A 14-year-old boy presents to his pediatrician for evaluation of recurrent epistaxis, which has been occurring more frequently over the last two years. He has no other symptoms. The patient is adopted, and his adoptive father believes the patient’s biological mother had a similar condition. Physical examination reveals mucocutaneous telangiectasias on the lips and oral mucosa. Lab tests are ordered and indicate a microcytic anemia, normal platelets, and normal creatinine.
Which of the following additional features is most likely present in this patient?
D) Pulmonary arteriovenous malformation
This patient likely has hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. It is an autosomal dominant vascular disorder that is characterized by epistaxis, mucocutaneous telangiectasias on the lips, oral mucosa, and fingertips, and microcytic anemia due to occult bleeding in the gastrointestinal tract. Arteriovenous malformations frequently affect the pulmonary, hepatic, and cerebral circulation.
Answer choice A: Arthralgias, is incorrect. IgA vasculitis (formerly Henoch-Schonlein purpura) occurs after an upper respiratory infection due to IgA, C3, and fibrin deposition in small vessels. It results in palpable purpura/petechiae on the lower extremities, arthritis/arthralgias, abdominal pain (often with intussusception), and renal disease. Young boys may also experience scrotal pain/swelling.
Answer choice B: Auto-antibodies versus ADAMTS-13, is incorrect. Antibodies against ADAMTS-13 is a feature of thrombotic thrombocytopenic purpura (TTP), which results in large von Willibrand Factor multimers that activate coagulation. Renal insufficiency is expected along with microangiopathic hemolytic anemia, thrombocytopenia, neurological changes, and fever.
Answer choice C: Hamartomatous gastrointestinal polyps, is incorrect. This would be a feature of Peutz-Jegher syndrome, an autosomal dominant condition. Although Peutz-Jegher syndrome also presents with mucocutaneous macules, these are caused by hyperpigmented macrophages and are not telangiectatic as in HHT.
Answer choice E: Tracheal narrowing with ulceration, is incorrect. This is a feature of granulomatosis with polyangiitis (GPA), a vasculitis affecting capillaries and small vessels. Although GPA can also present with epistaxis and may have pulmonary nodules on chest x-ray, renal involvement would be expected.
Key Learning Point
Hereditary hemorrhagic telangiectasia (HHT) typically presents with epistaxis, mucocutaneous telangiectasias, microcytic anemia due to occult bleeding, and arteriovenous malformations. A family history is expected for this autosomal dominant disorder.
