Recurrent Attacks Of Abdominal Pain Research Articles

Case report of a child with nephronophthisis from South Africa

BackgroundNephronophthisis (NPHP) is an autosomal recessive disorder with a subset of patients presenting with extrarenal manifestations such as retinal degeneration, cerebella ataxia, liver fibrosis, skeletal abnormalities, cardiac malformations, and lung bronchiectasis. However, the involvement of other organ systems has also been documented. Extrarenal manifestations occur in approximately 10–20% of patients. In developed countries, it has been reported as one of the most common causes of monogenic chronic kidney failure (CKF) during the first three decades of life, with more than 25 genes associated with this condition. The current treatment options for managing NPHP include supportive care, management of complications, and kidney replacement therapy when necessary.The index patient is a 10-year-old Caucasian female who presented with recurrent attacks of abdominal pain. Her elder sister, TN, who was 17 years old, was diagnosed with CKF and noted to have persistently elevated liver enzymes (gamma-glutamyl transferase, alanine, and aspartate transaminases). Following genetic testing, her elder sister was shown to have Nephronophthisis Type 3, and a liver biopsy showed early fibrotic changes. Subsequent genetic testing confirmed the index patient as having NPHP Type 3. A kidney biopsy showed focal sclerosed glomeruli with patchy areas of tubular atrophy and related tubulointerstitial changes in keeping with NPHP. We present the first confirmatory case of NPHP from South Africa based on histopathology and genetic testing in a 10-year-old Caucasian female who presented with recurrent attacks of abdominal pain, whose elder sister also presented with CKF and early liver fibrosis, confirmed on biopsy and genetic testing.ConclusionIn low-middle-income countries, genetic testing should be undertaken whenever possible to confirm the diagnosis of NPHP, especially in those with a suggestive biopsy or if there is CKF of unknown aetiology with or without extra-renal manifestations.

A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria.

Porphyrias are rare metabolic disorders caused by inherited or acquired enzymatic defects in the heme biosynthetic pathway. They are grouped into acute hepatic porphyrias and photocutaneous porphyrias. Acute intermittent porphyria, the most prevalent subtype of acute hepatic porphyrias, is caused by a mutation in the hydroxymethylbilane synthase gene. In this work, a case of a 13 year-old Indian female presenting with multi-organ involvement (Neurological: episodic seizures, behavioral abnormalities, acute onset progressive flaccid-motor quadriparesis, multiple cranial nerve palsies, respiratory paralysis, dysautonomia, and posterior reversible encephalopathy syndrome; Gastrointestinal: recurrent attacks of abdominal pain, nausea/vomiting, isolated transaminitis, and acute pancreatitis; and Renal: metabolic alkalosis and refractory dyselectrolytemia) which resulted in significant diagnostic dilemmas. She was eventually diagnosed as a case of acute intermittent porphyria harboring a novel hydroxymethylbilane synthase gene mutation (p.Arg173Trp).

Familial Mediterranean fever with pseudo-septic arthritis: A case report and review of the literature.

Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease resulting from mutations of the MEFV gene. The disease is characterised by recurrent attacks of abdominal pain and fever. Most FMF patients develop arthritis at some point in their life usually manifesting as self-limiting monoarthritis. On very rare occasions, arthritis in FMF can mimic septic arthritis (pseudo-septic arthritis) with very similar clinical and laboratory findings. We report a case of a young male patient who presented with recurrent attacks of prolonged monoarthritis. For 2 years, he had undergone multiple admissions and operations for drainage of suspected septic joints. The synovial aspiration showed culture-negative pus with very high synovial white blood cell counts highly suggestive of septic arthritis. The patient was later found to have FMF based on homozygous M694V mutation of the MEFV gene. He was treated with colchicine monotherapy with a quick improvement of arthritis and later good control of his disease. The literature review showed very few case reports with similar presentations, most of which responded well to colchicine. FMF can mimic septic arthritis resulting in unnecessary expensive and invasive interventions and prolonged courses of antibiotics. Pseudo-septic arthritis is usually associated with M694V homozygous mutation and can complicate FMF at any time throughout the disease course. It is important to consider FMF in the differential diagnosis of septic arthritis, particularly with a family history of FMF and in patients from communities with a high prevalence of MEFV gene mutation.

