Endocrine Abstracts

Introduction: Patients with mutations in the Succinate Dehydrogenase Complex Subunit B (SDHB) gene are predisposed to neuroendocrine tumours such as parangangliomas, phaeochromocytomas and gastrointestinal stromal tumours. Individuals who are carriers but have no manifestation of disease require regular surveillance. Our tertiary endocrine service provides follow up/surveillance for these patients and we cover a wide geographical area throughout the West of Scotland.

Aims: Our aim was to report follow up rates for individuals carrying a mutation in the SDHB gene (with and without disease) who were attending a tertiary endocrine service. We hypothesised that patients with a mutation but with no clinical manifestations would be less likely to attend clinic than those with clinical evidence of disease.

Methods: A list of patients with a mutation in the SDHB gene and who were known to the endocrine genetics service was obtained from outpatient clinic work lists from 2013 to 2015. Demographic data, follow up, genetic status, biochemical and imaging results were obtained. Patients were defined as having disease if they had characteristic imaging or pathology and carried an SDHB mutation. Data were collected in a secure excel spreadsheet.

Results: From year 2013 to 2015, there were 113 patients with SDHB mutations who were known to the service. Fifty-four (48%) were male and 59 (52%) were female. Average age of patients was 44.6 years (range 10–93 years). Eighty-three (74%) patients attended the clinic in that time period. Of the 83 patients who attended, 31 (37%) had disease and 52 (62%) did not have disease. Of the 30 not attending the clinic in 2013–2015, those who had died or were followed up elsewhere were excluded (10/113), leaving 20 (19%) who were lost to follow up, which consisted of 9/40 (23%) patients who had disease and 11/63 (17%) without disease.

Conclusion: We conclude that a majority of patients with SDHB attended the service. In terms of follow up, patients without disease manifestations may be less likely to attend but numbers are small. Further work needs to be undertaken in improving follow up especially in patients who are mutation positive without disease.