A166 ANALYSIS OF SYMPTOMS, DIAGNOSTIC PATTERNS, AND CANADIAN PROVIDER PERSPECTIVE OF ACUTE HEPATIC PORPHYRIA

Abstract Background Acute hepatic porphyria (AHP) is a family of rare genetic diseases, the most common being acute intermittent porphyria (AIP). AHP results from enzyme deficiencies involved in haem synthesis, leading to accumulation of neurotoxic haem intermediates, aminolaevulinic acid (ALA) and porphobilinogen (PBG), causing potentially life-threatening attacks and chronic symptoms. Patients afflicted by AHP often remain without a proper diagnosis for up to 15 years due to lack of awareness and testing. First-line diagnostic biochemical tests include measuring spot urinary ALA and PBG as both are elevated in the majority of AHP patients. Aims The study aimed to describe physicians experience diagnosing AHP and characterize patients globally, including Canada. Methods Physicians (n=175) who actively managed AHP patients (with and without recurrent attacks) in the preceding year were recruited from 9/2017–10/2017 to complete an online survey collecting information on demographics, familiarity with AHP and diagnostic tests, perspective on symptoms important to diagnosis, referral patterns, and treatment preferences. Physicians also completed a chart review of 546 patients and reported anonymized data on demographics, medical history, attacks, and symptoms. Data was analysed using descriptive statistics. Results Canadian physicians (n=15) practiced a mean of 19.7 years, 67% worked in community settings, and 53% were gastroenterologists. Symptoms informing AHP diagnosis included fatigue (93%), sensory loss (87%), mental confusion (87%), Abdominal pain (80%), red/dark urine (80%), vomiting (73%). AHP diagnostic tests considered informative for diagnosis included urinary ALA (87%) and PBG (80%); however, several non-specific tests were also commonly considered informative of AHP. Chronic symptoms reported included fatigue (75%), nausea/vomiting (70%), weakness (66%), pain (58%), anxiety (54%), diarrhea (41%), constipation (40%). Canadian physicians reported a mean of 58% AHP patients they manage being initially misdiagnosed. Global patients (n=546) were aged 40 years (mean), female (52%), with AIP (83%). Canadian patients (n=38) were aged 41 years (mean), female (61%), with AIP (78%). Patients had mean of 3.4 attacks and 1.6 hospitalizations in the past year. Conclusions This study highlights the challenges diagnosing AHP due to non-specificity of symptoms and limited understanding of diagnostic procedures. Due to the frequent presentation of gastrointestinal symptoms, AHP should be included in gastroenterologists’ differential diagnosis of patients presenting with non-specific abdominal pain. Among patients diagnosed with AHP, both acute attacks and chronic symptoms were reported, implicating both in the disease. Funding Agencies Alnylam Pharmaceuticals

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Recurrent Abdominal Pain: The Cost of the Aches and the Aches of the Cost

Pediatrics in Review ◽

10.1542/pir.8.5.143 ◽

1986 ◽

Vol 8 (5) ◽

pp. 143-151

Author(s):

William L. Coleman ◽

Melvin D. Levine

Keyword(s):

Abdominal Pain ◽

Diagnostic Tests ◽

Diagnostic Procedures ◽

Recurrent Abdominal Pain ◽

Normal Activity ◽

Multifactorial Model ◽

Lost Work ◽

Aged Child ◽

Cost Efficient ◽

The Cost

Recurrent abdominal Pain is the most common chronic pain entity in the school-aged child and young adolescent.1,2 It is rarely seen before a child is 5 years of age; its peak incidence in children is 10 to 12 years of age. Although definitions vary, different studies estimate the prevalence at 10% to 15%; girls slightly outnumber boys.2,3 Recurrent abdominal pain accounts for 5% of pediatric office visits4 and continues to be a challenging, frustrating, time-consuming enterprise, one capable of generating intense anxiety on the part of children, parents, and seasoned clinicians. Multiple diagnostic tests may be painful (and fruitless). Significant costs may be incurred through diagnostic procedures, laboratory investigation, extensive medical evaluations (including subspecialty consultations), hospitalization, lost work days for parents, and caretaker's fees. Children also suffer a reduction in normal activity and sacrifice school days.3,5 Finally, there is the toll (for child and parent) of living with the symptom(s) of a "disease" without knowing its cause, cure, or prognosis.6 The object of this review is to present a multifactorial model of causation and a cost-efficient approach for the practical management of recurrent abdominal pain. Two case prototypes will portray the conceptual framework and highlight practical issues in diagnosis and management.

