Gastrointestinal Complications of Hereditary Haemorrhagic Telangiectasia: Unravelling the Potential Link with Protein Losing Enteropathy

This comprehensive review delves into the clinical features of Hereditary Haemorrhagic Telangiectasia (HHT), with a specific emphasis on gastrointestinal manifestations. The exploration centres on a unique case presenting with Protein Losing Enteropathy (PLE). Historically, PLE has not been documented as a recognized complication of HHT, making this case an unprecedented and intriguing exploration into potential gastrointestinal implications of the disorder. The review synthesizes existing literature on HHT-associated gastrointestinal complications, highlighting the diverse spectrum of vascular malformations. While bleeding and iron deficiency anaemia are well-documented, this review advocates for a broader understanding of gastrointestinal involvement. Our case study centres on a patient with a history of recurrent epistaxis and iron deficiency anaemia (IDA) who, upon presentation, exhibited clinical features indicative of Protein Losing Enteropathy (PLE). This prompted a comprehensive investigative approach, which ruled out the common aetiologies associated with PLE. Notably, genetic screening confirming HHT shifted the diagnostic paradigm, challenging prevailing notions of HHT-related gastrointestinal complications. The review explores potential mechanistic links between HHT and PLE, incorporating insights into vascular malformations, altered hemodynamic and genetic factors. By presenting this unique case and challenging existing perspectives, the review advocates for increased awareness of PLE in HHT. Recognizing this association holds significant implications for timely diagnosis and comprehensive management. The shift in perspective prompted by this review encourages further research into the intricate interplay between HHT and gastrointestinal manifestations particularly PLE, potentially reshaping clinical practice.