A Case of Hereditary Hemorrhagic Telangiectasia Suspected due to Anemia during Anticoagulation Therapy after Thrombectomy

Abstract

Objective: Hereditary hemorrhagic telangiectasia (HHT) may be associated with paradoxical cerebral embolism caused by pulmonary arteriovenous malformation (PAVM). We present a case of HHT diagnosed by progressive anemia during anticoagulant therapy following mechanical thrombectomy. Case Presentation:The patient was a 59-year-old woman who presented with acute stroke due to intracranial large vessel occlusion. Mechanical thrombectomy was successfully performed and the thrombus was retrieved. Postoperatively, anticoagulant therapy was started; however, she developed progressive anemia, which was associated with marked weakness, although no bleeding source was detected. Thorough postoperative imaging studies revealed PAVMs, which may be a source of cerebral embolism. It was noted that she frequently had episodes of epistaxis and a family history of PAVM. Embolization of PAVMs was performed to prevent the recurrence of embolic disorders. After this procedure, anticoagulant therapy was safely discontinued, which resulted in the improvement of anemia. Conclusion:Physicians need to consider the possibility of HHT associated with PAVM which can cause paradoxical cerebral embolism.

Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia

“…Patient characteristics are shown in Table 1 and Figure S1. Detailed clinical manifestations of some patients have been reported elsewhere 4–6 . Sequencing analyses identified 11 distinct heterozygous variants in ACVRL1 and ENG from each of the families analyzed, which do not exist in the general population according to the Genome Aggregation Database (gnomAD v4.0; https://gnomad.broadinstitute.org/) and the Human Genetic Variation Database (HGVD; https://www.hgvd.genome.med.kyoto-u.ac.jp/index.html).…”

“…Long‐read DNA sequencing technologies can access such complex and large genomic changes and will be increasingly used as powerful molecular diagnostic tools for rare genetic diseases including HHT 18 . Early and definitive diagnosis of HHT is required to provide appropriate medical care based on established guidelines and prevent serious conditions such as paradoxical cerebral embolism after middle age, as reported in patients 8 and 10 2,5,6 …”

“…2,5,6 AUTHOR CONTRIBUTIONS SM and HA designed the study and HA coordinated it. SN, ACN, KI, TI, YN, YI, YT, RI, HY, and TK collected DNA samples and provided clinical data.…”

“…[4][5][6] Sequencing analyses identified 11 distinct heterozygous variants in ACVRL1 and ENG from each of the families analyzed, which do not exist in the general population accord-…”