Quality of life in multiple endocrine neoplasia type 2A compared with normative and disease populations.

BACKGROUND: Patient-reported outcomes are measured in chronic disease states to inform intervention and management decisions while minimizing negative outcomes. We hypothesized that health-related quality of life in patients with multiple endocrine neoplasia type 2A would be worse than the general US population but similar to other chronic diseases. METHODS: Adults ≥18 years with multiple endocrine neoplasia type 2A were recruited to complete the Patient-Reported Outcomes Measurement Information System 29-item questionnaire (n = 45). Scores based on the Patient-Reported Outcomes Measurement Information System T-score metric were compared with the general US population and with cohorts with low back pain, cancer, congestive heart failure, chronic obstructive pulmonary disease, major depressive disorder, rheumatoid arthritis, neuroendocrine tumors, primary hyperparathyroidism, and MEN1. RESULTS: Compared with US normative data, multiple endocrine neoplasia type 2A patients reported worse anxiety (58.2 ± 12.0, P < .0001), depression (55.4 ± 12.0, P < .01), fatigue (61.4 ± 10.8, P < .0001), pain interference (54.0 ± 11.5, P < .05), and sleep disturbance (56.9 ± 2.7, P < .001), as well as significantly lower physical functioning (45.7 ± 9.3, P < .01) and ability to participate in social roles (46.4 ± 9.7, P < .05). Multiple endocrine neoplasia type 2A patients reported greater fatigue than patients with cancer (P < .0001), chronic obstructive pulmonary disease (P = .01), rheumatoid arthritis (P = .0002), neuroendocrine tumors (P = .0007), and primary hyperparathyroidism (P < .0001) but higher physical functioning compared with patients with rheumatoid arthritis (P = .02), low back pain, congestive heart failure, and chronic obstructive pulmonary disease (P < .0001). CONCLUSIONS: This study is the first to use the Patient-Reported Outcomes Measurement Information System to compare patient-reported outcomes between multiple endocrine neoplasia type 2A and other chronic conditions. Individuals with multiple endocrine neoplasia type 2A reported worse health-related quality of life in all 7 domains compared with US normative data. Multiple endocrine neoplasia type 2A patients reported greater fatigue but greater physical function compared with several other conditions. Prospective longitudinal evaluation of patient-reported outcomes in multiple endocrine neoplasia type 2A should be conducted to identify treatments associated with the highest health-related quality of life.

Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients.

BACKGROUND: Data on psychological harm in multiple endocrine neoplasia type 2 (MEN2) are scarce. OBJECTIVES: The aim of this study was to assess anxiety, depression, quality of life, and coping in long-standing MEN2 patients. PATIENTS AND METHODS: Patients were 43 adults (age ≥18 years) with clinical and genetic diagnosis of MEN2 and long-term follow-up (10.6 ± 8.2 years; range 1-33 years). This was a cross-sectional study with qualitative and quantitative psychological assessment using semi-directed interviews and HADS, EORTC QLQ C30, and MINI-MAC scales. Adopting clinical criteria from 2015 ATA Guidelines on MEN2, biochemical cure (39%; 16/41), persistence/recurrence (61%; 25/41), and stable chronic disease (22/41) of medullary thyroid carcinoma (MTC) were scored. Pheochromocytoma affected 19 (44%) patients, with previous adrenalectomy in 17 of them. RESULTS: Overall, anxiety (42%; mean score 11 ± 2.9; range 8-18; anxiety is defined as a score ≥8) and depression (26%; mean score 11 ± 3.8; range 8-20; depression is defined as a score ≥8) symptoms were frequent. Patients who transmitted RET mutations to a child had higher scores for weakness-discouragement/anxious preoccupation and lower scores for cognitive, emotional, and physical functioning (p < 0.05). Feelings of guilt were present in 35% of patients with mutation-positive children. Lower mean score values for depression and anxiety and higher scores for role, cognitive, and emotional functioning were noticed in 33 patients who were well-informed about their disease (p < 0.05). Fighting spirit was more frequently found in patients with multiple surgical procedures (p = 0.019) and controlled chronic adrenal insufficiency (p = 0.024). Patients with MEN2-related stress-inducing factors had lower scores for fighting spirit and cognitive functioning and higher scores for insomnia and dyspnea (p < 0.05). Eleven patients required sustained psychotherapeutic treatment. Mean global health status was relatively good in MEN2 cases (68.1 ± 22.3), and the cured group had higher physical functioning (p = 0.021). CONCLUSIONS: Psychological distress is likely chronic in MEN2 patients. This study identified diverse MEN2-related factors (degree of information on disease, mutation-positive children, number of surgeries, comorbidities, stress-inducing factors, and cure) interfering positively or negatively with the results of the psychometrics scales. The active investigation of these factors and the applied psychological assessment protocol are useful to identify MEN2 patients requiring psychological assistance.

