No abstract

Key Clinical MessageCongenital erythrocytosis is a hereditary disorder due to an increase in red cell mass that can be caused by mutations in proteins involved in HIF‐α pathway, as PHD2. Hereby, we describe a new familial mutation in PHD2 gene. Considering an increased thrombotic potential, patients began antiplatelet aggregation therapy and phlebotomies.

Background FPCD remains a challenging condition with negative impact on quality of life. Recently, a novel classification was proposed intending to optimize and standardize the management of these patients (Geldof J, et al. Lancet Gastroenterol Hepatol. 2022 Jun;7(6):576-584). We aimed to characterize and classify a population of patients with FPCD according to this recent classification, evaluate the agreement between patient and clinician perspectives regarding disease treatment goals and correlate the new classification with patient’s quality of life. Methods Cross-sectional study which consecutively included FPCD’ adult patients (diagnosis > 6 months) followed at a gastroenterology consultation, from September to November 11, 2022. A Portuguese translated diagram of the new classification was presented to included patients, which had to select the class that most faithfully represents the current moment of their disease status. Subsequently, the IBDQ-32 questionnaire was completed. A separate form completed by a senior gastroenterologist include all the demographic and clinical data of each patient and the respective blindly chosen class. Results 23 patients (mean age of 34.4 ± 13.8 years, 60.7% woman) with FPCD were included. Disease location (Montreal Classification) was L1 in 9/23 patients, L2 in 5/23 patients and L3 in 9/23 patients. Two patients had also upper gastrointestinal tract involvement (L4). Crohn’s disease duration was 8.87 ± 8.176 years and fistula duration 4.26 ± 3.063 years (table 1). Therapy data including surgery is shown in Table 2. Most patients had a transphincteric (13/23) and complex fistula (20/23). Mean PDAI was 6±2.6 and HBI 2.2±1.65. Class 2a (repair) was the most frequently chosen by patients and clinician (62.5% and 58.3% respectively) (table 3). Mean IBDQ32 score was 97.6 ± 16.9 (table 4). A slight agreement between patient and clinician regarding the new classification system was found (Cohen’s Kappa of 0.176), and a negative correlation between the class chosen by the patient and the respective IBDQ-32 score (Kendalls’ Tau correlation coefficient -0.359, p = 0.033 (p<0,05)). Conclusion The low level of concordance between patient and clinician (with the limitation of a small sample size) draws attention to a gap in the treatment decision-making process of FPCD patients. A turning point in the management of these patients may occur with a progressive implementation of this classification into clinical practice after its validation, as it may allow for a shared discussion and greater patient responsibility in therapeutic decisions. The significant disease burden carried by these patients is underscored by the progressive lower IBDQ32 scores associated with higher class in this new system classification.

No abstract

No abstract

Congenital erythrocytosis (CE) represents a rare and heterogeneous group of hereditary disorders. The molecular basis of VHL gene mutations related to CE. Recently, Lenglet et al. reported a discovery of a novel cryptic exon in the VHL gene. Mutations in the first intronic region resulting in the creation of a cryptic exon termed E1ʹ were found in seven families with CE and one family with VHL disease. We report three patients with prolonged CE with the aetiology being clarified several years later by sequencing of intronic region 1 of the VHL gene. This work addresses the first cases reported at the clinical level of VHL-associated CE due to the E1ʹ cryptic exon.

No abstract

Undifferentiated osteoclast-like giant cell carcinomas (UOLGCCs) of the digestive tract are very rare, with only a few cases reported in the literature. An 82-year-old man was referred to the emergency department for melena. Endoscopic examination revealed a hemicircumferential ulcerovegetative lesion, involving the bulbar apex and extending to the second portion of the duodenum; biopsies revealed an UOLGCC. The patient underwent transfusion support therapy, and he was proposed for best supportive care. Duodenal UOLGCC is an extremely rare cause of upper gastrointestinal bleeding. Clinical findings and therapeutic approach represent a challenge in this pathology.