Recurrent Attacks Of Abdominal Pain Research Articles

Exceptional stroke-like episodes in a patient with type I autosomal angioedema

We report on a man with type I hereditary angioedema (HAE) who presented with repeated transient neurologic deficits, totally regressive after a specific C1-inhibitor (C1 INH) injection. Hereditary angioedema, first described in 1888,1 is an autosomal dominant disease, affecting up to 1/50,000 persons, defined in type I as a C1 INH deficiency.2 It is clinically characterized by recurrent edematous crisis at various body sites: mainly relapsing skin swellings, abdominal pain attacks, and life-threatening upper airway obstructions. Neurologic manifestations are exceptionally reported in this affection.3 ### Case report. A 61-year-old man was admitted for the sudden onset of a right sensory-motor deficit. Since childhood, he had had serpiginous erythema and recurrent abdominal pain attacks. The diagnosis of HAE type I was established when he was 14 years old. The disease was still active in 2008 (2 abdominal or respiratory attacks during 3 or 4 days/month), despite a high dose of prophylactic treatment with danazol (600 mg/day). He was an active smoker (40 packs/year) and had a dyslipidemia probably due to danazol. He had no arterial hypertension. At admission, the deficit was …

Many faces of angioedema

Angioedema of the intestinal tract is an infrequent but well-described cause of abdominal pain that can occur because of inherited, acquired, allergic, or drug-induced causes. Hereditary angioedema (HAE) is a genetic disorder that causes recurrent attacks of severe edema of various body parts, including the intestinal tract. Moderate to severe abdominal pain occurs in 43-93% of such attacks due to intestinal edema. Laryngeal edema is a potentially life-threatening manifestation. Failure to recognize and diagnose HAE or other causes of intestinal angioedema can lead to years of delay in diagnosis, and in the case of HAE, often to unnecessary abdominal surgeries. Recognizing the typical history of recurrent attacks of abdominal pain, oropharyngeal/laryngeal angioedema or cutaneous angioedema, family history of similar symptoms, association of attacks with stress or menses, and exacerbation of attacks after administration of estrogens or angiotensin-converting enzyme inhibitors will increase diagnostic accuracy. Interdisciplinary treatment is often necessary after the diagnosis of HAE, first with acute management in the emergency room or the intensive care unit, followed by either drug prophylaxis against future attacks using a C1-esterase inhibitor concentrate or attenuated androgens and discontinuation of medications known to trigger attacks. Newer drugs approved for treatment of acute attacks may have future roles in the prevention of attacks if further studies support their efficacy. Gastroenterologists in particular should maintain a high index of suspicion for the possibility of HAE or other causes of intestinal angioedema in patients with a history of recurrent abdominal pain.

Multiseptate gallbladder as a cause of recurrent abdominal pain in a child

Dear Editor, The congenital malformations of the gallbladder are classified as anomalous forms, abnormal position, and absence. Multiseptate gallbladder is a quite rare condition, which was first described by Simon and Tandon in 1963 [1-3]. A 10-year-old female was admitted to the hospital with recurrent attacks of abdominal pain for about one year duration. There was no history of sickle cell disease or any other blood disorders. Physical examination revealed a healthy young girl with no other abnormalities. Laboratory tests showed leucocytosis and a slight increase in transaminases and total bilirubin. Other laboratory tests were normal. Abdominal ultrasound revealed a multiseptate gallbladder with normal wall thickness, which resulting in a multi-compartment feature (Figure 1). No calculi were present. There were no gallstones or dilatation of the intrahepatic and extrahepatic bile ducts. On the basis of ultrasound study, a diagnosis of multiseptate gallbladder was made. The patient was treated conservatively. After the first week of treatment, she had complete relief of abdominal pain and her laboratory test results returned to normal. Follow-up sonography was performed and no change was found in the sonographic signs. Multiseptate gallbladder is a quite rare condition, which commonly causes symptoms suggestive of cholecystitis. Most patients are female adults though it can occur in children and men. Previously reported multiseptate gallbladder cases have been characterised by the presence of multiple thin septa dividing the gallbladder lumen into various sized chambers, often with a honeycomb appearance. Recurrent abdominal pain in childhood due to gallbladder disease is often misinterpreted as intestinal and genitourinary pathologies. Cholelithiasis and cholecystitis are very rare before puberty. If it is present, it is mostly related to bacterial and parasitic infections, hemolytic conditions and chronic gastrointestinal diseases [3-6]. The mechanism of pain in these patients is not well known. The symptoms are probably due to increased intraluminal pressure of the gallbladder and the mechanical effect of septa impairing normal bile flow. Biliary calculi are usually absent in multiseptate gall-bladder while choledochal cysts have been associated [1, 2, 4, 5]. In conclusion, gallbladder abnormalities, although rare should always be considered in the differential diagnosis of children presenting with recurrent attacks of abdominal pain, and abdominal ultrasound should form part of their investigations.

Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype–phenotype correlation

Familial Mediterranean fever is an autosomal recessive disorder characterized by recurrent attacks of abdominal pain, synovitis and pleuritis. MEFV gene mutations are responsible for the disease. The objective of this study was to identify the frequency and distribution of 12 MEFV mutations in 153 Syrian patients and perform a genotype-phenotype correlation in the patients' cohort. Of the 153 unrelated patients investigated, 97 (63.4%) had at least one mutation. The most frequent mutation was M694V (36.5%), followed by V726A (15.2%), E148Q (14.5%), M680I (G/C) (13.2%), and M694I (10.2%) mutations. Rare mutations (R761H, A744S, M680I (G/A), K695R, P369S, F479L and I692del) were also detected in the patients. M694V was associated with the severe form of the disease. The identification of a significant number of FMF patients with no mutations or only one known mutation identified indicates the presence of new mutations in the MEFV gene which will be investigated in the future.

Recurrent Autoimmune Pancreatitis in a 10‐Year‐Old Boy

Recurrent Autoimmune Pancreatitis in a 10‐Year‐Old Boy

Malnutrition Due to Sub-occlusive Intestinal Syndrome Secondary to Extraluminal Jejunal Leiomyoma

Leimyomas comprise approximately one fourth of benign gastrointestinal tumors and are the most common symptomatic benign tumors of the small bowel. Diagnosis is difficult because of their rarity and the abscence of specifc symptoms. We present a case of malnutrition due to subocclusive intestinal syndrome secondary to extraluminal jejunal leiomyoma. The patient experienced recurrent attacks of abdominal pain and distention after ingestion of food, with significant weight loss. Abdominal CT scan showed a small intestine compressive tumoral mass. Laparotomy revealed a proximal jejunal tumor. The tumor was resected and bowel continuity was restored. Histopathological study showed jejunal leiomyoma. Usually, intestinal leiomyoma presents with gastrointestinal bleeding, or small bowel occlusion; however, abdominal pain after ingestion of food, weight loss and malnutrition constitute an exceptional presentation. We have not found another similar case published in the revised literature. Epidemiology, clinical presentation, diagnosis and surgical manegement of small intestinal leimyoma are reviewed.

Identification of Three Novel Substitutions in the Erythroid Promoter of the HMBS Gene: A New Erythroid Variant of Human Acute Intermittent Porphyria?

Porphyrias are inherited disorders in the biosynthesis of heme. Acute intermittent porphyria (AIP), the most common form, is autosomal dominant and it is characterized by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances. AIP is caused by molecular defects in the hydroxymethylbilane synthase gene (HMBS) causing a partial deficiency of the third enzyme of the heme biosynthetic pathway. This gene maps to chromosome 11q23.2 with a total of 15 exons. Two distinct promoters direct the synthesis of housekeeping and erythroid specific mRNAs by alternative splicing. The housekeeping promoter is located upstream the exon 1 while the erythroid promoter include a portion of intron 1, the exon 2 and the intron 2. The exon 1 and the exons 3 to 15 generate the housekeeping mRNA while the exons 2 to 15 generate the erythroid mRNA giving rise to the housekeeping HMBS isoform and to the erythroid HMBS isoform respectively. In the classic form of AIP, both the housekeeping and the erythroid HMBS isoforms are deficient since the must common molecular defects involve the common region of the gene from exon 3 to exon 15. Approximately 5% of AIP patients have normal levels of the erythroid HMBS isoform and defects in the housekeeping promoter or in the exon 1 which is specific for the housekeeping HMBS isoform, causing the ‘non-erythroid variant’ of AIP. So far no mutations are known in the erythroid promoter. In this study we searched for molecular defects in HMBS gene in three Italian patients with typical clinical and biochemical signs of AIP. The diagnosis was based on elevated urinary excretion of porphyrinic precursors and reduced erythrocyte HMBS activity. The entire HMBS gene has been amplified by PCR and submitted to direct automated sequencing: no mutations known as responsible for classic form of AIP have been identified. However, each of three patients had a substitutions in the erythroid promoter of HMBS gene that could justify the reduced erythrocyte HMBS activity: c.34–115 C>A, c.34–126 G>C and c.34–156G>A. In order to establish if these substitutions were polymorphisms, more than 200 alleles from Italian normal subjects were sequenced and none of them revealed the substitutions. These three mutations, located specifically in the intron 2, could affect the normal splicing of exon 3 causing an abnormal mRNA, to give rise to the classical form of AIP. The mRNA analysis, however, didn't reveal any abnormal mRNA. Moreover real time experiments in the lymphocytes showed a 100% expression of housekeeping HMBS mRNA excluding the non-sense mediated decay mechanism. These data suggest that these mutations could affect the normal function of the erythroid promoter only, causing an erythroid variant of human acute intermittent porphyria. Further expression studies are in progress.

