Groove Pancreatitis—Tumor-like Lesion of the Pancreas

Groove pancreatitis (GP) is an uncommon appearance of pancreatitis represented by fibrous inflammation and a pseudo-tumor in the area over the head of the pancreas. The underlying etiology is unidentified but is firmly associated with alcohol abuse. We report the case of a 45-year-old male patient with chronic alcohol abuse who was admitted to our hospital with upper abdominal pain radiating to the back and weight loss. Laboratory data were within normal limits, except for the level of carbohydrate antigen (CA) 19-9. An abdominal ultrasound and computed tomography (CT) scan revealed swelling of the pancreatic head and duodenal wall thickening with luminal narrowing. We performed an endoscopic ultrasound (EUS) with fine needle aspiration (FNA) from the markedly thickened duodenal wall and the groove area, which revealed only inflammatory changes. The patient improved and was discharged. The principal objective in managing GP is to exclude a diagnosis of malignancy, whilst a conservative approach might be more acceptable for patients instead of extensive surgery

Hereditary Angioedema: a Challenging Diagnosis for the Gastroenterologist

Hereditary angioedema (HAE) caused by a deficiency of C1 esterase inhibitor enzyme (C1-INH) is a very rare, autosomal dominantly inherited genetic disorder, characterized by recurrent peripheral angioedema, painful abdominal attacks and episodes of laryngeal edema. Abdominal attacks are frequent symptoms in adult HAE patients, occurring in more than 90% of the cases. Angioedema in the bowel or abdomen can occur in the absence of cutaneous manifestations and may be easily misdiagnosed unless the clinician has a high degree of awareness to include HAE in the differential diagnosis. Misdiagnosis is associated with inadequate treatments, including unnecessary surgical procedures. Any patient who presents recurrent episodes of swelling should be evaluated for HAE caused by C1-INH deficiency. New therapies could save lives and dramatically improve their quality of life

Consequences of Misdiagnosed and Mismanaged Hereditary Angioedema Laryngeal Attacks: An Overview of Cases from the Romanian Registry

Emergency department (ED) physicians frequently encounter patients presenting with angioedema. Most of these involve histamine-mediated angioedema; however, less common forms of angioedema (bradykinin-mediated) also occur. It is vital physicians correctly recognize and treat this; particularly since bradykinin-mediated angioedema does not respond to antihistamines, corticosteroids or epinephrine and hereditary angioedema (HAE) laryngeal attacks can be fatal. Here we present four case reports illustrating how failures in recognizing, managing, and treating laryngeal edema due to HAE led to asphyxiation and death of the patient. Recognition of the specific type of angioedema is critical for rapid and effective treatment of HAE attacks. Bradykinin-mediated angioedema should be efficiently differentiated from the most common histamine-mediated form. Improved awareness of HAE and the associated risk of life-threatening laryngeal edema among emergency physicians, patients, and relatives and clear ED treatment protocols are warranted. Moreover, appropriate treatments should be readily available to reduce fatalities associated with laryngeal edema

Mutational spectrum and genotype-phenotype relationships in a cohort of Romanian hereditary angioedema patients caused by C1 inhibitor deficiency

Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) caused by SERPING1 mutations is a rare monogenic disorder characterized by a high frequency of de novo mutations, allelic heterogeneity and populational differences. Geno- and phenotype correlation data are limited. Addressing the pathogenic complexity, we proposed to analyze the clinical and genetic characteristics in a set of Romanian patients. Material and Methods: 49 patients from 22 unrelated families with C1-INH-HAE were investigated, by calculating clinical severity score (CSS), C1-INH and C4 level assessment by nephelometric assays, C1-INH function study by functional enzyme-linked immunosorbent assay, and mutation analysis by sequencing and MLPA. Clinical manifestations by missense vs other mutation mechanisms were compared. Results: The mean age at diagnosis and onset was 28.8±14.7 and 15.1±15.2 years, while the diagnostic delay 13.1±10.1 years. CSS ranged from 2 to 9, with a mean of 5.4±1.8. The frequency of missense and nonsense mutations, splice defects, frameshift mutations and large gene rearrangements was 61.22, 6.12, 22.4, 6.12 and 4.08%; in the regulatory sequence no mutation was described. In type II, only missense mutations were noted. Lower levels of C1-INH characterized index cases caused by mechanisms other than missense mutation, with more severe consequences on protein synthesis (p=0.017). 53% of the cases were identified by familial screening. Conclusion: A later onset of disease manifestations and a higher frequency of missense mutations characterize HAE in Romanian patients with SERPING1 mutation. Genetic analysis improves the management of affected families, and may inform about disease severity