Somatostatin analogues for refractory diarrhoea in familial amyloid polyneuropathy

Abstract

Introduction Familial amyloid polyneuropathy (FAP) is a genetic disease leading to the production of a variant transthyretin (TTR) or a beta variant β2-microglobulin. FAP may be associated with refractory diarrhoea. In this study, we assessed the efficacy and tolerance of somatostatin analogues in refractory diarrhoea associated with FAP. Methods FAP patients from the French national referral center who received somatostatin analogues for a refractory diarrhoea were retrospectively studied. We assessed remission of diarrhoea, as defined by a stool consistence of five or less on the Bristol stool scale, assessed after three to six months of follow-up. Stool frequency and continence before and after three to six months of treatment were also compared by the means of Wilcoxon and McNemar’s exact tests, respectively. Results Fourteen patients treated with somatostatin analogues were evaluable. After three to six months of follow-up, 9/14 patients (64% 95%CI = [35%; 87%]) had remission of diarrhoea. This was significantly higher than a theoretical remission rate of 20% (p = 0.0004). There was a significant decrease of daily bowel movement from 6 to 2.5 per day (p = 0.002). Twelve/14 (85%) patients had incontinence at baseline vs 8/14 (57%) after three to six months of follow-up (p = 0.134). Three out of 14 patients (21%) had a severe adverse event; two patients had hypoglycaemia, and one had endocarditis due to an injection-site bacterial infection. Conclusion This study suggests that somatostatin analogues may benefit to patients with FAP and refractory diarrhoea. Approximately 20% of patients had severe adverse events, including hypoglycaemia.