T1281 Unexplained Recurrent Abdominal Pain Attacks in Carriers of the Thr309lys Mutation of Coagulation Factor XII

T1281 Unexplained Recurrent Abdominal Pain Attacks in Carriers of the Thr309lys Mutation of Coagulation Factor XII

Long-term Results of Extracorporeal Shockwave Lithotripsy and Endoscopic Therapy for Pancreatic Stones

The aim of this study was to evaluate the short- and long-term results of extracorporeal shockwave lithotripsy (ESWL) and endoscopic therapy for pancreatic stones. A total of 117 patients with pancreatic stones underwent ESWL and endoscopic treatment in our institute. Seventy patients who were followed-up for over 3 years after treatment were evaluated retrospectively. Immediate pain relief was achieved in 97% and complete removal of stones was achieved in 56%. During the long-term follow-up evaluation, 49 of 70 patients continued to be asymptomatic. Pain recurred more frequently in patients with incomplete removal than in those with complete removal (P < .05). Twenty-one patients who became symptomatic during the follow-up period underwent additional therapy, and pain relief was attained without surgery in all of them. Both endocrine and exocrine function deteriorated after the long-term follow-up period (P < .05). ESWL and endoscopic treatment of pancreatic stones proved to be effective for long-term pain relief, especially in patients in whom stones were removed completely at initial therapy.

A Proinflammatory, Antiapoptotic Phenotype Underlies the Susceptibility to Acute Pancreatitis in Cystic Fibrosis Transmembrane Regulator (−/−) Mice

A Proinflammatory, Antiapoptotic Phenotype Underlies the Susceptibility to Acute Pancreatitis in Cystic Fibrosis Transmembrane Regulator (−/−) Mice

Mini‐laparoscopic cholecystectomy in children under 10 years of age with sickle cell disease

Cholelithiasis is very common in patients with sickle cell disease (SCD) and is responsible for recurrent attacks of abdominal pain. The ideal management, especially for children, remains controversial. The purpose of the present study was to evaluate the safety and outcome of mini-laparoscopic cholecystectomy (MLC) in young children under age of 10 years with SCD. A prospective study was carried out of 75 children with SCD under 10 years of age with recurrent abdominal pains seen between August 2001 and March 2004 at Armed Forces Hospital, Khamis Mushayt, Saudi Arabia, who were screened for cholelithiasis. Twelve (16%) of the 75 children were found to have gallstones. The mean age was 7.8 years (range 4-9 years). All 12 children underwent MLC. Anaemia was corrected preoperatively in all the patients. Operative time, intraoperative complications, hospital stay, and postoperative recurrent abdominal pain were recorded. The mean operating time was 46.5 min (range: 35-65 min). Intraoperative cholangiogram failed in two children due to narrow cystic ducts. The mean hospital stay was 2.1 days (range: 2-4 days). No patient required intra-abdominal drain. The mean follow-up period was 13.4 months (range: 4-24 months). The only postoperative complication was deep jaundice 1 month postoperatively due to cholestasis, and this responded to medical treatment. None of the children had recurrent abdominal pain after MLC. Mini-laparoscopic cholecystectomy is a safe surgical procedure for the management of cholelithiasis in children with SCD and leads to improvement in the quality of life by decreasing the frequency of recurrent abdominal pain.

