Case Presentation:This is a 59 years old Caucasian female with past medical history of hypothyroidism who came to our hospital after having a syncopal episode. She reported a history of recurrent epistaxis for the last one year. She has no pertinent family history. Physical examination revealed pale conjunctiva along with mucocutaneous telangiectasias on her tongue and lips. Laboratory investigation demonstrated a severe iron deficiency anemia with a HgB of 3.8 mg/dl, MCV of 62.5 fL, MCH 18 pg, MCHC 28.7 %, RDW 23.2 %, TIBC 412 mg/dL, Ferritin 4.7 ng/mL, Transferrin 294 mg/dL, and Iron 10 mcg/dL.
Upon a routine chest x-ray the patient was found to have nodular opacity of the right hilum. CT scan of chest, with contrast, revealed two highly vascular parenchymal lesions on the right, middle, and lower lobes of the lung. These lesions were highly suggestive of pulmonary AVMs.
Therefore, based on the Curaçao criteria, we diagnosed our patient as having Hereditary hemorrhagic telangiectasia (HHT). She fulfills 3 out of 4 criteria: epistaxis, pulmonary AVM and mucocutaneous telangiectasias.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease in which abnormal arteriovenous communications, called telangiectasias, typically affect the skin, nose, mucosal surfaces, lungs, brain and gastrointestinal tract. Clinical diagnosis, per the Curaçao diagnostic criteria, is based on the presence of at least three of the following characteristics: recurrent epistaxis, mucocutaneous telangiectasias, evidence of autosomal dominant inheritance, or visceral arteriovenous malformations (AVM). We report a case of a 59 years old female patient who presented with syncope, severe iron deficiency anemia and epistaxis.
The worldwide incidence of HHT is between 1/5000 and 1/8,000, 90% of which are undiagnosed. Approximately 70% of individuals develop some clinical signs by the age of 16, rising to over 90% by the age of 40. Of all patients with HHT: epistaxis is seen in 90%; telangiectasia of skin, lip, or mouth in 80%; pulmonary arteriovenous malformations (AVMs) in 30%; hepatic AVMs in <30%; gastrointestinal bleeding in 15% and cerebral AVMs in 10%. Although epistaxis and gastrointestinal bleeding can result in anemia, patients diagnosed with hereditary hemorrhagic telangiectasia rarely present with severe anemia. Our case represents a presentation of HHT beyond the typical reported age group and with a concomitant severe iron deficiency anemia.
Diagnosis of HHT relies mainly on maintaining a broad differential diagnosis, proper physical examination and the ability to tie different laboratory and imaging findings into the Curaçao diagnostic criteria.
Thorough physical examination and a high index of clinical suspicion are critical when assessing patients with severe iron deficiency anemia. Although HHT usually presents prior to the age of 40, a higher degree of suspicion and meticulous physical examination could enable expedited diagnosis of even a rare disease entities like HHT.