Phenotyping and genotyping of Maltese patients with acromegaly

Abstract

BACKGROUND: Acromegaly is a chronic disorder caused by excessive growth hormone (GH) and insulin growth factor-1 (IGF-1) levels. AIMS: To describe the epidemiology, presentation and outcomes, secondly to identify presence of AlP mutations and thirdly to assess the effect of acromegaly on quality of life (QoL). METHODS: A cross sectional and retrospective case-record study. The AcroQoL questionnaire was self administered by patients. Genetic studies were carried out to identify AlP mutations. RESULTS: Forty seven patients were included. The annual incidence of acromegaly in the Maltese population was 0.41 per 100,000 population while prevalence was 11.4 per 100,000 population. The mean age at diagnosis was 43.38 years (SD12.5). Females were diagnosed at a significantly older age than males p = 0.01. Macroadenomas were identified in 76%. Surgical success rates were 23% for extrasellar macroadenomas, 38% for intrasellar macroadenomas and 50% for microadenomas. At the time of the survey 38 patients were controlled. One new mutation was identified in exon 1 of the AlP gene in a female diagnosed at 63 years with a macroadenoma. The mutation R9Q, C.26 G>A resulted in substitution of arginine by glutamine. The mean AcroQoL total score was 67.3 (SO 16.89), for the physical dimension 66.5 (SO 23.41) and for IV the psychological dimension 67.8 (SO 16.14). The subscale appearance was the worse affected. Females had significantly lower total scores, p = 0.02 and physical scores p = 0.001. CONCLUSIONS: Malta has a high incidence and prevalence of acromegaly. The number of AlP mutations found in our population is comparable to that in sporadic pituitary adenomas. Outcomes are similar to centres overseas but lower when compared to the best published series. Patients exhibit marked impairment of HRQoL especially in the appearance subcategory. The AcroQoL questionnaire may highlight aspects of quality of life that clinicians might overlook.