Clinical and genetic characterization of familial Mediterranean fever among a cohort of Egyptian patients.

IntroductionFamilial Mediterranean fever (FMF) is an autosomal recessive disease with an autoinflammatory nature. It affects mainly Turkish, Armenian, Arab, and Jewish people. The clinical presentation and the development of complication as amyloidosis. Early diagnosis and predilection of disease severity according to gene mutation facilitates adequate treatment and disease control.AimTo our knowledge, few studies were done to evaluate FMF in lower Egypt.Material and methodsThis is a prospective study that was carried out at Kafrelsheikh University Hospital Outpatient Clinic between March 2019 and February 2020. We recruited all patients who came to our outpatient clinic with symptoms suggestive of FMF (recurrent attacks of abdominal pain and fever), and diagnosis of FMF was confirmed by gene study. One hundred and nine patients were included; however, 9 patients refused to participate in the study, so final analysis was done for 100 patients only. Patients also underwent abdominal ultrasound examination for measurement of the spleen longitudinal diameter.ResultsE148Q mutant allele was the most encountered mutation in our studied patients at Kafrelsheikh, with a frequency of 31%; the number of attacks was greater in patients with positive family history and in homozygous patients. Most patients required a dose between 1.5 and 3 mg/day.ConclusionsPatients with positive family history and those with homozygous mutation have more attacks with greater severity and higher amyloid deposition. E148Q mutant allele was the most commonly encountered in the studied patients, with a frequency of 31%, followed by M6801 (G/A), which was associated with the highest amyloid A level.

Acute brucellosis associated with isolated splenic and left gastric artery vasculitis and acute ischemic bowel infarction. A systematic review of the most recent cases

Brucellosis is a multisystem bacterial zoonosis caused by Gram-negative bacteria Brucella spp. Ingestion of infected food products, direct contact with an infected animal, or inhalation of aerosols are all ways for germs to spread from animals to humans. Intestinal vasculitis with gangrene due to brucellosis has rarely been reported. We report a 62-year-old male patient presenting with acute onset of recurrent attacks of abdominal pain, remittent fever, malaise, and weight loss, which were followed by severe left hypochondrium abdominal pain with rigidity and signs of acute abdomen. Brucellosis was clinically suspected and confirmed by an enzyme-linked immunosorbent assay against the Brucella melitensis species. An abdominal CT scan revealed isolated splenic and left gastric artery vasculitis, leading to acute bowel ischemia, bowel infarction and gangrenous jejunal bowel segment. Histopathological examination of the resected gangrenous bowel segment revealed leucocytoclastic vasculitis. The patient was successfully treated with a standardized antimicrobial therapy for brucellosis and a short course of steroids with a complete resolution of the symptoms and signs. The case is discussed and the literature is reviewed.

A Diagnostic Dilemma for Acute Abdomen: Sclerosing Encapsulating Peritonitis (Abdominal Cocoon Syndrome); A Retrospective Cohort Study.

Sclerosing encapsulating peritonitis (SEP) is a rare cause of acute abdomen and can be easily misdiagnosed. Preoperative diagnosis of the SEP can be performed with preoperative imaging studies. We aimed to evaluate the clinical features of ileus cases who were diagnosed with primary or secondary SEP in the last five years. This retrospective cohort study evaluated the patients who were admitted with ileus or acute abdomen symptoms to the Emergency Department of Elazığ Training and Research Hospital and underwent surgery by the same surgical team of General Surgery Department between January 2014 and January 2019. Patients who were diagnosed with primary or secondary SEP were included. The demographic data, clinical presentation, whether the disease was primary or secondary, the treatment options performed and mortality rates were evaluated. SEP was observed in 11 of the patients. Ten patients underwent surgery (90.9%), and one patient (9.1%) was treated conservatively. Of the patients, six had secondary SEP (54.5%) and five had primary SEP (45.5%). In total, five patients were female (45.5%) and six were male (54.5%). The median age of the patients was 35 years (24-69). The median age of the patients with primary disease was 48 (29-69) years, while the median age of patients with secondary disease was 34.5 (24-64) years. One patient expired in the postoperative 8th hour. SEP should be considered in the case of recurrent abdominal pain attacks, especially in patients undergoing peritoneal dialysis, and it should be known that the mortality rate is high when misdiagnosed.