Intestinal ischemia complicating paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder of hematopoiesis characterized by pancytopenia, intravascular hemolysis, and bone marrow aplasia. It is manifested by repeated episodes of hemoglobinuria and a tendency for the development of widespread venous thrombosis, which may affect unusual sites, such as hepatic and mesenteric veins.1 Many patients suffer from recurrent attacks of abdominal pain that are assumed to be secondary to intestinal venous thrombosis. However, there is little direct evidence to support this hypothesis.

Implications of molecular diagnostic testing in families with hereditary pancreatitis.

Hereditary Pancreatitis (HP), is an autosomal dominant trait, which presents with recurrent attacks of abdominal pain, and is the most common cause of chronic relapsing pancreatitis in children. In addition to recurring episodes of intense epigastric pain, patients have nausea, vomiting, and anorexia, and typically show elevated serum amylase levels during the acute episode that can rapidly decline in convalescence. Complications of long-standing disease include features of chronic pancreatitis, such as pancreatic pseudo-cyst, exocrine and endocrine failure, parenchymal calcification, and pancreatic cancer. A large family from Virginia, which was originally studied by Katwinkle and Lapey in 1973, was re-ascertained through a new proband. Linkage studies in this family mapped the gene to the 7q35 region, with similar results being reported simultaneously by two other groups. A pathogenic G to A transition mutation in exon 3 of the cationic trypsinogen (CT) gene, which had previously been mapped to this region, was found both in our family as well as other families from North America. Many other conditions can produce abdominal symptoms that are often mis-attributed to the disease in HP families. An affected member of our family in whom the mutation was confirmed by direct sequencing of exon 3 of the cationic trypsinogen gene requested diagnostic testing on his 4-year-old son because of onset of severe abdominal pain and vomiting. Screening for the mutation in this child did not reveal the pathogenic G to A change. These results prevented unnecessary invasive diagnostic procedures and treatment in this child. The pre-symptomatic testing of high risk individuals could, thus, have a significant impact on the well being of both affected and normal family members.

Still Hazy after All These Years

A 23-year-old woman of Moroccan Jewish origin was admitted to the hospital with abdominal pain. She had had recurrent attacks of abdominal pain, sometimes with fever, for the previous three months. There were no other gastrointestinal or urinary tract symptoms. Her medical history was unremarkable, and her parents were not related.Acute abdominal pain may occur in a number of medical conditions. Common causes include gastroenteritis, urinary tract infection, salpingitis, intestinal obstruction, intestinal ischemia, and irritable bowel syndrome. However, a history of recurrent attacks of abdominal pain with fever in a patient of Mediterranean origin immediately suggests a . . .

Hereditary Pancreatitis in the Children of West Virginia

Hereditary pancreatitis is the second most common cause of chronic pancreatitis in children.1 In this entity, pancreatitis is clustered in families and inherited throughout the generations, involving many family members. The disease is transmitted as an autosomal dominant trait which is not sex-linked and has limited penetrance.1 Unfortunately, the etiology of this familial disease is unknown. The most common symptom in hereditary pancreatitis is recurrent attacks of abdominal pain due to repeated episodes of acute pancreatitis, which later may result in exocrine and/or endocrine pancreatic insufficiency. In cases in which pancreatic histology had been reported, normal pancreatic tissue was replaced by diffuse fibrosis and chronic inflammation.2

Acute intermittent porphyria with pancreatitis and pancreatic fistula

Objective To report a case of acute intermittent porphyria and acute, relapsing pancreatitis with pancreatic fistula. Design Single case report and review of the literature. Setting Medical department of a community hospital. Patient A 39-year-old woman with recurrent attacks of abdominal pain. On the first occasion, she was diagnosed as having acute pancreatitis. During the second episode of abdominal pain, a diagnosis of acute intermittent porphyria could be established and a pancreatico-peritoneal fistula was documented by endoscopic retrograde cholangiopancreatography. Outcome The patient was discharged from hospital without symptoms. Conclusion To our knowledge, this is the first reported case of acute intermittent porphyria with acute pancreatitis and pancreatic fistula. This report adds to the scarce data on the association of porphyria and pancreatitis. Acute intermittent porphyria may be obscured by the presence of acute pancreatitis, especially when there is a delay between the onset of abdominal pain and laboratory evaluation, since an increase in pancreatic enzyme levels occurs late in the course of a porphyric attack.

