Illness perceptions, risk perception and worry in SDH mutation carriers

Abstract

Succinate dehydrogenase (SDH) mutation carriers are predisposed for developing paragangliomas. This study aimed to explore illness perceptions, risk perception and disease-related worry in these individuals. All consecutive SDHB and SDHD mutation carriers followed at the Department of Endocrinology of the Leiden University Medical Center (LUMC), a tertiary referral center, were eligible for inclusion. Illness perceptions were assessed using the validated Illness Perception Questionnaire-Revised and compared to reference populations. Risk perception and worry were measured by two items each and associations with illness perceptions explored. Twenty SDHB and 118 SDHD mutation carriers responded. Compared with various reference groups, SDH mutation carriers perceived less controllability of their condition. SDHB mutation carriers considered their condition to be less chronic in nature (p = 0.005) and perceived more personal (p = 0.018) and treatment control (p = 0.001) than SDHD mutation carriers. Mutation carriers with manifest disease reported more negative illness perceptions and a higher risk perception of developing subsequent tumors than asymptomatic mutation carriers. Illness perceptions, risk perception and disease-related worry were strongly correlated. Risk perception and disease-related worry may be assessed through illness perceptions. The development of interventions targeting illness perceptions may provide tools for genetic counseling.

Illness Perceptions of Breast Cancer in Japanese Middle- and Early Old-Aged Women: Psychometric Properties of the Brief Illness Perception Questionnaire for Use in Diagnosing Breast Cancer in Japan

“…1, the results of path modeling using SEM supports theoretical perspective of CSM that risk perception and disease-related worry are influenced by illness perceptions [13]. Further, several empirical studies supporting this theory have been conducted, focusing on patients with breast cancer [19,22], venous thrombosis [35], and succinate dehydrogenase mutation [36].…”

MANAGEMENT OF ENDOCRINE DISEASE: Clinical management of paragangliomas

“…Early detection of a familial PGL allows early detection and early treatment with fewer complications of potentially malignant PGLs, especially in SDHB, MAX, and FH mutation carriers (135,136). However, because up till now only scarce information have been available on age-related penetrance in SDHx-, MAX-, TMEM-, and FH-related disease in asymptomatic mutation carriers, genetic testing of family members and subsequent surveillance of mutation carriers remain controversial, especially because tumor screening may cause a significant psychological burden (137). However, with the present nonevidence based knowledge, we recommend regular clinical follow-up in mutation positive carriers (76,92), except for the children of female mutation carriers of SDHD, SDHAF2, and MAX, because of maternal imprinting.…”