A report of a case: unusual portosystemic shunt in a hernia sac who has portal hypertension due to cirrhosis

Variations in the origin and branching pattern of splenic vein (SV) are relatively rare and asymptomatic. We describe here only the first case in the literature of accessory SV in hernia sac due to previous operation and increased portal pressure because of cirrhosis. This report describes a 66-year-old female, with a history of total abdominal hysterectomy (TAH) due to uterine myomatosis, signs of cirrhosis onset due to hepatitis B, who had been presented with recurrent abdominal pain attacks. Ultrasonography (USG) findings were nothing pathologic except a gallstone in the gallbladder without cholecystitis signs. Incisional hernia was found to contain an accessory SV in the hernia sac arising from a branch of main SV in the hilum, ongoing to the subcutaneous fat tissue and draining to the superficial femoral vein on computed tomography (CT). Videoendoscopy showed wide gastritis and multiple ulcers. The patient's symptoms diminished with proton pump inhibitor (PPI) treatment and they then underwent a hernia repair surgery with Prolene mesh patch as elective surgery. A thorough knowledge of the normal anatomy, most frequent variations and congenital or acquired anomalies of the spleno-portal axis has great importance for hepatopancreaticobiliary and emergency surgical procedures. It is, therefore, essential for preoperative evaluation of the anatomical details of the spleno-portal venous axis and should be evaluated with imaging methods in detail.

A112 ANGIOEDEMA,A RARE YET AN IMPORTANT CAUSE OF ABDOMINAL PAIN. A CASE STUDY AND LITERATURE REVIEW

Abstract Background Abdominal pain is a common gastroenterological symptom with an extensive deferential diagnoses. Angioedema is an important cause to remember after the more common causes have been excluded.It is caused by a deficiency in the inhibitor of the first component of classical complement pathway and is divided into hereditary or acquired.Acquired angioedema is associated with autoimmune or lymphoproliferative neoplasms.The clinical features of both include recurrent,self-limiting and circumscribed edema affecting the subcutaneous tissue of the upper respiratory airways and gastrointestinal tract. Aims We describe an interesting case of acquired angioedema presenting with recurrent abdominal pain. We also systematically review the current literature on this rare entity. Methods A search of electronic databases was performed inclusive to September 2019, for all studies and reviews of patients with acquired angioedema manifested as recurrent attacks of abdominal pain. Results: Case Report: 65 year old lady ho has an at least 2 year long history of abdominal pain and bloating associated on some occasions with nausea and vomiting.She presented to our emergency department in August,2018 with a day history of severe generalized abdominal pain and was found to have circumferential thickening,edema with mucosal hyperenhancement involving the distal segment of the small bowel.Splenomegaly was noted on that study.A double balloon enteroscopy was planned,but ultimately cancelled as her ileitis had resolved.The patient was discharged home as her pain resolved with conservative management which included intravenous fluid, pain medications and antiemetics.She then represented to the hospital on September 16, 2019 severe abdominal pain and throat tightness associated with shortness of breath. Again,noted was an extremely short segment of ileum with mucosal edema and hyperenhancement which resolved on a repeat CT scan done during that admission on September 18th, 2019.In light of the patient’s symptoms,CT scan findings,progressive anemia, thrombocytopenia and splenomegaly. It was thought that her abdominal pain is related to secondary to angioedema driven by a lymphoproliferative process as evident by the splenomegaly and worsening cytopenia. A bone marrow was done which revealed clonal B, so the diagnosis of lymphoma was made. The patient’s C1 esterase was 0.2 with reduced functional activity.CH50 less 10 perecent. A diagnosis of acquired angioedema was made and the patient was started on BERINERT 3000 IU SQ every three days with 1500 IU for break through with significant improvement in the frequency and severity of abdominal pain episodes. Conclusions Acquired angioedema is to be considered as a cause of recurrent abdominal pain in a patient with a lymphoproliferative malignancy after common causes and etiologies have been ruled out. Funding Agencies None

What's New in Diagnosing Diverticular Disease.