Oriental cholangiohepatitis: pathologic, clinical, and radiologic features.

Oriental cholangiohepatitis, an endemic disease in Southeast Asia, is characterized by recurrent attacks of abdominal pain, fever, and jaundice. Pathologically, the intra- and extrahepatic ducts are dilated and contain soft, pigmented stone and pus. There is proliferation of bile ducts and infiltration of inflammatory cells along the periportal spaces and hepatic parenchyma. Localized intrahepatic segmental ductal stenosis may be present, especially in the lateral segment of the left lobe or posterior segment of the right hepatic lobe. The cause of the disease is not known, but associations with clonorchiasis, ascariasis, and nutritional deficiency have been suggested. Sonographic and CT findings include intra- or extrahepatic duct stones, dilatation of the extrahepatic duct with relatively mild or no dilatation of the intrahepatic ducts, localized dilatation of the lobar or segmental bile ducts, increased periportal echogenicity, segmental hepatic atrophy, and gallstones. Cholangiographic findings include bile duct stones; disproportionately severe dilatation of the extrahepatic ducts with mild or no dilatation of the intrahepatic ducts; and focal strictures, acute peripheral tapering, straightening, rigidity, decreased arborization, and an increased branching angle of the intrahepatic bile ducts.

Oriental cholangiohepatitis: sonographic findings in 48 cases.

Oriental cholangiohepatitis is characterized by recurrent attacks of abdominal pain, fever, chill, and jaundice and grossly dilated extrahepatic and intrahepatic ducts containing soft, pigmented stone and pus. Sonograms were studied in 48 patients in whom the diagnosis was later proved during surgery (n = 34) or on the basis of clinical and laboratory findings and endoscopic retrograde cholangiography (n = 14). The sonographic findings included intrahepatic and/or extrahepatic bile duct stones (n = 47); moderate to severe dilatation of the extrahepatic ducts with relatively mild or no dilatation of intrahepatic bile ducts (n = 41); localized dilatation of the lobar or segmental bile ducts, especially the left hepatic lobe (n = 16); and gallstones (n = 22). Our experience suggests that the preoperative diagnosis of oriental cholangiohepatitis can be strongly suggested by sonographic findings.

Impaired heme synthesis in a family with Pelger-Huët anomaly, recurrent abdominal pain attacks and impaired neutrophil motility in vitro.

Heme synthesis was studied by measuring the activity of delta-aminolevulinic acid synthase (AmLev synthase) in granulocytes, the activity of delta-aminolevulinic acid dehydratase (AmLev dehydratase) and of uroporphyrinogen I synthase in erythrocytes as well as the concentrations of coproporphyrin and protoporphyrin in erythrocytes of 6 patients with Pelger-Huët anomaly. 3 of these patients from the same kindred had a syndrome of recurrent attacks of fever and abdominal pains, a tendency to skin infections, delayed wound healing and impaired neutrophil motility. The other 3 patients were asymptomatic. The activity of AmLev synthase was depressed in all 3 symptomatic patients and normal in the asymptomatic patients. 1 symptomatic patient had a decreased erythrocyte protoporphyrin concentration. These findings indicate a derangement of heme synthesis in the symptomatic patients. Their abdominal pain attacks could be due to heme depletion. The findings suggest that the abdominal pains of patients with porphyria could be due to decreased heme synthesis rather than due to accumulation of porphyrin precursors in tissues. The cause of the impaired neutrophil motility may be a defect in energy metabolism due to decreased supply of heme for oxidative metabolism.

Duplication of the gallbladder associated with childhood obstructive biliary disease and biliary cirrhosis

A 4-yr-old girl presented with recurrent attacks of abdominal pain, vomiting, fever, and jaundice, progressing to biliary cirrhosis. The diagnosis of duplication of the gallbladder was established by transhepatic cholangiography. Clinical recovery and histologic improvement followed removal of the gallbladders. In every case of obstructive biliary disease or biliary cirrhosis in childhood, no effort should be spared in searching for a malformation of the biliary system.