Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant fibrovascular dysplasia caused by mutations in ENG, ACVRL1, and SMAD4. Increasingly, there has been an appreciation for vascular conditions with phenotypic overlap to HHT but which have distinct clinical manifestations and arise from novel or uncharacterized gene variants. This study reported on a cohort of four unrelated probands who were diagnosed with a rare form of GDF2‐related HHT5, for which only five prior cases have been described. Two patients harbored heterozygous missense variants not previously annotated as pathogenic (p.Val403Ile; p.Glu355Gln). Clinically, these patients had features resembling HHT1, including cerebrovascular involvement of their disease (first report documenting cerebral involvement of HHT5), but with earlier onset of epistaxis and a unique anatomic distribution of dermal capillary lesions that involved the upper forelimbs, trunk, and head. The other two patients harbored interstitial deletions larger than five megabases between 10q11.22 and 10q11.23 that included GDF2. To our knowledge, this is the first report detailing large genomic deletions leading to HHT5. These patients also demonstrated mucocutaneous capillary dysplasias, including intranasal vascular lesions complicated by childhood‐onset epistasis, with a number of extravascular findings related to their 10q11.21q11.23 deletion. In conclusion, patients with GDF2‐related HHT may present with a number of unique characteristics that differ from classically reported features of HHT.
10 (40%) patients died during that hospitalization. There was no significant difference in 1-year all-cause mortality (P ¼ 0.13) or clinical success (P ¼ 0.99) between negative and positive angiography. Conclusions: In gastrointestinal bleeding requiring angiographic evaluation, there was no significant difference in clinical success or 1-year all-cause mortality between patients who had positive angiography and those who had negative angiography.
Purpose: To evaluate national trends in transjugular intrahepatic portosystemic shunt (TIPS) creation and revision rates and evaluate trainee exposure to TIPS placement and revision Materials and Methods: Medicare Physician/Supplier Summary Files were evaluated from 2010 to 2018. TIPS shunt creation and revision procedures were aggregated. Procedures involving a trainee were identified. The rate of TIPS placement, revision, and trainee involvement were evaluated in the context of Medicare enrollment and number of diagnostic and interventional radiology residents as well as interventional radiology fellows using Accreditation of Graduate Medical Education (ACGME) data. Results: From 2010 to 2018, annual claims for de novo TIPS placement increased from 1,725 procedures to 1,947 procedures (+12.8%). When controlled for number of Medicare enrollees, this resulted in an increase of 4.8 to 5.0 (+4.0%) TIPS procedures per 100,000 beneficiaries. TIPS revisions increased from 645 procedures in 2010 to 932 (+45%) procedures in 2018. When controlled for Medicare enrollment, this represented an increase from 1.8 to 2.4 (+33%) TIPS revisions per 100,000 Medicare enrollees. Over time, the ratio of TIPS placements to TIPS revisions decreased from 2.7 to 2.1 (-29%), driven by a relatively higher increase of revisions compared to de novo placements. The number of TIPS placements involving a trainee increased from 17% to 26%. Similarly, the rate of trainee involvement in revisions increased from 18% to 29%. Ratio of TIPS placements and revisions per one thousand trainees increased 55% and 111%, respectively. Conclusions: The rate of TIPS placement and revisions continues to increase in the Medicare population, with a disproportionate increase in TIPS revisions compared to placements. Trainee involvement in these procedures has increased nationally from 2010 to 2018. Further research is needed to evaluate the disproportionate increase in TIPS revisions to placements in this population.
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