In this session different issues for the diagnosis of diverticular disease (DD) were considered including "Biomarkers", "Computer tomography", "Ultrasonography in detecting acute diverticulitis", "Endoscopy" and "The DICA classification: a new predictive tool in managing diverticular disease". Most patients affected by DD suffer from recurrent attacks of abdominal pain without evidence of an active inflammatory process, causing a difficult differential diagnosis with other intestinal conditions. Several biomarkers, serological, fecal, urinary and genetic were considered, but recent studies confirmed that only CRP and fecal calprotectin are matching with the criteria for an ideal biomarker for DD. Colonoscopy still remains the gold standard for the diagnosis of DD, playing a key role in many clinical settings, such as colonic diverticular bleeding, or to differentiate inflammatory bowel disease (IBD) and segmental colitis associated with diverticulosis (SCAD); Moreover, in 2015 has been developed the DICA (Diverticular Inflammation and Complication Assessment) endoscopic classification that considers 10 different parameters, each one with a score, and the sum of items scores represents the severity of the disease; in this way the endoscopic exam would be able to predict the outcome of DD for each patient. On the other hand, computer tomography (CT) is the gold standard for acute diverticulitis (AD) with an excellent sensitivity and specificity; recently, metanalysis of prospective studies have shown that intestinal ultrasonography (IUS) and CT have the same sensitivity for the diagnosis of an AD and the advantage is that IUS is less expensive, non-invasive and easily accessible.

Recurrent Abdominal Pain Attacks; Hereditary Angioedema

Recurrent Abdominal Pain Attacks; Hereditary Angioedema

Appendiceal endometriosis as a cause of ileus in pregnancy

Endometriosis is the presence of ectopic endometrial tissue outside the uterine cavity. It is a well-known cause of chronic pelvic pain and infertility in women. Endometriosis of the appendix is rare and may present with acute or chronic abdominal pain. Preoperative diagnosis is difficult. The definitive diagnosis is usually established following histopathological examination of the appendix. The authors report a case of ileus at the ground of adhesions formed due to appendiceal endometriosis clinically presented with recurrent attacks of abdominal pain in the eight month of pregnancy after laparoscopic removal of the ovarian endometriosis.

Abdominal pain and fever in a patient with familial periodic fever: an extremely rare mutation of the TNF receptor superfamily member 1A gene

Periodic fever syndromes (PFSs) are a clinically inhomogeneous group of diseases based on peculiar genetic mutations. PFSs have to be suspected in young patients presenting with recurrent attacks of abdominal pain, skin rashes, arthritis, myalgia and fever as soon as more prevalent diseases have been excluded. An unconsidered hypothesis of PFSs may lead in delaying the diagnosis and unnecessary medical and surgical treatments. In this article, we described the case of a young man presented to our attention due to recurrent abdominal pain and fever caused by TNF-receptor-associated periodic syndrome (TRAPS) sustained by the TNFRSF1A gene mutation.

RELATIONSHIP OF SERUM DIPEPTIDYL PEPTIDASE-IV ACTIVITY AND ANTI-CASEIN ANTIBODIES TO GASTROINTESTINAL SYMPTOMS AMONG CHILDREN WITH AUTISM SPECTRUM DISORDER: AN EGYPTIAN STUDY

Objectives: The objectives of the study were to assess serum dipeptidyl peptidase-IV (DPP-IV) activity in autistic children suffering from severe gastrointestinal (GI) disorder and to examine the hypothesis that there is a link between DPP-IV activity in serum and GI disorder in a subgroup of children with autism spectrum disorder (ASD).Subjects and Methods: Serum levels of casein antibodies and DPP-IV enzyme activity from 40 autistic children with chronic GI symptoms, and 40 of age-matched children without autism or gastrointestinal (GI) symptoms were assayed using enzyme-linked immunosorbent assay kits.Results: In comparison with controls, developmental milestones were delayed among autistic children. The serum DPP-IV activity was significantly lower in the studied patients (p<0.05), while the mean serum levels of casein antibodies were statistically significantly higher in the studied patients (p<0.01). Multiple logistic regression analysis recorded significant association between the high serum level of antibodies to casein, food selectivity and recurrent attacks of abdominal pain (p<0.05), while the low serum DPP-IV enzyme activity was associated with recurrent attacks of abdominal pain in the studied patients with a prediction of 95% (p<0.05).Conclusions: Serum levels of casein antibodies were higher in children with ASD, and maybe contributes to their abdominal pain, and food selectivity. Serum DPP-IV enzyme activity was lower and associated with recurrent attacks of abdominal pain in the studied patients. They may benefit from a supplemental digestive enzyme formula.

