Journal of Inherited Metabolic Disease

, Volume 32, Issue 6, pp 745–753

Psychological aspects of patients with Fabry disease



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


  1. Abreo K, Oberley TD, Gilbert EF, Opitz JM, Updike SJ (1984) Clinicopathological conference: a 29-yr-old man with recurrent episodes of fever, abdominal pain, and vomiting. Am J Med Genet 18:249–264CrossRefPubMedGoogle Scholar
  2. Abuaisha BB, Costanzi JB, Boulton AJ (1998) Acupuncture for the treatment of chronic painful peripheral diabetic neuropathy: a long term study. Diabetes Res Clin Pract 39:115–121CrossRefPubMedGoogle Scholar
  3. Bennett RL, Hart KA, O’Rourke E et al. (2002) Fabry disease in genetic counseling practice: recommendations of the national society of genetic counselors. J Genet Couns 11:121–146CrossRefPubMedGoogle Scholar
  4. Brady RO, Schiffmann R (2000) Clinical features of and recent advances in therapy for Fabry disease. J Am Med Assoc 284:2771–2775CrossRefGoogle Scholar
  5. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry’s disease: Ceramidetrihexosidase deficiency. N Engl J Med 276:1163–1167.PubMedGoogle Scholar
  6. Butcher JN, Dahlstrom WG, Graham JR, Tellegen A, Kaemmer B (1989) MMPI-2: Manual for administration and scoring. University of Minnesota Press, MinneapolisGoogle Scholar
  7. Caldwell (1988) The Caldwell Report, 1998, 5839 Green Valley Circle, Suite 203, Culver City, CA 90230, USAGoogle Scholar
  8. Chen H, Lamer TJ, Rho RH et al. (2004) Contemporary management of neuropathic pain for the primary care physician. Mayo Clin Proc 79:1533–1545CrossRefPubMedGoogle Scholar
  9. Cole A, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH (2007) Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis 30:943–951CrossRefPubMedGoogle Scholar
  10. Desnick RJ, Ioannou YA, Eng CM (2001) α-Galactosidase A deficiency: Fabry disease. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, 3733–3774Google Scholar
  11. Desnick RJ, Brady R, Barranger J et al. (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138:338–346PubMedGoogle Scholar
  12. Eng CM, Banikazemi M, Gordon RE et al. (2001) A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68:711–722CrossRefPubMedGoogle Scholar
  13. Enns G, Packman W (2002) The adolescent with an inborn error of metabolism: Medical issues and transition to adulthood [Review]. Adolesc Med: State Art Rev 13(2):315–329Google Scholar
  14. Graham JR (2000) MMPI-2: Assessing personality and psychopathology, 3rd ed. Oxford University Press, New YorkGoogle Scholar
  15. Greene RL (2000) The MMPI-2: An interpretive manual, 2nd edn. Allyn & Bacon, Needham Heights, MAGoogle Scholar
  16. Grewal RP (1993) Psychiatric disorders in patients with Fabry’s disease. Int J Psychiatry Med 23:307–312CrossRefPubMedGoogle Scholar
  17. Han J (2004) Acupuncture and endorphins. Neurosci Lett 361:258–261CrossRefPubMedGoogle Scholar
  18. Hathaway SR, McKinley JC (1940) A multiphasic personality schedule (Minnesota): I. Construction of the schedule. J Psychol 10:249–254Google Scholar
  19. Hoffmann B, Beck M, Gere SP et al. (2007) Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy—a restrospective analysis from the Fabry outcome survey. Clin J Pain 23:535–542CrossRefPubMedGoogle Scholar
  20. Kirkcaldy BD, Kobylinska E (1987) Psychological characteristics of breast cancer patients. Psychother Psychosom 48:32–43PubMedCrossRefGoogle Scholar
  21. Kolodny EH, Pastores GM (2002) Anderson–Fabry disease: extrarenal, neurologic manifestations. J Am Soc Nephrol 13:S150–S153PubMedGoogle Scholar
  22. MacDermot KD, Holmes A, Miners AH (2001) Anderson–Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38:750–760CrossRefPubMedGoogle Scholar
  23. Packman W, Crosbie TW, Riesner A, Fairley C, Packman S (2006) Psychological complications of patients with Gaucher disease. J Inherit Metab Dis 30:99–105CrossRefGoogle Scholar
  24. Pastores GM, Thadhani R (2002) Advances in the management of Anderson–Fabry disease: enzyme replacement therapy. Expert Opin Biol Ther 2:1–9CrossRefGoogle Scholar
  25. Phillips KD, Skelton WD, Hand GA (2004) Effect of acupuncture administered in a group setting on pain and subjective peripheral neuropathy in persons with human immunodeficiency virus disease. Altern Complement Med 10:449–455CrossRefGoogle Scholar
  26. Schiffmann R, Kopp JB, Austin HA et al. (2001) Enzyme replacement therapy in Fabry disease. JAMA 285:2743–2749CrossRefPubMedGoogle Scholar
  27. Schroder S, Liepert J, Remppis A, Greten JH (2007) Acupuncture treatment improves nerve conduction in peripheral neuropathy. Eur J Neurol 14:276–281PubMedGoogle Scholar
  28. Varvagoli L, Waisbren SE (1999) Personality profiles of mothers of children with mitochondrial disorders. J Inherit Metab Dis 22:615–622CrossRefGoogle Scholar
  29. Wilcox WR, Oliveira JP, Hopkins RJ et al. (2008) Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Gen Metab 93:112–128CrossRefGoogle Scholar

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

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