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Review
. 2022 Aug;36(8):e24571.
doi: 10.1002/jcla.24571. Epub 2022 Jun 26.

A case of hereditary hemorrhagic telangiectasia and literature review

Yu Han  1   2 , Bingjie Ding  2 , Mengjuan Li  2 , Xuewen Song  2 , Liu Liu  3 , Hu Zhou  2
Affiliations
Review

A case of hereditary hemorrhagic telangiectasia and literature review

Yu Han et al. J Clin Lab Anal. 2022 Aug.

Abstract

Background: To discuss the clinical features of a patient with hereditary hemorrhagic telangiectasia (HHT).

Methods: The clinical data of one patient with HHT are retrospectively analysed. In addition, we review the relevant literature.

Results: A 32-year-old male patient was admitted to the hematology outpatient department of our hospital and presented with intermittent epistaxis for 24 years. In recent years, he was diagnosed with iron deficiency anemia. The nasal endoscopic examination showed telangiectasia at the front of the right-middle turbinate and the left nasal cavity. He had ENG genetic mutation positivity.

Conclusions: Patients with HHT may suffer from many complications, including bleeding, anemia, iron deficiency, and high-output heart failure. These patients may have telangiectasias and arteriovenous malformations in various organs.

Keywords: anemia; hemorrhage; telangiectasia.

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Conflict of interest statement

All authors declare that there is no conflict of interest.

Figures

FIGURE 1
FIGURE 1
The first one is reference sequence, and the second one is the patient's. Analysis of ENG gene variation in the HHT patient suggested ENG heterozygous variation. A duplication of c.1714_1717 resulted in a frameshift mutation of asparagine at position 573 of the corresponding protein sequence (p.N573fs)
See this image and copyright information in PMC

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