Journal of Inherited Metabolic Disease

, Volume 32, Issue 6, pp 745–753

Psychological aspects of patients with Fabry disease


DOI: 10.1007/s10545-009-1254-1

Cite this article as:
Crosbie, T.W., Packman, W. & Packman, S. J Inherit Metab Dis (2009) 32: 745. doi:10.1007/s10545-009-1254-1


The Minnesota Muliphasic Personality Inventory (MMPI-2) is widely used in chronic illness and chronic pain populations to assess psychological functioning. We report the results of the first investigation using the MMPI-2 to assess psychological aspects of patients with Fabry disease. Fabry disease, an X-linked lysosomal storage disorder, is a multisystem progressive disease affecting the kidney, heart, and central nervous system, and is particularly associated with chronic symptoms including pain. In this study, 28 patients with Fabry disease completed the MMPI-2 and a background questionnaire. Fabry disease patients scored significantly higher than the MMPI-2 normative sample on seven clinical scales (Hs, D, Hy, Pd, Pa, Pt, Sc) and two validity scales (L, F). Individuals with elevated scores on the Hs, D, and Hy scales tend to have somatic complaints, sadness, and emotional distress. Under stress, they may experience an increase in physical symptoms. Elevated Pd, Pa, Pt, and Sc scales suggest social maladjustment, suspiciousness, and feelings of isolation. An elevated L scale suggests defensiveness; a high score on F suggests emotional turmoil. When compared with cohorts of patients with Gaucher disease (GD), chronic heart disease (CRHD), and chronic pain, the Fabry disease patients had significantly higher scores than GD patients and CRHD patients on numerous clinical (Hs, D, Si), and validity (F) scales underscoring the relative amount of suffering and pain experienced by Fabry disease patients. No significant differences on any MMPI-2 scales were found between the Fabry disease patients and the pain patients, suggesting that Fabry disease patients may be comparable to pain patient populations.



chronic heart disease


enzyme replacement therapy


Fabry disease


Gaucher disease


Minnesota muliphasic personality inventory

Copyright information

© SSIEM and Springer-Verlag 2009

Authors and Affiliations

  1. 1.Pacific Graduate School of Psychology at Palo Alto UniversityPalo AltoUSA
  2. 2.University of CaliforniaSan FranciscoUSA