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.

Self-surveillance for genetic predisposition to cancer: behaviors and emotions.

PURPOSE/OBJECTIVES: To describe the kinds of self-monitoring activities and the emotional responses associated with those activities in patients with a genetic predisposition to multiple endocrine neoplasia type 2a (MEN2a) or familial adenomatous polyposis (FAP). RESEARCH APPROACH: Thematic analysis of the transcripts of patient interviews conducted for two previous grounded theory investigations of participation in lifelong surveillance for patients with cancer predisposition syndromes and their family members. SETTING: In the original studies, participants were recruited through a high-risk gastrointestinal cancer clinic (for FAP) and pediatric and adult endocrinology clinics (for MEN2a) at two eastern U.S. medical centers and by patient referral. PARTICIPANTS: 58 transcripts of interviews with 29 patients; 17 diagnosed with FAP or the variants of Gardner syndrome and attenuated FAP and 12 patients diagnosed with MEN2a. METHODOLOGIC APPROACH: Informants participated in two hour-long, in-depth interviews and completed a self-administered sociodemographic questionnaire. MAIN RESEARCH VARIABLES: Types of self-surveillance activities. FINDINGS: Patients engage in an elaborate set of self-surveillance activities that are grouped into five categories of behavior: Medication Appraisal, Phenotype Tracking, Intake and Output Monitoring, Laboratory and Treatment Recording, and Tracking of Visits. Self-surveillance behaviors are grouped independent of type of syndrome, penetrance, age, or gender of the patient. Each category comprises a variety of behaviors that correspond with treatment recommendations and understanding of the disorder. CONCLUSIONS: Self-surveillance may be driven by a combination of anticipation and the need for control and understanding. INTERPRETATION: Findings from the study could be used to create an assessment tool to evaluate the extent to which patients are involved in day-to-day self-monitoring. Clinicians may use the categories to better understand patients' knowledge deficits and the emotional impact of enhanced vigilance. Self-surveillance activities performed by patients with MEN2a and FAP also may be performed by patients with other cancer predisposition syndromes.

Bringing threat to the fore: participating in lifelong surveillance for genetic risk of cancer.

PURPOSE/OBJECTIVES: To explain how patients with multiple endocrine neoplasia type 2a (MEN2a) and family members conceptualize participation in lifelong surveillance in genetic cancer care. DESIGN: Qualitative naturalistic inquiry. SETTING: Northeastern United States. Data were collected during interviews in informants' homes. SAMPLE: 12 adult patients and 9 family members were recruited purposively through endocrinology clinics at two East Coast medical centers. METHODS: A grounded theory design was used. Subjects completed a demographic questionnaire and were interviewed on two occasions. In-depth interviews were audiotaped. The core concept and process variables emerged through three levels of narrative content analysis, theoretical sampling, and constant comparison. The generated theory was presented to the participants for validation. MAIN RESEARCH VARIABLES: The basic psychological issue associated with participation in lifelong surveillance and the psychosocial processes used by individuals to deal with the issues. FINDINGS: MEN2a patients and family members experience surveillance as a (Re)Minding of a threat to health. Once threat is brought to the fore, participants interpret the meaning and negotiate control of the impact of the diagnosis, related events, and consequences. Meaningful information from surveillance activities is incorporated into participants' self-image and daily lives through a process of (Re)Integration. The genetic nature of MEN2a did not emerge as a significant subcategory in relation to the core variable. CONCLUSIONS: Finding meaning in the outcomes of surveillance events is a psychosocial process that is central to participation in lifelong surveillance. Genetic predisposition to cancer was a peripheral concern to subjects as they dealt with surveillance issues. IMPLICATIONS FOR NURSING: This investigation provides a model for the development of a grounded theory for understanding how people with other genetic cancer syndromes participate in lifelong surveillance.

Multiple endocrine neoplasia type 2a (MEN2a): a call for psycho-social research.

This paper summarizes what is known about the diagnosis, treatment, and follow-care of people with the inherited disorder multiple endocrine neoplasia type 2a (MEN2a). Several databases were searched throughout the year 2000, including MEDLINE, CINAHL, CancerLit, PsychINFO, and Dissertation Abstracts International. MEN2a is a complex disease involving cancer care and control by surgery, health maintenance, and life-long observation of gene mutation carriers. Genetic testing is the standard of care, prophylactic surgery is recommended during directive counseling, and life-long surveillance is encouraged for people with MEN2a. A substantial body of scientific literature describes morbidity and mortality outcomes of disease treatment, and the monitoring of multiple organ systems. Research is scant concerning the psychological consequences and social impact of the MEN2a diagnosis, treatment, and follow-up. Nearly all that is known from a psycho-social perspective comes from data in The Netherlands. Little is known of the psychological responses to and social consequences of genetic predisposition testing, prophylactic and curative surgery, and life-long surveillance. Psycho-social research is essential to provide comprehensive care for patients and family members with this disorder and it is necessary to guide the development of risk management strategies for patients with this inherited cancer syndrome. Since MEN2a has been labeled a prototype for medical genetics, information on MEN2a patient experiences may be relevant to the care of individuals with other inherited cancer syndromes.

