PMID: 9528135Apr 7, 1998Paper

Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia). Report of 30 cases

Acta otorrinolaringológica española
C Morales AnguloJ J Rama Quintela

Abstract

To study the prevalence and modes of presentation of hereditary hemorrhagic telangiectasia (HHT) in Cantabria, Spain. A retrospective study was made of all patients diagnosed as HHT in Cantabria in the last 20 years (1976-1995). The presence/absence of family history, recurrent nosebleed, mucosal and cutaneous telangiectasia, visceral involvement, and course of the disease were evaluated. Thirty patients ranging in age from 17 to 75 years were diagnosed as HHT in the study period. Most of them had a family history of recurrent nasal bleeding. The main symptom was nosebleed. Pulmonary arteriovenous fistulas were found in 7 patients and gastrointestinal manifestations in 10 patients. Five patients died of complications directly attributable to the disease. The minimum prevalence of HHT in Cantabria is 1:12,200, Patients with recurrent nosebleed, particularly if a family history of epistaxis is present, should undergo exploration of the oral cavity for telangiectasia. Early diagnosis of HHT can help to avoid unnecessary diagnostic procedures and contribute to the early detection of associated visceral malformations. The treatment of HHT should be individualized.

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.