Hereditary Angioedema-Presenting as Recurrent Abdominal Pain

Abstract

We report a very rare case of HEREDITARY ANGIOEDEMA, presenting as recurrent acute abdomen. A 22 yr old Maharastrian male, law college student, got admitted for about fifteen times in previous three years for severe, acute onset, upper abdominal pain, vomiting, distention and acute exudative inflammatory ascites .The whole episode used to subside spontaneously within 2-3 days with or without conservative general management .He underwent various investigations from far basic type, to advanced and invasive type with each recurrence but without definitive diagnosis. He also underwent unnecessary appendectomy. The authors did a review of his previous records, but didn't find any definite surgical or medical cause for his acute abdomen. Obviously it was something rare. Authors did search for it in various surgical and medical literature and searched extensively on internet for rare causes of abdominal pain which guided them for further appropriate investigations and diagnose him as a case of HEREDITARYANGIOEDEMA ,as his clinical features and C1-INH,C3-C4 levels were strongly in favour of it . It goes without saying that the internet has become a standard accessory to conventional literature for cases with diagnostic dilemmas and for treatment options as well.

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India

“…Recurrent abdominal pain may be seen in 30%‐100% of patients with HAE 27,31,52 . It may be the initial presenting symptom in 40%‐80% of children 16,53 . In the presented study, one‐third of all patients reported having gastrointestinal symptoms.…”

“…27,31,52 It may be the initial presenting symptom in 40%-80% of children. 16,53 In the presented study, one-third of all patients reported having gastrointestinal symptoms. Patients with predominant abdominal symptoms may inadvertently be subjected to exploratory laparotomy.…”

“…[9][10][11][12] HAE has been reported infrequently from developing countries. [13][14][15][16][17][18][19][20][21] There are no long-term follow-up studies and no data on genetics of HAE from India. In this study, we report our experience with HAE over last 2 decades.…”

“…HAE is a potentially life-threatening medical condition. Depending on the C1-INH antigenic and functional levels, HAE has been classified into three different types.Published literature on HAE from developing countries is very limited [13][14][15][16][17][18][19][27][28][29]. To the best of our knowledge, no long-term follow-up studies are available from India, especially in children.Moreover, there are limited data on genetic profile of patients with HAE from developing countries including India.…”

Hereditary Angioedema in Sweden : a National Project

“…The angioedema in HAE is not believed to be pruritic, while histaminergic angioedema often can be pruritic (42,52). Left untreated, angioedema in HAE often lasts for up to three to five days (47,53,54). There are also a few reports of patients with HAE having recurrent neurological symptoms that have been proposed to be due to cerebral swelling (2, 55).…”