Endocrine Abstracts

While pituitary adenomas (PA) usually occur as a sporadic disease, an increasing number of patients are recognised with a family member also suffering from a PA. If no other syndromic features are present, these families are categorised as FIPA. In published studies, 20% of the FIPA families, 20% of sporadic childhood and 13% of sporadic young-onset (≤30 years) acromegaly patients carry a germline AIP mutation. As familial disease is more aggressive, family screening could provide the possibility of early tumour detection and treatment.

Retrospective and prospective audits were performed on our pituitary patient population in terms of family history of PA. Known MEN1 patients were excluded from the analysis.

Retrospective data of 225 patients with acromegaly were analysed; 8 (3.6%) patients from six families were identified with a positive family history. Three were AIP-mutation positive (37.5% of patients with a positive family history, 1.3% of all retrospective patients).

Prospective data gained from a questionnaire of 222 PA patients identified 15 patients (6.8%) with a family history of PA; 64 acromegaly patients were studied (28.3% of the prospective cohort), of which seven patients (10.9%) had a positive family history.

Regarding patients with acromegaly, in the retrospective study 41 (18.2%) and in the prospective study 17 (27%) patients had young-onset disease; 7 (17.1%) young patients in the retrospective and 4 (23.5%) in the prospective study had a family history.

There is a considerable difference in the percent of patients with family history in the retrospective (overall: 3.6%, young-onset: 17.1%) and prospective (overall: 10.9%, young-onset: 23.5%) acromegaly cohort.

These data suggest that almost 7% of an unselected tertiary centre pituitary patient population has a family history of PA. Careful history taking increases the proportion of patients with a family history of acromegaly nearly 3-fold and active inquiry may reveal previously unknown familial connections in all types of PA.