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Lactobacillus Reuteri DSM 17938 (Limosilactobacillus reuteri) in Diarrhea and Constipation: Two Sides of the Same Coin?

Medicina ◽

10.3390/medicina57070643 ◽

2021 ◽

Vol 57 (7) ◽

pp. 643

Author(s):

Angela Saviano ◽

Mattia Brigida ◽

Alessio Migneco ◽

Gayani Gunawardena ◽

Christian Zanza ◽

...

Keyword(s):

Inflammatory Bowel Disease ◽

Emergency Department ◽

Abdominal Pain ◽

Human Health ◽

Bowel Disease ◽

Chronic Constipation ◽

Lactobacillus Reuteri ◽

Current Knowledge ◽

Gastrointestinal Symptoms ◽

Inflammatory Bowel

Background and Objectives: Lactobacillus reuteri DSM 17938 (L. reuteri) is a probiotic that can colonize different human body sites, including primarily the gastrointestinal tract, but also the urinary tract, the skin, and breast milk. Literature data showed that the administration of L. reuteri can be beneficial to human health. The aim of this review was to summarize current knowledge on the role of L. reuteri in the management of gastrointestinal symptoms, abdominal pain, diarrhea and constipation, both in adults and children, which are frequent reasons for admission to the emergency department (ED), in order to promote the best selection of probiotic type in the treatment of these uncomfortable and common symptoms. Materials and Methods: We searched articles on PubMed® from January 2011 to January 2021. Results: Numerous clinical studies suggested that L. reuteri may be helpful in modulating gut microbiota, eliminating infections, and attenuating the gastrointestinal symptoms of enteric colitis, antibiotic-associated diarrhea (also related to the treatment of Helicobacter pylori (HP) infection), irritable bowel syndrome, inflammatory bowel disease, and chronic constipation. In both children and in adults, L. reuteri shortens the duration of acute infectious diarrhea and improves abdominal pain in patients with colitis or inflammatory bowel disease. It can ameliorate dyspepsia and symptoms of gastritis in patients with HP infection. Moreover, it improves gut motility and chronic constipation. Conclusion: Currently, probiotics are widely used to prevent and treat numerous gastrointestinal disorders. In our opinion, L. reuteri meets all the requirements to be considered a safe, well-tolerated, and efficacious probiotic that is able to contribute to the beneficial effects on gut-human health, preventing and treating many gastrointestinal symptoms, and speeding up the recovery and discharge of patients accessing the emergency department.

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COVID-19 and gastrointestinal symptoms in Mexico, a systematic review: does location matter?

BMC Infectious Diseases ◽

10.1186/s12879-021-06252-y ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Antonio Pizuorno ◽

Nora A. Fierro ◽

Edgar D. Copado-Villagrana ◽

María E. Herrera-Solís ◽

Gholamreza Oskrochi ◽

...

Keyword(s):

Abdominal Pain ◽

Mortality Rate ◽

Clinical Symptoms ◽

Descriptive Analysis ◽

Gastrointestinal Symptoms ◽

Northwest Mexico ◽

Obesity And Diabetes ◽

West Mexico ◽

Southeast Mexico

Abstract Background Covid-19 in Mexico is on the rise in different parts of the country. We aimed to study the symptoms and comorbidities that associate with this pandemic in 3 different regions of Mexico. Methods We analyzed data from SARS-CoV-2 positive patients evaluated at healthcare centers and hospitals of Mexico (n = 1607) including Northwest Mexico (Sinaloa state), Southeast Mexico (Veracruz state) and West Mexico (Jalisco state) between March 1 and July 30, 2020. Mexico consists of a total population that exceeds 128 million. Demographics, comorbidities and clinical symptoms were collected. Statistical descriptive analysis and correlation analyses of symptoms, comorbidities and mortality were performed. Results A total of 1607 hospitalized patients positive for COVID-19 across all 3 regions of Mexico were included. The average age was 54.6 years and 60.4% were male. A mortality rate of 33.1% was observed. The most common comorbidities were hypertension (43.2%), obesity (30.3%) and diabetes (31.4%). Hypertension was more frequent in West (45%), followed by Northwest (37%) and Southeast Mexico (29%). Obesity was around 30% in Northwest and West whereas an 18% was reported in Southeast. Diabetes was most common in West (34%) followed by Northwest (22%) and Southeast (13%). This might be related to the highest mortality rate in Northwest (31%) and West (37%) when compared to Southeast. Most common symptoms in our overall cohort were fever (80.8%), cough (79.8%), headache (66%), dyspnea (71.1%), myalgia (53.8%), joints pain (50.8%) and odynophagia (34.8%). Diarrhea was the main gastrointestinal (GI) symptom (21.3%), followed by abdominal pain (18%), and nausea/ vomiting (4.5%). Diarrhea and abdominal pain were more common in West (23.1 and 21%), followed by Southeast (17.8, and 9.8%) and Northwest (11.4 and 3.1%). Conclusion Our study showed a high mortality rate likely related to high frequencies of comorbidities (hypertension, obesity and diabetes). Mortality was different across regions. These discrepancies might be related to the differences in the frequencies of comorbidities, and partially attributed to differences in socio-economic conditions and quality of care. Thus, our findings stress the need for improved strategies to get better outcomes in our population.

