Psychosocial Impact and Disease Management in Patients with Congenital Factor VII Deficiency.

PURPOSE: Congenital factor VII (FVII) deficiency is a rare bleeding disorder of variable phenotype with predominantly mucocutaneous bleeding. The aim of this study was to identify the burden of FVII deficiency on patients and caregivers through a better understanding of the management and psychosocial impact of this disease. MATERIALS AND METHODS: A rare disease specialty recruiter from Comprehensive Health Education Services recruited participants for this online survey, which was conducted from January 31 to March 12, 2019. A moderator-assisted questionnaire was used to collect data on demographics, diagnosis, treatment, and psychosocial impact. RESULTS: Of the 45 respondents (25 patients and 20 caregivers), the majority were female (56%). Respondents reported a wide variety of initial bleeding symptoms, including bruising (58%), epistaxis (56%), and menorrhagia (36% of females). Because symptoms varied between individuals and were not always severe, diagnosis was often delayed. Mean time to obtain a diagnosis was 6.5 years and mean age at first diagnosis was 12.9 years. One-quarter (24%) of the respondents reported more than 100 bleeds of any severity over the previous year. When treating bleeds, 44% of patients reported using antifibrinolytics, and 42% reported using recombinant activated factor VII. Almost 31% of respondents reported missing schooldays as children, and 16% reported losing or resigning from a job in adulthood as a direct result of their disease. Notably, 29% of caregivers and 10% of their partners had also experienced issues with employment. Forty percent of respondents reported not participating in contact sports during childhood, and 22% continued to avoid contact sports in adulthood. CONCLUSION: Overall, FVII deficiency has a substantial psychosocial impact, but most patients are satisfied with their disease management and are optimistic about their future. Patients desire additional educational, social, and financial support.

Behavioral genetics of the depression/cancer correlation: a look at the Ras oncogene family and the 'cerebral diabetes paradigm'.

This study investigates the causes of the observed linkage between depression and later onset of cancer. The prevailing view is that cancer in depressed patients results from a weakened immune system. However, molecular biologists have recognized that dysregulation of the ras proto-oncogene results in impaired serotonin and dopamine synthesis manifesting as major depression. A qualitative review of the literature showed that (1) studies using the Minnesota Multiphasic Personality Inventory showed a greater correlation between depression and later cancer onset than those employing other measures and (2) the more related the cancer type was to the Ras oncogene family, the greater the correlation between depression and later cancer onset. These results support the hypothesis that the ras proto-oncogene plays a role in the etiology of depression and could be the common denominator in long-observed depression/cancer linkages. Previous depression/cancer linkage studies are confounded in that they failed to analyze cancer type and accurately diagnose depression.