Mutations of familial Mediterranean fever in Syrian patients and controls: Evidence for high carrier rate

BackgroundFamilial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in Mediterranean FeVer (MEFV) gene and is characterized by recurrent attacks of abdominal pain, synovitis and pleuritis. Methods and resultsTo determine the impact of mutations in MEFV on the Syrian population, we ascertained the distribution of MEFV mutations in 358 healthy controls and 302 FMF patients from Syria. Mutation detection allowed the identification of 14 different MEFV mutations in the healthy controls. The most dominant mutations detected were E148Q (7.68%), V726A (2.5%), M694I (1.68%), R408Q (1.54%), P369S (1.54%), and M694V (1.12%). In patients, M694V is the most common mutation identified in the Syrian FMF patients (24.1%), followed by E148Q (13.5%), V726A (11.4%), M680I(G/C) (10.3%), and M694I (8.2%). Conclusionsour data show that the carrier rate in healthy Syrian individuals is at least 1:3.3 (30.2%) and thus one of the highest and we confirm that some of the mentioned mutations and probably further genetic variants have variable penetrance or that FMF is underdiagnosed in the Syrian population.

Response to Letter to Editor: the Effect of Oral Psyllium Herbal Laxative Powder on Prevention of Hemorrhoids and Anal Fissure During Pregnancy: A Randomized Double Blind Clinical Trial

Introduction Pneumatosis intestinalis (PI) is a broad term that describes the presence of gas in the bowel walls. The colon is affected in 36% of cases. Eosinophilic colitis (EC) is a rare form of colitis that is characterized mainly by eosinophilia in blood and affected tissues. Although eosinophilic colitis responds well to conservative treatment, yet the association of PI could be an indication of emergent surgery. Case Presentation A 48-year-old female patient with a history of recurrent attacks of abdominal pain and distention that did not respond to conservative treatment, was hospitalized and investigated thoroughly. The result of abdominal computed tomography (CT) scan indicated the presence of pneumatosis coli. Based on the findings of the CT scan, colonoscopy was done revealing hyperemic and hypertrophied mucosa at the hepatic flexure, from which multiple punch biopsies were taken for histopathological assessment. The pathological examination of these biopsies detected a diffuse active colitis of moderate severity with excess eosinophils (10 - 15/HPF), which is consistent with the diagnosis of EC. The patient improved dramatically on fluid therapy and antibiotics with complete resolution of pneumatosis coli in the follow up CT scan. However, the patient developed a severe relapse of symptoms once oral intake was resumed and this time the conservative treatment failed to improve the condition. Surgery was indicated and laparoscopic right hemicolectomy with primary anastomosis and covering ileostomy was done. The patient was free of symptoms after the operation and her postoperative course was uneventful with no complications encountered. Conclusions Eosinophilic colitis usually has a good prognosis, however its association with pneumatosis coli could reflect a serious damage to the colonic mucosa. Although eosinophilic colitis responds well to medical treatment, yet in certain cases where clinical signs are evident and pneumatosis coli is present, surgical intervention is the treatment of choice.

Letter to Editor Concerning the Article: The Effect of Oral Psyllium Herbal Laxative Powder in Prevention of Hemorrhoids and Anal Fissure During Pregnancy

