URGENT UPDATE: New findings from the Comprehensive HHT Outcomes Registry reveal that patients with Hereditary Hemorrhagic Telangiectasia (HHT) face significantly more severe complications than previously understood. This alarming data was presented just hours ago at the 67th American Society of Hematology (ASH) Annual Meeting in Orlando, Florida by Hanny Al-Samkari, MD, a leading expert in hematology and oncology at Massachusetts General Hospital.
The analysis highlights that HHT, the second most common inherited bleeding disorder, causes frequent and debilitating complications. Al-Samkari emphasized the urgency of addressing this neglected condition, stating, “For every man with hemophilia, there is ≥1 man and 1 woman with HHT – it’s twice as common as hemophilia.”
The study included 600 participants from 15 HHT centers across the United States, covering over 2,400 data elements. The findings show that a staggering 95% of patients experienced recurrent spontaneous epistaxis, with 60% developing this symptom before age 13. Furthermore, 76% of patients experienced moderate-to-severe mucocutaneous bleeding, necessitating urgent medical interventions.
Despite the high incidence of HHT complications, the condition often goes undiagnosed until adulthood, leading to significant morbidity. Al-Samkari pointed out that “most intracranial hemorrhages in HHT occur before age 25,” yet the average age of diagnosis is approximately 37 years. This diagnostic delay raises critical concerns about the management of this serious condition.
The study also uncovered that 68% of participants were diagnosed with anemia, with many requiring intravenous iron and blood transfusions. Additional serious complications reported included heart failure in 41 patients and pulmonary hypertension in 44 patients. These figures underline the urgent need for awareness and effective treatment options for HHT.
Al-Samkari’s research underscores the severe implications of HHT, particularly for young patients who are most at risk for early complications. “These very concerning manifestations, particularly intracranial hemorrhage, can affect people while they’re young,” he warned.
The findings prompt an urgent call to action for the medical community to prioritize research and treatment innovations for HHT, which has historically been overlooked. With no approved therapies available, patients often rely on surgical procedures to manage bleeding, a practice that Al-Samkari argues is inadequate.
As the medical community grapples with these shocking revelations, the emphasis is now on improving diagnostic processes and developing effective treatments for those suffering from HHT. The urgency of this matter cannot be overstated, as many patients live with significant health challenges that could be addressed with better awareness and intervention.
Stay tuned for more updates on this developing story as the medical community reacts to these groundbreaking findings.
