A CASE OF REFRACTORY IRON DEFICIENCY ANEMIA REVEALING HEREDITARY HEMORRHAGIC TELANGIECTASIA

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant vascular disorder. It is characterized by abnormal blood vessel formation, leading to arteriovenous malformations (AVMs) and telangiectasias, which can cause chronic or acute bleeding. This report presents the case of a 44-year-old Saudi female with severe recurrent iron deficiency anemia (IDA) of an unknown etiology, highlighting the diagnostic challenges and the importance of a thorough clinical and family history.

The primary objective of this case study is to present the clinical presentation, diagnostic approach, and definitive diagnosis of HHT in a patient with recurrent, severe IDA secondary to chronic blood loss. The case emphasizes the classic triad of recurrent epistaxis, a strong family history, and the presence of mucocutaneous telangiectasias as key indicators for this diagnosis.

A systematic diagnostic approach was undertaken to investigate the underlying cause of the patient's chronic anemia. This included consultations with gastroenterology and hematology, upper and lower endoscopies to exclude occult gastrointestinal bleeding, and specific laboratory tests such as platelet function and von Willebrand factor assays to rule out other hereditary bleeding disorders. A fiber optic nasopharyngoscopy was performed to visualize the nasopharyngeal mucosa. The diagnosis was ultimately confirmed by fulfilling the Curaçao diagnostic criteria for HHT, based on a comprehensive evaluation of her clinical and family history.

This case underscores the importance of considering HHT in the differential diagnosis of patients with severe, chronic iron deficiency anemia, particularly when accompanied by recurrent epistaxis and a positive family history. The successful diagnosis was contingent upon a high index of suspicion and a systematic investigation that fulfilled the established clinical criteria.