Multidisciplinary approaches to coexisting Glanzmann thrombasthenia and juvenile polyposis syndrome

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder from defects in the αIIbβ3 integrin receptor, impairing platelet aggregation and often overlooked due to normal platelet counts. Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder with multiple gastrointestinal polyps and increased colorectal cancer risk. Their co-occurrence is exceedingly rare and challenging. We report a 19-year-old male who was diagnosed with GT at age 5 after rectal bleeding from a gastrointestinal polyp requiring polypectomy and transfusions; platelet aggregation studies confirmed GT. At age 9, genetic testing established JPS. In 2014 he developed recurrent severe bleeding-hematochezia, melena, and hemarthrosis-managed with recombinant activated factor VII (rFVIIa), blood transfusions, and supportive care including vitamin D. Additional findings included duodenal lymphangioma requiring resection, vitamin D deficiency with bone pain and complex regional pain syndrome, and chronic idiopathic hypertension treated with antihypertensives. This case highlights rFVIIa effectiveness and the need for multidisciplinary, long-term follow-up and care.