This 52-year-old lady presented in 2001 at a GI clinic complaining of occasional abdominal cramps, which could be severe and prolonged. Her symptoms were not associated with diarrhoea or constipation. Weight loss of 4.5 kg over 4 months was noted. Coeliac disease was excluded and a diagnosis of severe irritable bowel was made.
In January 2002 she returned to the clinic with further weight loss (total 8 kg), cyclical symptoms of diarrhoea lasting 35 days and occasional flushing. Neuroendocrine tumour markers were measures. Urinary 5HIAA was grossly elevated at 637 (RR1047), 5HT 12.05(RR0.301.30), pancreastatin (PST) >1000 ng/l (RR<50) and neurokinin A (NKA), an independent indicator of poor prognosis was 350 ng/l (RR<20). CT and Octreotide scintigraphy showed extensive hepatic metastases with para-aortic and iliac lymphadenopathy. No primary tumour was identified. The surgical team considered hepatic disease to be inoperable.
Treatment with somatostatin analogues was commenced. Symptoms continued, urinary 5HIAA remained grossly elevated and PST and NKA continued to rise dramatically. The somatostatin analogue dose was increases on two occasions with no improvement. Interferon α, concomitant with somatostatin analogues, was commenced, 1.5 MU 3 times weekly increasing to 9 MU 3 times weekly. Within 2 months symptoms eased and this regime was continued. By 6 months symptoms had abated. Urinary 5HIAA settled around the upper limit of normal and 5HT returned within the reference range after 18 months. Circulating NKA was secured below 100 ng/l within a year and has been maintained 4080 ng/l thereafter. Both PST and Chromogranin A have remained >10 fold reference range. Scans show stable/reduced disease.
Due to symptoms of migraine and fatigue the dose of interferon has been reduced from time to time and the drug has been withdrawn for short periods. This has resulted in an immediate rise in NKA. Survival, post diagnosis now approaches 7 years.
25 - 29 Apr 2009
European Society of Endocrinology