Haemophagocytic lymphohistiocytosis (HLH) is a rare immunological disorder more commonly seen in children than adults. It results from impairment in the functioning of natural killer and cytotoxic T cells leading to haemophagocytosis presenting with evidence of pancytopaenia, hypertriglyceridaemia and overactive inflammation with or without organ failure. We present a patient with acute massive gastrointestinal bleeding associated with HLH.

A 6 year old girl initially presented with fever and rash following treatment for group A streptococcus tonsillitis, later developing renal impairment. Investigations revealed tubulointerstitial nephritis on renal biopsy and low grade haemophagocytosis on bone marrow biopsy. Serological investigations to include soluble CD25 met the full diagnostic criteria for HLH.

The patient was treated with oral high dose steroids for HLH and tubulointerstitial nephritis. Her renal function failed to improve so she was admitted to commence peritoneal dialysis. During education prior to this she developed frank lower gastrointestinal bleeding requiring several blood transfusions. Initial urgent OGD and unprepped colonoscopy did not identify a bleeding source. CT angiogram showed evidence of hyperaemia in the ileocecal valve area. The patient continued to bleed and the surgeons and lead renal consultant were keen to avoid surgical resection if at all possible due to implications for prospects for future renal transplantation. Repeat colonoscopy following limited bowel preparation identified a large rolled age ulcer encircling the ileocaecal valve with a visible vessel with attached clot in the base. Three modalities of treatment were used to control bleeding – injection with adrenaline, clipping of the visible vessel and topical haemostatic therapy. A single biopsy was taken with caution adjacent to the ulcer. Histology of this ulcer showed a predominance of macrophages with phagocytosed red blood cells within in keeping with a HLH diagnosis. Haemostasis was secured with the treatment modalities used. At the time of writing the patient is awaiting definitive management of her underlying HLH by the oncology team and continues with supportive renal replacement therapy.

GI bleeding (GIB) associated with HLH is extremely rare. It is due to transmural lymphohistiocytic infiltration of macrophages resulting in localized ulcers or diffuse mucosal irritation in the gastrointestinal tract. Management of GIB is challenging, owing to difficulty in localizing mucosal bleeding and increased risk of recurrent bleeding upon intervention, and has extremely high mortality. Adult studies estimate a 12.2% rate of having a GIB as a complication of HLH, with an associated mortality of 66%¹. Early diagnosis of HLH and treatment is the key. Emergency surgery or angioembolization for GIB has been partially successful in a few patients. In our patient the stakes were high, due to the need to avoid emergency right hemi colectomy to preserve the possibility for later renal transplantation and it was agreed that an initial repeat attempt at multi modality endoscopic therapy was justified.

Reference

1. Patel M, Abrol R, Gandi R, et al. A rare presentation of GI bleeding associated with haemophagocytic lymphohistiocytosis. Am J Gastroenterol. 116:969.