Hæmorrhage Into the Upper Part of the Gastro‐intestinal Tract in Three Patients With Heritable Disorders of Connective Tissue

Abstract

Summary Three patients with rare, heritable disorders of connective tissue presented with hæmorrhage of the upper part of the gastro‐intestinal tract. The latter is not commonly described in Ehlers‐Danlos syndrome, but may be a presenting feature in Grönblad‐Strandberg syndrome. Two sisters with the former condition demonstrated a remarkably similar distribution of connective tissue defects, including multiple jejunal diverticula. Recognition of the underlying disorder in the latter syndrome depends upon competent ophthalmoscopic examination.

Gastrointestinal complications of the Ehlers-Danlos syndrome

“…This patient's stomach passed through an opening and became strangulated in the thorax. Hiatus hernia has been reported by Brombart, Coupatez, andLaurent (1952), by McKusick (1966), by Grant and Aldor (1967), and by Papp and Paley (1966). The liability to this abnormality is readily explained on a basis of the laxity of the tissues.…”

Gastrointestinal Complications of Ehlers-Danlos Syndrome

“…Although this complication resolved during childhood in the patients in the series, it was still troublesome in middle age in the two sisters mentioned by Grant and Aldor (1967).…”

“…This patient's stomach passed through an opening and became strangulated in the thorax. Hiatus hernia has been reported by Brombart, Coupatez, and Laurent (1952), by McKusick (1966), by Grant and Aldor (1967), and by Papp and Paley (1966). The liability to this abnormality is readily explained on a basis of the laxity of the tissues.…”

“…Grant and Aldor (1967) described two middle-aged sisters who both had a hiatus hernia and a peptic ulcer and several episodes of gastiointestinal haemorrhage. One sister underwent vagotomy and pyloroplasty, which was complicated by postoperative ileus and deep vein thrombosis.…”