A novel pathogenetic factor of laryngeal attack in hereditary angioedema? Involvement of protease activated receptor 1.

BACKGROUND: Hereditary angioedema (HAE) is a rare, life-threatening disease. The knowledge about the molecular pathogenesis of HAE has derived mainly from investigating blood samples. However, limited data are available on the role of the molecular mechanisms in the affected tissues during HAE attack. OBJECTIVE: The aim of our study was to explore the histological changes occurring in HAE attacks. METHODS: Post mortem macro-, microscopic and immunohistological assessment of upper airway tissues of a patient with HAE due to C1 inhibitor deficiency (C1-INH-HAE) type 2 who died from laryngeal HAE attack was compared with a non-HAE patient who died from other condition without any signs of angioedema. RESULTS: Compared to the control patient, we demonstrated stronger T cell/monocyte infiltration and a more intense C1-INH staining in the C1-INH-HAE patient. The expression of both bradykinin receptors (B1/B2) was observed with a slightly lower level in the C1-INH-HAE patient than in the control patient. PAR1 expression was strongly reduced in the C1-INH-HAE patient suggesting overactivation of this hyperpermeability inducing receptor. CONCLUSION: Our unique case and novel results correspond to the knowledge about C1-INH and BDKRs observed in plasma; however, it revealed new information about the pathomechanism of HAE attack focusing on the potential involvement of PAR1 in edema formation. This observation, if it is verified by subcutaneous biopsy studies, may designate a new therapeutic target in HAE.

[Gardner's syndrome, a rare disease]. / Gardner-syndroma, avagy amikor a raritások "kopogtatnak az ajtón".

Introduction: Gardner's syndrome is a clinical subgroup of Familial Adenomatosus Polyposis, arare, autosomal disease. It is characterized by gastrointestinal polyps and extra-intestinal manifestations including multiple osteomas, skin and tissue tumours. The authors describe a case of a male patient, and discuss the diagnosis, treatment and follow-up of patients with Gardner's syndrome. We conclude that the knowledge of rare syndromes is very important for the correct treatment.

[Cycle vomiting syndrome as a clinical appearance of eosinophilic gastroenteritis]. / Ciklikus hányás-szindróma képében jelentkezo eosinophil gastroenteropathia.

The authors report the case study of a 16-year old boy who presented with cyclic vomiting syndrome. His main clinical symptoms had been unpredictable sudden-onset vomiting episodes interrupting long episodes of full health lasting for several months since the patient was a toddler. Histological results of the upper tract endoscopy showed eosinophil gastroenteritis with long-existing, undetected cow milk allergy as the likely underlying reason. The patient became symptomless following the elimination of cow milk from his diet. The symptoms did not recur following a cow milk load test carried out half a year later, and the patient continues to be symptomless after more than one-year of continuous cow milk consumption. In this paper, the authors would like to highlight the importance of EG int the differential diagnosis of any chronic, recidive gastrointestinal symptoms and discuss the likely underlying causes of EG in paediatrics.

[Carcinoid tumor of the papilla of Vater]. / Vater papilla carcinoid.

Carcinoid tumor of the papilla of Vater is extreme rare. Only 73 cases have been reported in the world literature to date and only 1 case in Hungary. This tumor differs clinically and has a different prognosis from other carcinoid tumors of the gastrointestinal tract as it is more aggressive. The clinical feature is determined by the expansion and infiltrative nature of the tumor. Endoscopic retrograde cholangiopancreatography (ERCP) and endoscopic biopsy (EB) are the most accurate methods of diagnosis, while endoscopic ultrasonography (EUS) is the most important method to decide the surgical strategy. Depending on the tumor size and the grade of invasion of other structures surgical treatment can be local excision or radical resection. We present a 67-year-old female patient with obstructive jaundice, caused by carcinoid tumor of the papilla of Vater. Diagnosis was obtained by ERCP and EB. Because of the signs of local invasion emerging on EUS a pylorus preserving pancreatoduodenectomy was performed. Six months after the operation there is no evidence of recurrence.