Respiratory Tract Infection Leading to the Diagnosis of Hereditary Hemorrhagic Telangiectasia in a Puerto Rican Patient: A Case Report

TL;DR

A Puerto Rican patient was diagnosed with hereditary hemorrhagic telangiectasia after presenting with a respiratory infection and iron deficiency anemia.

Contribution

This case highlights the underreported prevalence of HHT in Puerto Rican and Hispanic populations.

Findings

The patient tested positive for a pathogenic variant in the ACVRL1 gene associated with HHT.

The case underscores the need for better epidemiological data on HHT in Hispanic populations.

The patient's symptoms, including nosebleeds and anemia, led to the HHT diagnosis.

Abstract

Hereditary hemorrhagic telangiectasia (HHT), also known as Olser-Weber-Rendu, is a genetic disorder characterized by abnormal blood vessel formations. Inherited in an autosomal dominant pattern, the condition manifests through symptoms such as nosebleeds (epistaxis), spider-like blood vessels (telangiectasias) in mucous membranes often appearing as spots or lesions, and abnormal connections between arteries and veins. Here we present the case of a 66-year-old male who came to the emergency department (ED) with symptoms consistent with a respiratory tract infection. Relevant lab tests revealed a pattern of iron deficiency anemia, leading to a referral for management. Further investigation uncovered a long history of spontaneous nosebleeds, prompting a referral for genetic sequencing and analysis in the hopes of ruling out bleeding disorders. The test results were positive for a heterozygous pathogenic variant in the ACVRL1 gene, a gene associated with HHT and pulmonary arterial hypertension (PAH). Hereditary hemorrhagic telangiectasia is considered a relatively common disorder; however, there is a notable lack of comprehensive data regarding its prevalence within the Puerto Rican and broader Hispanic populations. This knowledge gap is significant because it hampers the ability to understand the full scope of the condition's impact and how it might present differently in diverse genetic backgrounds. Our goal is to enhance the understanding of HHT's prevalence and manifestations in these populations. This contribution is intended to support and stimulate further research, which could lead to more accurate epidemiological data, improved diagnosis, and a better understanding of the condition.