Definite hereditary hemorrhagic telangiectasia in a 60-year-old black Kenyan woman: a case report

We present a case of a 60-year-old Kenyan woman who was admitted 1 year ago to a hospital in western Kenya with complaints of epistaxis and right-sided chest pain for the preceding 3 days. She reported an 11-year history of recurrent spontaneous epistaxis that had worsened 3 days before admission. Apart from one episode of postpartum hemorrhage (PPH) in the past that had required blood transfusion, she had no other history of bleeding tendencies. Her right-sided chest pain was pricking in nature and radiated to her upper back. She had associated shortness of breath but no cough or platypnea. She also complained of severe headache that she described as global, persistent, and not worsened by light but associated with dizziness. She had never been on any medications for the epistaxis.

She had two previous admissions: one 17 years ago for PPH that required blood transfusion and another in early childhood for malaria. She is a widow, mother of five children, and a first-born in a family of seven. Two of her sisters had histories of mild recurrent epistaxis. She had a history of occasional alcohol use but had stopped 4 years before admission. She had no history of tobacco use.

Her physical examination revealed a middle-aged woman in fair general condition with severe pallor and a tinge of jaundice. She had no cyanosis or lymphadenopathy. Her vital signs were blood pressure of 95/60 mmHg, pulse rate of 100 beats/minute, respiratory rate of 22 breaths/minute, and axillary temperature of 37 °C. Her oxygen saturation by pulse oximetry was 95 % on room air, which dropped to 92 % 5 minutes after changing positions from supine to upright.

Her oral examination revealed multiple, guttate-like, erythematous blanching lesions with a tendency to coalesce on the edges of the tongue, as well as a few grouped erythematous, well-demarcated, blanching lesions on the hard palate (Fig. 1).

Her cardiovascular examination was notable for mild tachycardia, a bounding pulse, and a hemic murmur. She had hepatomegaly of 7 cm below the costal margin with a liver span of 17 cm and a bruit on auscultation. The rest of her systemic examination was unremarkable.

Her laboratory investigations revealed normal activated partial thromboplastin time, prothrombin time, international normalized ratio, and bleeding time. Her complete blood count showed hemoglobin of 4.1 g/dl, mean corpuscular volume of 60.6 fl, a normal white blood cell count, and slight thrombocytosis of 471 × 10³/μl. Her peripheral blood smear showed a decreased red blood cell count with moderate microcytosis and marked hypochromasia, suggestive of iron deficiency anemia. She had slightly elevated alkaline phosphatase and total bilirubin levels. A chest radiograph demonstrated opacity in the right midzone, and a transthoracic contrast echocardiography (TTCE) with agitated saline confirmed the presence of a right-to-left shunt (Additional file 1: Video 1). Considering either a large atrium-level or pulmonary shunt, we then performed contrast-enhanced chest computed tomography (CT), which revealed a large pulmonary arteriovenous malformation (AVM) and multiple hepatic AVMs (Fig. 2).

At presentation, we considered inherited coagulopathies such as von Willebrand disease, given the histories of her two siblings, chronic liver disease, and platelets disorders as possible causes of epistaxis. These were ruled out by normal coagulation studies and bleeding time, however.

The diagnosis of HHT is based on the international consensus diagnostic criteria (the Curacao diagnostic criteria), which use clinical findings of epistaxis, mucocutaneous telangiectasias, visceral vascular malformation, and positive family history (Table 1) [4]. Our patient was diagnosed with definite HHT, as she fulfilled three criteria. Although she had reported that two her siblings had histories of mild epistaxis, this criterion was not considered in this case, as the siblings’ diagnoses were not confirmed to be HHT.

Diagnosis of this rare disease is a challenge in resource-limited settings due to its variability in presentation and lack of clear diagnostic modalities. As shown in our patient, late diagnosis is due to many factors, including low clinical suspicion among clinicians, difficulties in accessing health care by the patient, and economic costs associated with further imaging. The costs of these investigations were waived for our patient.

The patient’s epistaxis was controlled by repeated nasal packing. She also received 1 g of tranexamic acid intramuscularly, which was continued orally at 500 mg three times per day for 5 days. Her epistaxis stopped 5 days after admission. She also received a transfusion of 6 U of whole blood and was put on oral ferrous sulfate 325 mg three times daily. Her repeat complete blood count showed hemoglobin of 12 g/dl 10 days after admission. She was discharged to home on oral ferrous sulfate with follow-up in our clinic, as other clinical management procedures were not available. One year after her discharge, our patient was still experiencing intermittent epistaxis and remained on iron therapy.