A 55-year-old woman with hereditary haemorrhagic telangiectasia (HHT) underwent a left lateral liver bisegmentectomy (removal of segments 2 and 3) for hepatic-based arteriovenous malformations. This lesion determined a progressive fatigue and invalidating effort dyspnoea. The postoperative course was uneventful and the patient is currently doing well at 4 years after surgery. To our knowledge, this is the first case of hepatic-based HHT treated with liver resection. This anecdotal report should promote the evaluation of this approach in order to define its role in the treatment of liver involvement in this rare disease.

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1478-3231.2007.01588.xDOI Listing

Publication Analysis

Top Keywords

hereditary haemorrhagic
8
haemorrhagic telangiectasia
8
non-transplant surgical
4
surgical approach
4
approach liver-based
4
liver-based hereditary
4
telangiectasia report
4
report 55-year-old
4
55-year-old woman
4
woman hereditary
4

Similar Publications

A homozygous individual for ITGB7 gene mutation, an autosomal recessive congenital disorder in Holstein cattle, was retrospectively identified by genotyping of 195 stored blood from patients less than 12 months of age. Other 24 patients (12.3%) showed heterozygous.

View Article and Find Full Text PDF

Apolipoprotein E (APOE) has multiple functions in metabolism and immunoregulation. Its common germline variants APOE2, APOE3 and APOE4 give rise to three functionally distinct gene products. Previous studies reported yin-yang roles of APOE2 and APOE4 in immunological processes, but their effects in hematopoietic stem cell transplantation (HSCT) have never been studied.

View Article and Find Full Text PDF

Background: Hereditary angioedema (HAE) is a rare genetic disorder with potentially life-threatening consequences, traditionally diagnosed by conventional laboratory methods that can be resource intensive and inconvenient. Incorporating dried blood spot (DBS) tests may be a promising alternative for diagnosing HAE and family screening.

Objective: This study aimed to validate DBS with conventional laboratory assays among confirmed C1 esterase inhibitor (C1-INH) HAE patients and assess the utility of DBS in a Screening Programme Providing Outreach for Testing Hereditary Angioedema (SPPOT-HAE).

View Article and Find Full Text PDF

The question of whether scuba diving is safe for patients with a history of venous thromboembolism (VTE) remains unanswered. Cases of VTE have been reported after decompression accidents but not following properly conducted dives. However, the risk of VTE and bleeding on anticoagulant therapy during diving has yet to be defined.

View Article and Find Full Text PDF

Introduction: Newborn screening (NBS) programs for a defined set of eligible diseases have been enormously successful, but genomic NBS allowing for detection of additional treatable disorders has not been broadly implemented. All 3 types of primary hyperoxaluria (PH1-3) are rare autosomal recessive diseases caused by distinct defects of glyoxylate metabolism that are diagnosed genetically with certainty. Early diagnosis and treatment are mandatory to avoid renal failure or sequalae associated with persistent hyperoxaluria.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!