Hereditary angioedema restricted to the digestive tract

Hereditary angioedema (HAE) is a rare autosomal disease. It is estimated to affect 1 in 10,000 people. Usually, it presents as recurrent attacks, which are dominated by severe subcutaneous or submucosal localised oedema, which are most likely to last for 2 to 5 days. The most frequent localisations of changes are extremities, abdomen, genitourinary track, face, skin, and upper respiratory tract. Around 20% of cases present without family history because they are de novo mutations [1].
A 28-year-old male presenting with nausea and vomiting with digestive and coffee ground contents and abdominal pain (mainly concentrated in the left iliac fossa) was admitted to the surgery department in August 2010. Exploratory laparotomy was performed, and no changes were found. Furthermore, upper G.I. endoscopy showed mild inflammation and oedema of the duodenal bulb.
In the following years the patient was readmitted due to similar symptoms several times a year. Family history was negative. Tumour markers levels were all the within normal rage. Subsquently the patient underwent computer tomography (CT) and 5 cm sigmoid stenosis was observed. Furthermore, colonoscopy revealed only haemorrhoids with no other pathologies. Thyroid hormones panel was performed with all results (TSH, FT3, FT4) within normal range. Lyme disease was excluded after clinical observation and negative test for antibodies to Borrelia burgdorferi. In December 2010 abdominal USG revealed fluid in the peritoneal cavity. Whipple disease was excluded with upper GI and duodenal biopsy histopathology and immunohistochemistry, including anti-Schiff stain. Daily excretion of porphyrin and its derivatives was measured and the results were within the normal range. Furthermore, abdominal tuberculosis (negative QuantiFERON-TB test) and iron deficiency anaemia were excluded. The next hospitalisation took place in July 2013. Vascular aetiology of the disorder was excluded following angio-CT examination and doppler USG. Due to positive hydrogen test, lactose intolerance was detected (lactase enzyme supplementation was introduced). Viral infections such as cytomegalia and toxoplasmosis were ruled out (negative IgM and IgG antibodies). Coeliac disease diagnosis was rejected (negative TTG antibodies). Repeated lowered phosphorus concentration confirmed chronic hypophosphataemia. In immunological testing lowered concentration of complement C4 was discovered. Hence, the patient was directed to the Immunology...


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