New York, NY, November 16, 2018 --(PR.com
)-- Xavier Verhelst, MD, PhD and his team researched on the “Severe Hepatic and Pulmonary Involvement in Rendu-Osler-Weber Syndrome.. The research paper was published by S. Karger AG, Basel.
The group of scientists reported the case of a young woman with hereditary hemorrhagic telangiectasia (HHT) with severe liver involvement and pulmonary shutting. On examination, they saw that the medical imaging of this woman displayed severe shutting that can occur in these patients who often are asymptomatic.
The main objective of this study conducted by Verhelst and team was to highlight the role of liver transplantation in HHT with hepatic involvement.
Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder affecting 1 in 5,000-8,000 people. The disease is inherited as an autosomal dominant trait. HHT gene mutations are located in genes encoding proteins involved in the transforming growth factor (TGF)- β superfamily signalling in vascular endothelial cells, leading to the development of abnormal vascular structures.
On further analysis, the team observed that the clinical HHT presentation patterns vary widely among and within families, ranging from dilated microvessels to large arteriovenous malformations (AVM). According to Verhelst, these abnormalities may lead to anaemia, recurrent epistaxis, and gastrointestinal blood loss.
It was also observed that these patients developed AVMs of the pulmonary, hepatic, and cerebral circulation. AVMs affect the majority of patients but often remain silent.
Verhelst and the team assessed that in a minority of patients; major complications may develop over time. This could include severe anaemia from chronic nasal and gastrointestinal blood loss, stroke, deep venous thromboembolism, symptomatic liver disease, and severe pulmonary hypertension.
The team of scientists based their entire study on the case which was referred them. The case study as mentioned above was about a 36-year-old woman who suffered from recurrent epistaxis since her childhood. She was referred due to elevated liver enzymes.
They examined her case and saw that she reported no specific complaints. At clinical examination, a vascular sound could be heard in the epigastric region at auscultation. Abdominal ultrasonography with duplex showed multiple large vascular structures in the liver. The importance of these vascular malformations was confirmed using a CT scan.
HHT or Rendu-Osler-Weber disease is an autosomal dominant dysplasia characterized by widespread cutaneous, mucosal, and visceral telangiectasias. These telangiectasias, the hallmark of the disease, arise from the dilatation of postcapillary venules, which directly fuse with an arteriole, thus bypassing the capillary system.
The study showed that there was a chance that clinical presentation varied from mild to very extensive. Complications occurred when visceral organs are affected, such as the brain, the lungs, and the liver.
During the course of the entire research, Verhelst found that the liver involvement could be discrete and limited to vascular derangements on a microscopical level and may range to large direct shunts between the hepatic arteriolar branches and sinusoids (leading to arteriovenous shunts), between the portal vein and the central veins (portovenous shunts), and between the hepatic artery and the portal vein.
Verhelst and the team analysed the case in hand and noticed that their patient suffered from the first scenario. In addition to this, they also felt that there was a probability that hepatic malformations lead to liver enlargement and (peri)portal fibrosis and a noncirrhotic nodular transformation of the liver.
It was seen that an increased number of focal nodular hyperplasias was witnessed in these patients and patients with HHT were generally asymptomatic.
In conclusion, the study conducted by them analysed that the main risk of large arteriovenous shunting was the development of high-output congestive heart failure.
Thus, their research suggests that once the diagnosis of hepatic involvement in HHT is established, periodical echocardiography must be carried out.
Velherst and his team have successfully deduced that liver transplantation can be the only definitive curative option for patients with HHT with advanced hepatic involvement. On scrutiny, it was found that the main indications for liver transplantation were a high-output cardiac failure, severe portal hypertension, and extended biliary necrosis.
Moreover, the outcome after liver transplantation was excellent, with a 10-year patient and graft survival rate of 83%.
Velherst’s accomplishment won great acclaim among the scientists and it has set a great precedent for the young generation of researchers.