What is the phenotype of patients with Gaucher disease and Parkinson’s disease?
In a large Gaucher disease clinic in Israel, the disease characteristics of patients with Gaucher disease and Parkinson’s disease were assessed based on medical files (between 1990 and 2010) of 510 adult patients with Gaucher disease Type 1 (45.7% [n=233/510] males). Within this cohort, 11 (2.2%) patients with Parkinson’s disease were identified. Cognitive impairment was the most common clinical feature (n=7/11). Patients who had both Gaucher disease and Parkinson’s disease were significantly more likely to be male (81.8% vs 44.9%; p=0.027) and of an older mean age (62.8 years vs 47.1 years; p=0.004) than those without Parkinson’s disease. In this study, the severity of Gaucher disease was not significantly different between patients with and without Parkinson’s disease (7.7 vs 8.3; p>0.05).7
What other neurological disorders may patients with Gaucher disease experience?
In a study of 28 patients with Gaucher disease Type 1 (25.0% aged 18‒40 years; 39.3% aged 41‒55 years; 28.6% aged 56‒75 years), psychological functioning was assessed by the Minnesota Multiphasic Personality Inventory (MMPI-2) and a background questionnaire.8 Compared with a normative sample group, patients with Gaucher disease scored significantly higher on MMPI-2 scales for validity, hypochondriasis, depression, hysteria, psychasthenia (includes compulsions, obsessions and phobias)9 and schizophrenia.8 Patients with elevated scores for depression, hypochondriasis and hysteria tended to have somatic concerns and depressed mood, and were more likely to report physical symptoms. An elevation in psychasthenia and schizophrenia scales was suggestive of psychological turmoil and feelings of isolation. Higher scores for validity indicated that patients tended to deny or minimise psychopathology, as it is common for patients with chronic disorders to minimise the seriousness or significance of a disease to cope with upsetting feelings. Cohorts of patients with chronic heart disease and chronic pain have also shown elevations in depression, hypochondriasis and hysteria, suggesting that patients with Gaucher disease may exhibit moderate-to-severe psychiatric comorbidities, similar to those of other patients with long-term chronic conditions.8
In a different study, the presence of psychiatric comorbidities in 22 Egyptian patients with Gaucher disease (Type 1, n=13; Type 3, n=9) was determined using Arabic versions of the Mini-International Neuropsychiatric Interview (M.I.N.I) and the Mini-International Neuropsychiatric Interview for Children and Adolescents (M.I.N.I-KID) tools. In total, 41% of patients with Gaucher disease had psychiatric disorders, the most common being depression; however, no patients received any form of psychiatric treatment. There was no statistically significant association between the presence of psychiatric disorders and any clinical variable, genotype or phenotype of Gaucher disease. Overall, this study suggested that patients with Gaucher disease may also have psychiatric disorders.10