Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that affects blood vessels. At our company, we are dedicated to creating cutting-edge genetic testing reagents/kits and diagnostic equipment to address the challenges encountered in HHT diagnosis. Serving as your reliable partner in the realm of HHT diagnostic research, we deliver effective and all-encompassing solutions to fulfill all your scientific research requirements.

Overview of Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT), alternatively known as Osler-Weber-Rendu syndrome, is a rare genetic condition that influences the formation of blood vessels. Individuals with HHT develop abnormal blood vessels that are fragile and prone to bleeding, leading to various complications throughout the body. HHT is an autosomal dominant genetic disease with a prevalence of 1 in 5000 people.

Fig. 1 Main pathways involved in the pathophysiology of HHT. (Viteri-Noël, et al., 2022)

Pathogenesis of Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is attributed to mutations in genes within the transforming growth factor-beta (TGF-β) signaling pathway, with ENG (endoglin) and ACVRL1 (activin receptor-like kinase 1) being the most frequently mutated genes.

Gene mutations disrupt the normal function of the TGF-β signaling pathway, leading to abnormal proliferation, migration, and differentiation of endothelial cells, resulting in the characteristic fragile blood vessels and arteriovenous malformations (AVMs) seen in HHT.

Diagnostic Development for Hereditary Hemorrhagic Telangiectasia

Developing effective in vitro diagnostic (IVD) products for hereditary hemorrhagic telangiectasia (HHT) is crucial for early detection, accurate diagnosis, and personalized therapeutics of this rare genetic disorder. The primary development strategies involve gene testing and biomarker identification related to HHT. Currently, there are several HHT diagnostic kits available on the market.

Genetic Testing Kit

The kit is crafted for identifying mutations in genes linked to HHT, including ENG and ACVRL1. It employs sophisticated molecular methodologies like PCR or next-generation sequencing (NGS) to pinpoint particular gene variants linked to HHT.

Circulating Protein Detection Kit

Circulating proteins can serve as valuable biomarkers for HHT disease identification and monitoring. The kit mainly uses ELISA, western blotting, and protein microarray technology to detect key circulating proteins such as endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1).

Our Services

Specializing in tailored in vitro diagnostic (IVD) solutions for rare genetic disorders like hereditary hemorrhagic telangiectasia (HHT), our company is dedicated to creating custom genetic testing kits that precisely identify gene mutations associated with HHT. We also contribute to the development of circulating protein detection kits to monitor biomarkers of HHT and improve the portability of diagnostics. These kits are designed to be used in conjunction with IVD devices to achieve maximum sensitivity, specificity, and detection efficiency, facilitating effective disease management.

IVD Product Development Services

We also provide point-of-care diagnostics and companion diagnostics development services for hereditary hemorrhagic telangiectasia (HHT). These services enable rapid detection of biomarkers associated with HHT, facilitating early diagnosis and personalized therapeutic strategies tailored to affected individuals.

If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.