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Seronegative Arthritis as a Complication of Whipple’s Disease

Clinical Medicine Insights Case Reports ◽

10.1177/11795476211017717 ◽

2021 ◽

Vol 14 ◽

pp. 117954762110177

Author(s):

Rebecca DeBoer ◽

Sahani Jayatilaka ◽

Anthony Donato

Keyword(s):

Rheumatoid Arthritis ◽

Weight Loss ◽

Abdominal Pain ◽

Gastrointestinal Symptoms ◽

Whipple’S Disease ◽

Seronegative Arthritis ◽

Whipple's Disease ◽

Caucasian Male

Whipple’s disease (WD) is an uncommon cause of seronegative arthritis. WD is known for its gastrointestinal symptoms of diarrhea, weight loss, and abdominal pain. However, arthritis may precede gastrointestinal symptoms by 6 to 7 years. We describe a case of an 85-year-old Caucasian male with multiple joint complaints, not responsive to traditional treatments for conditions such as rheumatoid arthritis and osteoarthritis. We suggest that WD be considered for seronegative arthritis especially affecting large joints.

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Cannabinoid Hyperemesis Syndrome: A Case Report of an Underdiagnosed Condition

GE Portuguese Journal of Gastroenterology ◽

10.1159/000512088 ◽

2020 ◽

pp. 1-5

Author(s):

João Machado Nogueira ◽

Inês Fonseca ◽

Marco Duarte

Keyword(s):

Emergency Department ◽

Abdominal Pain ◽

Diagnostic Tests ◽

Clinical Symptoms ◽

Definitive Diagnosis ◽

Hot Water ◽

Illustrative Case ◽

Raising Awareness ◽

Detailed Medical History ◽

Cannabinoid Hyperemesis Syndrome

Cannabinoid hyperemesis syndrome (CHS) is characterized by episodic bursts of nausea, vomiting and abdominal pain, affecting chronic cannabis users. The clinical picture mimics an acute abdomen, usually leading to multiple assessments in the emergency department. Several complementary diagnostic examinations are performed with non-specific results, making differential diagnosis puzzling. We present a case of a 42-year-old man, who has been admitted multiple times to the emergency department in the last 3 months for abdominal pain, nausea and vomiting, without triggering factors and improving only with hot water baths. He was evaluated by different specialties, the various complementary diagnostic tests performed showed no significant results, and no definitive diagnosis was obtained. Treatment resulted only in a partial and transient resolution of symptoms. A more detailed medical history revealed cannabis use for more than 5 years, with a recent increase in the amount consumed. After psychoeducation, explaining the risks associated with consumption and its relationship with the clinical symptoms, which resulted in complete suspension of cannabis, there have been no new symptomatic episodes since then. We present an illustrative case of a poorly reported clinical entity despite having a probable significant prevalence, raising awareness in order that clinicians identify and properly manage these cases.

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A COMPREHENSIVE STUDY ON ACUTE NON-TRAUMATIC ABDOMINAL EMERGENCIES

10.36106/gjra/9100688 ◽

2021 ◽

pp. 14-16

Author(s):

Md. Quamar Zubair ◽

A. K. Jha Suman

Keyword(s):

Abdominal Pain ◽

Acute Appendicitis ◽

Surgical Intervention ◽

Age Groups ◽

Diagnostic Procedures ◽

Accurate Diagnosis ◽

Postoperative Patient ◽

Correct Treatment ◽

Abdominal Emergencies ◽

Comprehensive Study

Abdominal pain is one of the most common reasons for visit to the emergency room. Acute appendicitis is the commonest cause. An accurate diagnosis is essential for the correct treatment, which in many cases will prevent the death of the patient. Mainstay of diagnosis is history and physical examination. If this information is inadequate to establish a diagnosis and urgent or immediate operation is unnecessary, the periodic re-examination helps document the progression of the disease and often avoids unnecessary surgical intervention. Today the combination of improved diagnostic procedures, antibiotic and better anaesthesia and preoperative and postoperative patient care has led to a decrease in morbidity and mortality of patients with acute abdomen. The objective of this study was to determine the various causes of nontraumatic acute abdominal emergencies, their incidence, management and mortality in both sexes and all age groups >12 years age.