Introduction Pneumatosis intestinalis (PI) is a broad term that describes the presence of gas in the bowel walls. The colon is affected in 36% of cases. Eosinophilic colitis (EC) is a rare form of colitis that is characterized mainly by eosinophilia in blood and affected tissues. Although eosinophilic colitis responds well to conservative treatment, yet the association of PI could be an indication of emergent surgery. Case Presentation A 48-year-old female patient with a history of recurrent attacks of abdominal pain and distention that did not respond to conservative treatment, was hospitalized and investigated thoroughly. The result of abdominal computed tomography (CT) scan indicated the presence of pneumatosis coli. Based on the findings of the CT scan, colonoscopy was done revealing hyperemic and hypertrophied mucosa at the hepatic flexure, from which multiple punch biopsies were taken for histopathological assessment. The pathological examination of these biopsies detected a diffuse active colitis of moderate severity with excess eosinophils (10 - 15/HPF), which is consistent with the diagnosis of EC. The patient improved dramatically on fluid therapy and antibiotics with complete resolution of pneumatosis coli in the follow up CT scan. However, the patient developed a severe relapse of symptoms once oral intake was resumed and this time the conservative treatment failed to improve the condition. Surgery was indicated and laparoscopic right hemicolectomy with primary anastomosis and covering ileostomy was done. The patient was free of symptoms after the operation and her postoperative course was uneventful with no complications encountered. Conclusions Eosinophilic colitis usually has a good prognosis, however its association with pneumatosis coli could reflect a serious damage to the colonic mucosa. Although eosinophilic colitis responds well to medical treatment, yet in certain cases where clinical signs are evident and pneumatosis coli is present, surgical intervention is the treatment of choice.

Problems in Colorectal Stapler Use

Introduction Pneumatosis intestinalis (PI) is a broad term that describes the presence of gas in the bowel walls. The colon is affected in 36% of cases. Eosinophilic colitis (EC) is a rare form of colitis that is characterized mainly by eosinophilia in blood and affected tissues. Although eosinophilic colitis responds well to conservative treatment, yet the association of PI could be an indication of emergent surgery. Case Presentation A 48-year-old female patient with a history of recurrent attacks of abdominal pain and distention that did not respond to conservative treatment, was hospitalized and investigated thoroughly. The result of abdominal computed tomography (CT) scan indicated the presence of pneumatosis coli. Based on the findings of the CT scan, colonoscopy was done revealing hyperemic and hypertrophied mucosa at the hepatic flexure, from which multiple punch biopsies were taken for histopathological assessment. The pathological examination of these biopsies detected a diffuse active colitis of moderate severity with excess eosinophils (10 - 15/HPF), which is consistent with the diagnosis of EC. The patient improved dramatically on fluid therapy and antibiotics with complete resolution of pneumatosis coli in the follow up CT scan. However, the patient developed a severe relapse of symptoms once oral intake was resumed and this time the conservative treatment failed to improve the condition. Surgery was indicated and laparoscopic right hemicolectomy with primary anastomosis and covering ileostomy was done. The patient was free of symptoms after the operation and her postoperative course was uneventful with no complications encountered. Conclusions Eosinophilic colitis usually has a good prognosis, however its association with pneumatosis coli could reflect a serious damage to the colonic mucosa. Although eosinophilic colitis responds well to medical treatment, yet in certain cases where clinical signs are evident and pneumatosis coli is present, surgical intervention is the treatment of choice.

Pneumatosis Coli Secondary to Eosinophilic Colitis: Report of a Refractory Case

Introduction Pneumatosis intestinalis (PI) is a broad term that describes the presence of gas in the bowel walls. The colon is affected in 36% of cases. Eosinophilic colitis (EC) is a rare form of colitis that is characterized mainly by eosinophilia in blood and affected tissues. Although eosinophilic colitis responds well to conservative treatment, yet the association of PI could be an indication of emergent surgery. Case Presentation A 48-year-old female patient with a history of recurrent attacks of abdominal pain and distention that did not respond to conservative treatment, was hospitalized and investigated thoroughly. The result of abdominal computed tomography (CT) scan indicated the presence of pneumatosis coli. Based on the findings of the CT scan, colonoscopy was done revealing hyperemic and hypertrophied mucosa at the hepatic flexure, from which multiple punch biopsies were taken for histopathological assessment. The pathological examination of these biopsies detected a diffuse active colitis of moderate severity with excess eosinophils (10 - 15/HPF), which is consistent with the diagnosis of EC. The patient improved dramatically on fluid therapy and antibiotics with complete resolution of pneumatosis coli in the follow up CT scan. However, the patient developed a severe relapse of symptoms once oral intake was resumed and this time the conservative treatment failed to improve the condition. Surgery was indicated and laparoscopic right hemicolectomy with primary anastomosis and covering ileostomy was done. The patient was free of symptoms after the operation and her postoperative course was uneventful with no complications encountered. Conclusions Eosinophilic colitis usually has a good prognosis, however its association with pneumatosis coli could reflect a serious damage to the colonic mucosa. Although eosinophilic colitis responds well to medical treatment, yet in certain cases where clinical signs are evident and pneumatosis coli is present, surgical intervention is the treatment of choice.

