlike the normal population, males with AFD report a higher prevalence of severe depression than females (36% males; 22% females). Interference of AFD symptoms with individuals' lives (particularly acroparaesthesiae or anhidrosis) showed the largest odds of association with depression. Relationship and financial status proved strong predictors of depression: 88% of those with mild-moderate depression and 72% with severe depression were undiagnosed.

Depression is common and under-diagnosed in AFD. Proper assessment of and treatment for depression could improve the quality of life of these patients.