Health-Related Quality of Life in Patients with Multiple Endocrine Neoplasia Type 1.

INTRODUCTION: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine tumor syndrome characterized by the triad of primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors (pNETs), and pituitary tumors. Patients are confronted with substantial morbidity and are consequently at risk for an impaired quality of life (QOL). Meticulous assessment of QOL and associated factors in a representative population is needed to understand the full spectrum of the burden of the disease. PATIENTS AND METHODS: A cross-sectional study was performed using the national Dutch MEN1 cohort. Patients with a confirmed MEN1 mutation received the SF-36 Health Related Quality of Life questionnaire and questions regarding sociodemographic and medical history. RESULTS: A total of 227 of 285 (80%) eligible MEN1 patients returned the questionnaires. Health-related QOL scores (HRQOL) in MEN1 patients were significantly lower for the majority of subscales of the SF-36 in comparison with the general Dutch population. The most consistent predictor for HRQOL was employment status, followed by the presence of a pituitary tumor. 16% of patients harboring a pNET and 29% of patients with a pituitary tumor according to the medical records, reported that they were unaware of such a tumor. These subgroups of patients had several significant better QOL scores than patients who were aware of their pNET or pituitary tumors. CONCLUSION: Patients with MEN1 have an impaired QOL in comparison with the general Dutch population warranting special attention within routine care. For daily practice, physicians should be aware of their patients' impaired QOL and of the impact of unemployment on QOL.

Health-related quality of life in MEN1 patients compared with other chronic conditions and the United States general population.

BACKGROUND: Health-related quality of life (HRQOL) in multiple endocrine neoplasia type-1 (MEN-1) is poorly described. HRQOL in MEN-1 was compared with other chronic conditions and the US general population. METHODS: Adults aged ≥18 years recruited from an MEN-1 support group (n=153) completed the Patient-Reported Outcomes Measurement Information System (PROMIS) 29-item profile. MEN-1 scores were compared with PROMIS scores reported in peer-reviewed literature from back pain (n=218), cancer (n=310), congestive heart failure (CHF; n=60), chronic obstructive pulmonary disease (COPD; n=79), major depressive disorder (n=196), rheumatoid arthritis (RA; n=521), neuroendocrine tumors (NET; n=619), and primary hyperparathyroidism (PHPT; n=45) cohorts. RESULTS: Patients with MEN-1 reported worse anxiety (mean=61.7), depression (57.9), fatigue (62.2), pain interference (55.4), sleep disturbance (58.0), physical functioning (44.4), and social functioning (44.7) compared to normative data (50, P < .05) and greater anxiety, depression, and fatigue than patients with back pain, cancer, COPD, RA, NETs, and PHPT (P < .001). MEN-1 respondents had greater pain interference (55.4) than those with cancer (51.9), NETs (52.3), and PHPT (38.4, P < .05). Physical functioning was higher in individuals with MEN-1 (44.4) than in those with back pain (37.5), CHF (34.8), COPD (38.0), and RA (40.7, P < .01). CONCLUSION: This is the first study to describe HRQOL in a large sample of adults with MEN-1. MEN-1respondents reported worse HRQOL across PROMIS 29-item profile measure domains compared with the US general population and higher levels of anxiety, depression, and fatigue compared with many other chronic conditions.

High Fear of Disease Occurrence Is Associated With Low Quality of Life in Patients With Multiple Endocrine Neoplasia Type 1: Results From the Dutch MEN1 Study Group.

Objective: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary disease characterized by a high risk of developing primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors, and pituitary tumors (PITs). It is unclear if having MEN1 leads to psychological distress because of fear of disease occurrence (FDO), thereby potentially affecting quality of life. Design: A cross-sectional study was performed using the Dutch MEN1 cohort. All patients received the Cancer Worry Scale (a score ≥14 reflects high FDO), the Medical Outcomes Study 36-item Short-Form Health Survey (SF-36), and questions on sociodemographic and medical history. Results: A total of 227 of 285 (80%) eligible patients with MEN1 completed the questionnaire. The mean (± standard deviation) age was 47 ± 15 years. Overall, patients experienced an FDO of 15.1 ± 4.7, with 58% of patients having a score ≥14. This is higher than reported in previous studies assessing fear of cancer recurrence in different cancer populations (31% to 52%). Adjusted for age and sex, the FDO score was negatively associated with almost all SF-36 subscales. In multivariable analysis, the diagnosis of a PIT, a pancreatic neuroendocrine tumor, and not being employed were associated with FDO (P < 0.05). Patients had higher FDO scores for their family members than for themselves. Conclusion: The majority of patients with MEN1 have FDO for themselves and even more for their relatives. This psychological distress is associated with a lower health-related quality of life. Therefore, in the medical care for MEN1, emphasis should also be placed on FDO and quality of life.