Efficacy of Omalizumab in a Patient with Angioedema Clinically Resembling a Hereditary Angioedema.

Dear Editor: A 20-year-old man was referred to our allergy and immunology department with complaints of recurring angioedema attacks, lasting 48~96 h, on his lips, eyes, and face, as well as swelling of the extremities and testicles during the last 1 year. Regular use of antihistamine and steroid drugs was generally ineffective against the frequency and severity of the angioedema attacks. He experienced recurrent abdominal pain attacks during the evaluation period. He was hospitalized in another center with a prediagnosis of familial Mediterranean fever; however, that diagnosis was excluded later. Urticarial lesions were not observed during the angioedema attacks. He did not have a history of drug or food allergy, and no specific family history for angioedema was reported. A detailed evaluation for arthritis and rheumatologic disorder was done but no specific findings were found. Furthermore, rheumatologic markers were negative (IRB No. 1491-21-16/1539). Routine laboratory tests for the management of chronic urticaria-angioedema and for anti-nuclear antibody, rheumatoid factor, anti-cyclic citrullinated peptide antibodies, C3, and C4 were within the reference limits. The total immunoglobulin E (IgE) value was 213 IU/ml, and the C4 levels during the attacks were normal. However, C1 esterase inhibitor was measured to be 28.3 mg/dl (reference, 32~39 mg/dl), and hereditary angioedema (HAE) was clinically considered. Danazol treatment up to 400~600 mg/day was started; however, no significant benefit was observed. As the 1,000 U C1 esterase inhibitor administered during the attacks (Cetor, 500 U; Sanquin, Amsterdam, The Netherlands) was ineffective, the diagnosis of HAE was excluded. Because the urticarial complaints started in addition to the angioedema complaints, our patient received 300 mg omalizumab (Xolair 150 mg; Novartis Pharmaceuticals, Basel, Switzerland) subcutaneously every 4 weeks according to conventional asthma treatment protocols. He was treated with omalizumab for 6 months. His angioedema attacks ceased completely within 2 weeks after the start of this treatment. Except for the very short period for the formal procedures required for the procurement of the drug, he had no other complaints during the 6 months follow-up. In randomized, placebo-controlled trials, omalizumab was shown to have excellent efficacy in chronic spontaneous urticaria1. A growing number of case reports and series suggest that anti-IgE treatment may also be beneficial for patients with physical urticarias and chronic angioedema. Recently, omalizumab treatment for inducing and maintaining long-term remission in patients with severe chronic urticaria has been demonstrated2. Unfortunately, for such disorders with complex and unclear etiology, no randomized placebo-controlled trial has been performed yet3. The mechanism of omalizumab activity in angioedema is currently not well defined. However, several mechanism may be considered. Even if the pathogenesis of angioedema in the present case may not be directly mediated by IgE, omalizumab may be effective through an unidentified and indirect anti-inflammatory manner. Sayama et al.4 reported that the stimulation of high-affinity IgE receptor (FceRI) in human umbilical cord mast cells causes substantial change in the expression of many genes, including Interleukin-11 (IL-11), and at least 30 other cytokines and chemokines and several adhesion molecules involved in potential interactions with T cells, B cells, or dendritic cells. Another work, in which the anti-inflammatory activity of omalizumab was mediated, has provided evidence showing the efficacy of this drug in idiopathic angioedema through eosinophil apoptosis induction and downregulation of the inflammatory cytokines IL-2 and IL-135. In conclusion, it seems that therapeutic efficacy spectrum of anti-IgE treatment comprises many allergic disorders with unknown etiology, including angioedema.

An Unusual Clinical Presentation of Amyloidosis: Auricular Concha Involvement

The most serious complication in familial Mediterranean fever (FMF) is the development of amyloidosis. Amyloid deposition can be systemic or organ-specific. A 31-year-old Turkish man was admitted with upper gastrointestinal bleeding and hematuria. He had recurrent attacks of abdominal pain and fever since early childhood. Nine years …