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A 56-year-old man presented with fatigue and exertional dyspnea for 2 weeks, and few episodes of black tarry stools over the last 1 month. The patient endorsed recurrent episodes of epistaxis since his mid-20s and intermittent black tarry stools for several years. Family history was remarkable for similar problems in his father and brother. On physical examination, the patient had tachycardia, pallor, and mucosal and skin lesions shown in Fig. 1. Laboratory studies revealed a hemoglobin of 5.8 g/dL, mean corpuscular volume of 69 fL, and a serum iron profile consistent with iron deficiency. Platelet count and coagulation studies were normal.
The patient has Osler–Weber–Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT). HHT is an autosomal dominant vascular disorder. The most commonly reported mutations occur in the endoglin (HHT1) or ACVRLK1 (HHT2) genes affecting the TGF-β signaling pathway [
]. The disease has variable penetrance and expression, with over 70% patients developing some symptoms by the age of 16 years and over 90% presenting by the age of 40 years [
Patients usually present with recurrent spontaneous epistaxis, mucocutoaneous, gastrointestinal bleeding, and iron deficiency anemia. Large arteriovenous malformations can also involve the lungs, liver, and rarely the brain and spine. Diagnosis of HHT is based on the international consensus criteria (Curacao criteria) and can be further confirmed by genetic testing [
]. The criteria essentially include recurrent epistaxis, mucocutaneous telangiectasias, visceral involvement, and a first-degree relative with HHT. The presence of 3–4 features convey a “definite” diagnosis, the presence of 2 features make it a “suspected” diagnosis, while only one makes the diagnosis unlikely. Genetic testing for mutations involving endoglin, ALK-1, or SMAD4 can help in the diagnosis but are not needed.
The presenting problems (e.g., epistaxis, gastrointestinal bleeding, and iron deficiency) are managed similarly as in patients without HHT. Screening for pulmonary and cerebral arteriovenous malformations have been recommended for these patients.
Contributors
AM provided care for the patient. All authors wrote and revised the manuscript.
Funding information
This report received no specific funding.
Conflict of interests
There are no competing interests.
Informed consent
Written consent to publication was obtained.
Ethics committee approval
Not applicable.
References
Dakeishi M.
Shioya T.
Wada Y.
et al.
Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan.
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