Management impact: effects on quality of life and prognosis in MEN1.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumor syndrome, caused by inactivating mutations of the MEN1 tumor suppressor gene at 11q13 locus, which predisposes to develop tumors in target neuroendocrine tissues. As the positional cloning and identification of the causative gene in 1997, genetic diagnosis, by the sequencing-based research of gene mutations, has become an important tool in the early and differential diagnosis of the disease. Application of the genetic test, in MEN1 index cases and in first-degree relatives of mutated patients, has been constantly increasing during the last two decades, also thanks to the establishment of multidisciplinary referral centers and specific genetic counseling, and thanks to the wide availability of high throughput instruments for gene sequencing and gene mutation identification. The MEN1 genetic test helps the specific diagnosis of probands, and allows the early identification of asymptomatic carriers, strongly contributing, together with progressions in tumor diagnostic techniques and in pharmacological and surgical therapeutic approaches, to the reduction of morbidity and mortality associated with the syndrome. International clinical guidelines for MEN1 have been drafted by panels of specialists in the field, with the main goal to improve the management of the disease and grant patients a better quality of life. Here, we review main recommendations and suggestions derived by the last published general guidelines in 2012, and by most recent published studies about MEN1 syndrome diagnosis, clinical management, therapeutic approaches and patients' quality of life.

Disease and treatment factors associated with lower quality of life scores in adults with multiple endocrine neoplasia type I.

BACKGROUND: Physical and psychosocial morbidity of multiple endocrine neoplasia type-1 is ill-defined. How disease and treatment-related factors relate to patient-reported outcomes including health-related quality of life is unknown. We hypothesized that disease and treatment burden negatively impacts health-related quality of life in adults with multiple endocrine neoplasia type-1. METHODS: Adults (≥18 years) with multiple endocrine neoplasia type-1 completed an online survey of demographics, disease features, treatments, and Patient-Reported Outcomes Measurement Information System 29-item profile measure, and scores were compared with normative US data. Multivariable modeling was performed to evaluate factors associated with decreased health-related quality of life. RESULTS: Multiple endocrine neoplasia type-1 patients (n = 207) reported worse health-related quality of life compared with US normative data in all health-related quality of life domains (P < .001). Persistent hypercalcemia after parathyroid surgery was associated with higher levels of anxiety, depression, fatigue, and decreased social functioning (P < .05). Patients <45 years of age at diagnosis reported worse physical and social functioning (P < .01). Traveling >50 miles for doctor appointments and ≥20 doctor appointments/year (P < .05) were associated with worse health-related quality of life. History of pancreatic neuroendocrine tumors was not associated with worse health-related quality of life. CONCLUSION: This is the largest study to assess clinical and treatment factors associated with health-related quality of life in multiple endocrine neoplasia type-1. Persistent hyperparathyroidism, increased travel distance and frequency of doctor appointments were all associated with worse health-related quality of life.

Financial burden is associated with worse health-related quality of life in adults with multiple endocrine neoplasia type 1.

BACKGROUND: Health-related quality of life and financial burden among patients with multiple endocrine neoplasia type 1 is poorly described. It is not known how financial burden influences health-related quality of life in this population. We hypothesized that the financial burden attributable to multiple endocrine neoplasia type 1 is associated with worse health-related quality of life. METHODS: United States adults (≥18 years) with multiple endocrine neoplasia type 1 were recruited from the AMENSupport MEN online support group. Patient demographics, clinical characteristics, and financial burden were assessed via an online survey. The instrument Patient-Reported Outcomes Measurement Information System 29-item profile measure was used to assess health-related quality of life. Multivariable linear regression was used to identify significant variables in each Patient-Reported Outcomes Measurement Information System domain. RESULTS: Out of 1,378 members in AMENSupport, our survey link was accessed 449 times (33%). Of 153 US respondents who completed our survey, 84% reported financial burden attributable to multiple endocrine neoplasia type 1. The degree of financial burden had a linear relationship with worse health-related quality of life across all Patient-Reported Outcomes Measurement Information System domains (r = 0.36-0.55, P < .001); 63% reported experiencing ≥1 negative financial event(s). Borrowing money from friends/family (30%), unemployment (13%), and spending >$100/month out-of-pocket on prescription medications (46%) were associated consistently with impaired health-related quality of life (ß = 3.75-6.77, P < .05). Respondents were 3- and 34-times more likely to be unemployed and declare bankruptcy than the US population, respectively. CONCLUSION: This study characterizes the financial burden in patients with multiple endocrine neoplasia type 1. Individuals with multiple endocrine neoplasia type 1 report a high degree of financial burden, negative financial events, and unemployment. Each of these factors was associated with worse health-related quality of life.

Quality of life in patients with multiple endocrine neoplasia type 1 (MEN 1).