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Longer colonic transit time is associated with laxative and drug use, lifestyle factors, and symptoms of constipation

Acta Radiologica Open ◽

10.1177/2058460118807232 ◽

2018 ◽

Vol 7 (10) ◽

pp. 205846011880723 ◽

Cited By ~ 1

Author(s):

Johan Bohlin ◽

Erik Dahlin ◽

Julia Dreja ◽

Bodil Roth ◽

Olle Ekberg ◽

...

Keyword(s):

Abdominal Pain ◽

Drug Use ◽

Transit Time ◽

Gastrointestinal Symptoms ◽

Coffee Consumption ◽

Lifestyle Factors ◽

Colonic Transit ◽

Stool Frequency ◽

Colonic Transit Time ◽

Female Sex

Background Gastrointestinal symptoms and changes in colonic transit time (CTT) are common in the population. Purpose To evaluate consecutive patients who had been examined for CTT, along with completion of a diary about laxative and drug use, lifestyle factors, and gastrointestinal symptoms, to identify possible associations with longer or prolonged CTT. Material and Methods A total of 610 consecutive patients had undergone the radiopaque marker method with an abdominal X-ray for clinical purposes. The patients had completed a diary regarding medical treatment, lifestyle factors, stool habits, and their perceived constipation and abdominal pain during the examination period. The associations between CTT and laxative use, lifestyle factors, stool habits, and symptoms were calculated by logistic regression. Results Women had longer CTT (2.5 [1.6–3.9] vs. 1.7 [1.1–3.0] days, P < 0.001), lower weekly stool frequency (6 [3–10] vs. 8 [5–12], P = 0.001), and perceived more constipation ( P = 0.025) and abdominal pain ( P = 0.001) than men. High coffee consumption ( P = 0.045), bulk-forming ( P = 0.007) and osmotic ( P = 0.001) laxatives, and lower stool frequency, shaped stool, and perceived constipation ( P for trend < 0.001) were associated with longer CTT. In total, 382 patients (63%) were treated with drugs affecting motility. In the 228 patients without drug treatment, longer CTT was associated with female sex and smoking, and lower frequency of symptoms and prolonged CTT were observed compared to patients using drugs. Tea, alcohol, and abdominal pain did not associate with CTT. Conclusions Female sex, coffee, smoking, drug use, infrequent stools, shaped stool, and perception of constipation are associated with longer or prolonged CTT.

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Gluten and Functional Abdominal Pain Disorders in Children

Nutrients ◽

10.3390/nu10101491 ◽

2018 ◽

Vol 10 (10) ◽

pp. 1491 ◽

Cited By ~ 2

Author(s):

Alejandro Llanos-Chea ◽

Alessio Fasano

Keyword(s):

Abdominal Pain ◽

Pediatric Patients ◽

Functional Gastrointestinal Disorders ◽

Gastrointestinal Symptoms ◽

Gluten Sensitivity ◽

Gluten Free ◽

Functional Abdominal Pain ◽

Adults And Children ◽

Small Intestinal ◽

Irritable Bowel

In children, functional gastrointestinal disorders (FGIDs) are common at all ages. Consumption of certain foods, particularly gluten, is frequently associated with the development and persistence of FGIDs and functional abdominal pain disorders (FAPDs) in adults and children. However, this association is not well defined. Even without a diagnosis of celiac disease (CD), some people avoid gluten or wheat in their diet since it has been shown to trigger mostly gastrointestinal symptoms in certain individuals, especially in children. The incidence of conditions such as non-celiac gluten sensitivity (NCGS) is increasing, particularly in children. On the other hand, CD is a chronic, autoimmune small intestinal enteropathy with symptoms that can sometimes be mimicked by FAPD. It is still unclear if pediatric patients with irritable bowel syndrome (IBS) are more likely to have CD. Abdominal, pain-associated FGID in children with CD does not seem to improve on a gluten-free diet. The threshold for gluten tolerance in patients with NCGS is unknown and varies among subjects. Thus, it is challenging to clearly distinguish between gluten exclusion and improvement of symptoms related solely to functional disorders.

