Session 2: Hepatology & Gastroenterology

Overview

Liver disease is one of the more overlooked complications of Telomere Biology Disorders (TBD), and Session 2 of Team Telomere’s 2026 Scientific Summit made a compelling case for why that needs to change. Speakers from Mayo Clinic, Lausanne University Hospital in Switzerland, and UPMC Children’s Hospital of Pittsburgh converged on a few consistent themes: liver involvement in TBDs is common (affecting somewhere between 40 and 80% of patients, depending on how it is measured), it is frequently missed by standard blood tests alone, and it often behaves differently than the liver disease clinicians are used to seeing.

A recurring thread was the distinction between classic cirrhosis (scarring of the liver) and a less familiar condition called portal sinusoidal vascular disease, or PSVD, in which patients develop serious complications of high blood pressure in the liver’s vessels without any scarring at all. Because PSVD can hide behind normal blood work and even a reassuringly normal liver stiffness scan, several speakers urged doctors to think of TBDs whenever they encounter unexplained PSVD, cryptogenic cirrhosis (cirrhosis with no obvious cause), or hepatopulmonary syndrome, a lung complication caused by liver disease.

The session opened with a mother’s account of her son Hamish’s extraordinary journey through a bone marrow transplant and, years later, a life-saving liver transplant for hepatopulmonary syndrome. The final talk extended that theme into the frontier of combined bone marrow, lung, and liver transplantation for patients whose TBD affects multiple organs at once, which is an approach that is still being refined but already changing outcomes for some of the most complex cases. These talks bookended the session and grounded the science in the patients that it aims to serve.

Highlights from Each Talk

Session Introduction and Background on Liver Manifestations in TBD: Dr. Douglas Simonetto, Mayo Clinic 

Dr. Douglas Simonetto, a transplant hepatologist at Mayo Clinic, opened the session by explaining how TBDs affect the liver, usually later in life than bone marrow or gut (median age 37). He described two main patterns: classic cirrhosis, or scarring, and portal sinusoidal vascular disease (PSVD), a less familiar condition that causes high blood pressure in the liver’s vessels without any scarring. Because standard blood tests often miss liver involvement, which affects an estimated 40 to 80% of patients, he emphasized the value of imaging tools like FibroScan and MRE for catching problems early.

Definitions and Surveillance for Liver Manifestations in TBD: Dr. Douglas Simonetto, Mayo Clinic

Dr. Simonetto next shared data from Mayo Clinic’s TBD clinic, where 60% of 121 patients had liver involvement. He highlighted a possible new pattern in which nearly half of the patients scanned with magnetic resonance elastography (MRE) were found to have fatty livers, and many of these patients were unusually young. He also noted that about a third of patients diagnosed with PSVD turned out to have an unrecognized TBD. His key message: relying on blood tests or imaging alone misses many patients, so combining both, especially MRE, gives doctors the best chance of catching liver involvement early.

Liver Involvement in Telomere Biology Disorders: Dr. Fraga Christinet Montserrat, Lausanne University Hospital (CHUV), Switzerland

Dr. Fraga Christinet Montserrat, a gastroenterologist and hepatologist from Lausanne University Hospital in Switzerland, shared that liver disease in TBDs is more common than most doctors realize. In her patients, PSVD was the most frequent finding, often marked by an enlarged spleen and low platelets. She found a strong link between PSVD and hepatopulmonary syndrome (in which the lungs are involved in live disease), and called it a red flag for TBDs. She noted that about a third of her patients with PSVD or cryptogenic cirrhosis turned out to have a TBD. Her key message: liver biopsy and multidisciplinary care are essential for accurate diagnosis.

Multi-Organ Transplants for TBD: Dr. Paul Szabolcs, UPMC Children’s Hospital of Pittsburgh 

Dr. Paul Szabolcs of UPMC Children’s Hospital of Pittsburgh described his team’s decade of experience combining bone marrow transplant with lung or liver transplant for patients whose TBD affects the immune system alongside another organ. TBDs are increasingly recognized as a cause of immune deficiency, and bone marrow transplants are performed with curative intent. His team has developed techniques, like harvesting bone marrow during multi-organ surgeries, to reduce risk for these complex patients. Because liver transplant survival is excellent, his team prioritizes a well-matched liver donor, while accepting a less ideal match for lung transplant when needed. This highlights the balance that transplant clinicians must find when a patient requires multiple transplants.

What This Means for the Field

Together, these talks point to a field working to catch up with a disease that has largely flown under the radar in hepatology. Speakers on two continents independently confirmed the same finding: roughly a third of patients diagnosed with unexplained PSVD or cryptogenic cirrhosis actually have an underlying TBD, which suggests that broader telomere testing in liver clinics could uncover many undiagnosed patients. There was also clear agreement that standard blood tests are not reliable enough on their own to screen for liver involvement in TBD, and that imaging, particularly magnetic resonance elastography where available, adds real diagnostic value that blood work alone would miss.

Dr. Simonetto’s early data suggesting fatty liver disease may represent a distinct, under recognized pattern in TBD is a new direction that both he and Dr. Montserrat flagged as needing more research. The connection between liver and lung involvement, including the observation that lung transplant patients may go on to develop faster liver complications, points toward the need for more integrated, whole-body surveillance for TBD patients rather than organ-specific care. Finally, Dr. Szabolcs’s multi-organ transplant program illustrates how far treatment has come for the most complex cases, while also showing that this work remains highly specialized and individualized. Multidisciplinary care, echoed by nearly every speaker, was emphasized as the clearest shared recommendation of the session.