To study quality of life among patients living with a hereditary tumor syndrome, the small group with multiple endocrine neoplasia type 1 (MEN1) was selected. It is characterized by multifocal adenomas of the pancreas, parathyroid, anterior pituitary and other endocrine glands. Patients were assessed at an in-hospital stay and six months later at home. Patients at a specialist ward for MEN1 were recruited consecutively (n = 36) during one year. Eighty-one percent participated (n = 29). Four questionnaires were used: the Hospital Anxiety and Depression Scale (HADS), the Impact of Event Scale (IES), the Life Orientation Test (LOT) and the Short Form-36 (SF-36). Psychosocial outcome measures (anxiety, depression, intrusion, avoidance) changed only marginally between the in hospital stay and six months later at home. However, depression increased for patients categorized as having a high burden of disease and treatment. Compared to population-based norm values, the SF-36 scores of the patient group MEN1were lower for General Health and Social Functioning. Optimism assessed at the hospital was a predictor of Mental Health six months later. Most MEN 1 patients (70%) were pessimists. Patients having a higher burden of disease and treatment are in need of support after discharge. Patients could easily be monitored with questionnaires and, when indicated, offered help for their psychosocial distress.

Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes.

Preimplantation genetic diagnosis (PGD) allows couples to avoid having a child with an inherited condition, potentially reducing cancer burden in families with a hereditary cancer predisposition. This study investigated and compared awareness and acceptance of PGD among patients with different hereditary cancer syndromes. Questionnaires were mailed to 984 adults with hereditary breast and ovarian cancer, Lynch syndrome, familial adenomatous polyposis, or multiple endocrine neoplasia type 1 or 2. Associations between clinical, demographic, and psychosocial factors and awareness and acceptance of PGD were examined. Of 370 respondents (38 % return rate), 28 % felt their syndrome impacted family planning, 24 % were aware of PGD, 72 % felt that PGD should be offered, 43 % would consider using PGD, and 29 % were uncertain. Family experience and syndrome-specific characteristics, such as disease severity, quality of life and availability of medical interventions as well as gender, family planning stage, and religiosity impact perceptions of the acceptability of PGD, though a high level of uncertainty exists. Hereditary cancer patients lack awareness of PGD despite feeling that PGD should be offered, highlighting the need for education on this topic. While we found attitudes about the acceptability of PGD to be generally similar to those reported in the literature and of genetics and ethics experts, we observed similarities and differences between syndromes that provide insight into why some hereditary cancer patients may find PGD more acceptable than others.

Living with multiple endocrine neoplasia type 1: decent care-insufficient medical and genetic information: a qualitative study of MEN 1 patients in a Swedish hospital.

This qualitative study explores how 29 Swedish patients with Multiple Endocrine Neoplasia type 1 (MEN1) experience living with the condition, appraisal of the clinical follow-up program, and surveys their future expectations. The aim of this study is to build knowledge about this patient group in order to provide optimal care. The participants describe physical, psychological, and social limitations in their daily activities and how these limitations influence quality of life. Our findings indicate that a majority of patients have adjusted to their situation, describing themselves as being healthy despite physical symptoms and treatment. The participants received decent care in the clinical follow-up program, - however, greater effort should be put into patient information. These patients might benefit from genetic counseling. Health professionals involved should recognize their potential impact and influence on a patient's ability to adjust to these circumstances. Antonovsky's Sense of Coherence theory is used to discuss these findings.

Pancreatoduodenal surgery in patients with multiple endocrine neoplasia type 1: Operative outcomes, long-term function, and quality of life.

BACKGROUND: Pancreatoduodenal (PD) neoplasms represent the principal disease-specific lethality in multiple endocrine neoplasia type 1 (MEN1). Potential oncologic benefits of PD resection must be weighed against operative morbidities, compromised pancreatic function, and quality of life (QOL). METHODS: Fifty MEN1 patients underwent PD resections during 1984-2004. Postoperative pancreatic function and QOL were assessed by EORTC QLQ-C30 and a disease-specific questionnaire (response rate, 78%). RESULTS: Twelve patients (24%) had asymptomatic disease detected by screening; 38 patients (76%) were symptomatic. All gross neoplasm was resected in 80% of patients. No patients died; 21 patients (42%) had complications. At 5 years postoperatively, 60% of patients were alive without disease, 24% of patients were with disease, 10% of patients died of PD neoplasms, 4% of patients died of other malignancies, and 2% of patients died of an unknown cause. Diabetes that requires insulin or oral hypoglycemics developed in 20% of patients. Frequent steatorrhea (>once/week) occurred in 25% of patients, early dumping occurred in 25% of patients, bloating occurred in 25% of patients, late dumping occurred in 7% of patients, hypoglycemia occurred in 7% of patients, and vomiting occurred in 4% of patients. Global QOL did not differ from that of the reference population (72.8 vs 75.3; P = .58). CONCLUSION: PD resections in MEN1 are associated with perioperative risks and altered pancreatic function. The moderate compromise in patient-perceived QOL suggests that most patients accept and adapt to these trade-offs for the potential of prolonged survival.