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Effect of Menstrual Cycle on Acute Intermittent Porphyria

Child Neurology Open ◽

10.1177/2329048x17736170 ◽

2017 ◽

Vol 4 ◽

pp. 2329048X1773617 ◽

Cited By ~ 4

Author(s):

V. R. Souza Júnior ◽

V. M. V. Lemos ◽

I. M. L. Feitosa ◽

R. Florencio ◽

C. W. B. Correia ◽

...

Keyword(s):

Abdominal Pain ◽

Acute Abdominal Pain ◽

Acute Intermittent Porphyria ◽

Pelvic Magnetic Resonance Imaging ◽

Motor Weakness ◽

Irrational Behavior ◽

Emergency Units ◽

Video Laparoscopy ◽

Magnetic Resonance Imaging Mri ◽

Histopathological Lesion

A 16-year-old female who was attended as an outpatient reported localized, acute abdominal pain with vomiting, symmetrical motor weakness, and burning sensation in both arms and legs. Her medical history showed irrational behavior, repeated admissions at the emergency units of many other reference hospitals, where she had been investigated for celiac disease and treated with analgesics for pain events. Her clinical condition remained unchanged despite the use of many oral analgesics. In those admissions, she showed dysautonomia, vomiting, and abdominal pain. Diagnosis investigation disclosed a notable serum hyponatremia (133.7 mEq/L). She was referred for endoscopy and the histopathological lesion of the antrum in the stomach did not show neoplastic lesions. Colonoscopy, pelvic magnetic resonance imaging (MRI), total abdominal computed tomography, and video laparoscopy were without significant abnormalities. Suspicion of acute intermittent porphyria was confirmed by quantitative urine porphobilinogen-level tests and genetic analysis. Patient was successfully treated with intravenous infusion of glucose and hemin therapy.

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Effectiveness of mebeverine in patients with post-cholecystectomy gastrointestinal spasm: results of prospective observational program “odyssey”

Terapevticheskii arkhiv ◽

10.26442/terarkh201890840-47 ◽

2018 ◽

Vol 90 (8) ◽

pp. 40-47 ◽

Cited By ~ 1

Author(s):

I V Maev ◽

Yu A Kucheravy ◽

V V Tsukanov ◽

E Yu Eremnia ◽

D N Andreev ◽

...

Keyword(s):

Quality Of Life ◽

Abdominal Pain ◽

Surgical Treatment ◽

Rating Scale ◽

Clinical Symptoms ◽

Gastrointestinal Symptoms ◽

Marked Change ◽

Numeric Rating Scale ◽

Observational Assessment

Aim: to assess the effectiveness of mebeverine 200 mg BID in patients with post-cholecystectomy gastrointestinal spasm not requiring surgical treatment. Materials and methods. 218 patients were included in 16 clinical centers in 14 cities in Russia. All patients had post-cholecystectomy gastrointestinal spasms, not requiring surgical treatment and received mebeverine (Duspatalin®) 200 mg BID. The observational assessment period lasted from the moment of their inclusion into the study up to 6 weeks post inlusion. The therapy results were evaluated using visual analog scales (GPA and 11-point numeric rating scale) by patient self-assessment of the dynamics of spasm/discomfort and other post-cholecystectomic gastrointestinal symptoms after 2 and 6 weeks of treatment. Gastrointestinal Quality of Life Index (GIQLI) was used to assess patient quality of life. Results and discussion. All 218 patients completed the 2-week mebeverine treatment course, 101 of them finished the 6-week course (“prolonged population”). Significant positive changes in the relief of abdominal pain and dyspepsia were noted as well as normalization of stool frequency and consistency. A more marked change in values was observed during prolonged (up to 6 weeks) therapy. Both 2-week and 6-week mebeverine courses led to a normalization of patient quality of life. After 6 week therapy, an effect of mebeverine on the quality of life 91% of patients was observed comparable to cholecystectomy itself, speficially related to the quality of life subscore ‘symptoms’. Conclusion. The results of our study demonstrate that mebeverine (Duspatalin®) therapy leads to an effective elimination of clinical symptoms associated with post-cholecystectomy GI-spasm disorders, like abdominal pain, symptoms of dyspepsia and stooldisorders. A more marked change in values was observed during prolonged (up to 6 weeks) therapy.

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