Gaucher disease (GD) is the most common hereditary lysosomal storage disorder. Of the three variants of GD, type 1 accounts for 90% of cases. Patients with GD suffer from multiple medical symptoms and conditions. Clinical features of type 1 GD include hepatosplenomegaly; hematologic complications such as anemia and thrombocytopenia; and skeletal disease leading to avascular necrosis, osteopenia, and osteosclerosis. GD has unique features as a chronic illness: the disorder often presents with mild symptoms, and is frequently diagnosed in later childhood or adulthood. The treatment, enzyme replacement therapy (ERT), is efficacious. However, that same effective treatment is intrusive, expensive, and requires that patients restructure their work and personal schedules. Since the age of presentation can be anywhere between infancy and the eighth decade, the diagnostic process can be prolonged and stressful. The success of ERT notwithstanding, GD patients show distinct psychological complications [Packman et al. (2006); J Inherit Metab Dis 29:99-105]. In the present study, we describe the concerns, needs, challenges and positive effects of GD from the patients' perspective using in depth interviews of 28 individual affected by GD. Five core themes emerge: (1) difficulty coping with the diagnosis; (2) impact of pain on work, career, and recreational activities; (3) insurance concerns; (4) psychological distress (e.g., mood changes and anxiety); and (5) positive effects-strengthened family and social relationships and positive outlook. Our results highlight and expand awareness of the psychological and social needs of GD patients. This study calls for a collaborative, multidisciplinary effort in treating these patients and their families.

The Minnesota Multiphasic Personality Inventory (MMPI-2) is commonly used in chronic illness and chronic pain populations to assess psychological functioning. We report the results of the first study employing the MMPI-2 to assess psychological aspects of patients with Gaucher disease, type I (GD) is an inborn error of metabolism with unique features as a chronic illness: the disorder often presents with mild symptoms, and is frequently diagnosed in later childhood or adulthood; the treatment is highly efficacious, but, that same treatment is intrusive and expensive and requires that patients restructure their work and personal schedules. In this study, 28 patients with GD completed the MMPI-2 and a background questionnaire. GD patients scored significantly higher than the MMPI-2 normative sample on MMPI-2 scales of Validity (K), Hypochondriasis (Hs), Depression (D), Hysteria (Hy), Psychasthenia (Pt) and Schizophrenia (Sc). Individuals with elevated scores on the Hs, D and Hy scales tend to have somatic concerns and depressed mood. Under stress, they are likely to report physical symptoms. Elevated Pt and Sc scales suggest psychological turmoil and, possibly feelings of isolation. An elevated K scale indicates a tendency for individuals to deny psychopathology. The length of time the patient with GD had been on enzyme replacement therapy was not significantly related to any of the 13 MMPI-2 scales. Cohorts of patients with chronic heart disease (CRHD) and cohorts of patients with chronic pain were utilized as comparative populations in this investigation. The elevated scores of the GD patients on MMPI-2 scales Hs, D and Hy were similar to those of the CRHD population. The chronic pain patients also showed elevations on MMPI-2 scales Hs, D and Hy, which were elevated in the GD patients; the elevations in the chronic pain patients were higher than those shown by the GD patients. We conclude that patients with GD exhibit moderate to severe psychological complications, similar to patients with other long-term chronic illnesses.

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.