Parents' responses to disclosure of genetic test results of their children.

The psychological reactions of 22 parental couples and 3 single parents were investigated after disclosure of genetic test results of their children. The children were tested for the early-onset, monogenetic cancer disorder multiple endocrine neoplasia type 2. Participants came from 13 different families and were aged between 28 and 47 years. Parents who were informed that their child was a gene carrier reacted with resignation, showed moderate to high levels of test-related and general anxiety, but few psychological complaints. Daily activities were disturbed in 43% of the parents with carrier-children. There was little disruption of the parents' future perspective, apart from some socioeconomic disadvantages and increased parental concern for the carrier-children. Most parents with carrier-children showed restraint with respect to short-term prophylactic treatment. Parents with favorable test results showed significantly less anxiety and no disturbance in their daily activities. They did not, however, seem to be reassured by the DNA test result. These parents questioned the reliability of the DNA test, wanted confirmation of the test results, and were eager to continue screening of their noncarrier children. Parents, especially those with a lower level of education and/or a pessimistic view of the future, were distressed by unfavorable test results. Additional counseling is advised to prevent parents of carrier-children worrying unnecessarily, or parents with children in whom the disease gene was not found being not reassured. Am. J. Med. Genet. 94:316-323, 2000.

Hereditary cancers in children and ethical and psychosocial implications.

This article describes the application of genetic testing of children for hereditary cancers and the resultant ethical and psychosocial implications. Basic cancer genetics concepts are reviewed. Specific hereditary cancers that may affect children are described along with case examples and recommendations for nursing practice.

Distress in MEN 2 family members and partners prior to DNA test disclosure. Multiple endocrine neoplasia type 2.

Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant early-onset cancer disorder. In the Netherlands presymptomatic genetic testing for MEN 2 is offered to testees from the age of five years. We report on adults requesting testing for themselves (n=90) and on parents who want an at-risk child to be tested (n=26). Sociodemographic, personality, and attitude characteristics, and levels of psychological distress, were determined for applicants and their partners in the predisclosure phase of testing. These participants showed only mildly increased levels of psychological distress, defined as heightened scores on measures of general and test-related anxiety, and of psychological complaints. Compared with a normal population, high levels of anxiety and health complaints were found in applicants who were younger than 25 years and single, and in persons who generally tended to react to distressful situations with anxiety or depression. These characteristics were particularly evident in young applicants (<25 years). Our study shows that people who feel ambivalent towards DNA testing and who are more vulnerable to psychological distress are more likely to agree to participate in the test as part of a collective application by members of a hereditary cancer family.

Psychological risks of genetically testing children for a hereditary cancer syndrome.

Parents in families with a hereditary cancer syndrome are often familiar with periodical clinical testing of both themselves and their children. Genetic testing is an additional early diagnostic option that is becoming available for an increasing number of hereditary cancer syndromes. Participants in genetic counseling programs for cancer syndromes are often parents who apply for their children. If a child is identified as a carrier of a specific disease-causing gene mutation, sometimes its parents must decide on when it will be treated can treatment be postponed until expression of the disease or should the child receive presymptomatic surgery? We discuss some of the possible risks of genetically testing children: distress as a result of ambivalent feelings towards testing, preoccupation with disease-related signs, changes in family interactions, the burdening prospect of a future disease and medicalization of the carrier-child.

Psychosocial consequences of DNA analysis for MEN type 2.

Multiple endocrine neoplasia type 2 (MEN-2) is characterized by medullary thyroid carcinoma in combination with pheochromocytomas and, sometimes, parathyroid adenomas. Since 1993, the psychosocial implications of DNA analysis for MEN-2 have been studied in the Netherlands. This article summarizes the first results of that study. Individuals who applied for DNA analysis cited the need to reduce uncertainty as the major reason for wanting the test. An unfavorable test outcome resulted in anxiety and depression but also relief. Immediate preventive treatment was preferred to continued periodic screening. Carriers were preoccupied with disease-related complaints, and identified with other carriers and MEN-2 patients. A favorable test led, in most applicants and partners, to both relief and worry. Some noncarriers felt guilty and isolated from their families. One year after counseling, participants reported fewer psychosomatic complaints.