BIOMAT Database Logo BIOMAT Database Logo

Hereditary hemorrhagic telangiectasia: a rare cause of severe anemia. 2007

José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
Pulmonology Department, Santa Maria University Hospital, Federal University of Santa Maria, Santa Maria, RS, Brazil.

Hereditary hemorrhagic telangiectasia is an autosomal dominant disease in which arteriovenous communications are typically seen in the skin, mucosal surfaces, lungs, brain and gastrointestinal tract. This disease typically presents as epistaxis, gastrointestinal bleeding and arteriovenous malformations (in the brain and lungs). Although the epistaxis and gastrointestinal bleeding can result in anemia, patients diagnosed with hereditary hemorrhagic telangiectasia rarely present severe anemia. Herein, we report the case of a 49-year-old man with severe anemia and undiagnosed hereditary hemorrhagic telangiectasia.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D004844 Epistaxis Bleeding from the nose. Nose Bleed,Nosebleed,Nasal Bleeding,Nosebleeds,Bleeding, Nasal,Bleedings, Nasal,Nasal Bleedings,Nose Bleeds
D006471 Gastrointestinal Hemorrhage Bleeding in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Hematochezia,Hemorrhage, Gastrointestinal,Gastrointestinal Hemorrhages,Hematochezias
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013683 Telangiectasia, Hereditary Hemorrhagic An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA. Osler-Rendu Disease,Rendu-Osler-Weber Disease,Weber-Osler Disease,Weber-Osler Syndrome,Hereditary Hemorrhagic Telangiectasia,Osler's Disease,Osler-Rendu-Weber Disease,Osler-Weber-Rendu Syndrome,Telangiectasia, Hereditary Hemorrhagic, Type 1,Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber,Hemorrhagic Telangiectasia, Hereditary,Osler Disease,Osler Rendu Disease,Osler Rendu Weber Disease,Osler Weber Rendu Syndrome,Rendu Osler Weber Disease,Weber Osler Disease,Weber Osler Syndrome
D018798 Anemia, Iron-Deficiency Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased. Iron-Deficiency Anemia,Anemias, Iron-Deficiency,Iron-Deficiency Anemias,Anemia, Iron Deficiency,Anemias, Iron Deficiency,Iron Deficiency Anemia,Iron Deficiency Anemias

Related Publications

José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
Hereditary Hemorrhagic Telangiectasia: A Rare Cause of Anemia.
August 2019, Cureus,
José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
[Hereditary hemorrhagic telangiectasia. A rare treatable cause of stroke].
August 2005, Der Nervenarzt,
José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
Hereditary hemorrhagic telangiectasia: rare cause of pulmonary hypertension?
March 2010, Arquivos brasileiros de cardiologia,
José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
[Hereditary hemorrhagic telangiectasia as a cause of iron-deficiency anemia].
December 1993, Revista clinica espanola,
José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
A rare cause of embolic stroke in hereditary hemorrhagic telangiectasia.
January 2014, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association,
José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
[Hereditary hemorrhagic telangiectasia presenting with hematuria and severe anemia].
July 1995, Harefuah,
José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
Rare Cause of Hypoxemia in a Toddler: New Diagnosis of Hereditary Hemorrhagic Telangiectasia.
June 2023, American journal of respiratory and critical care medicine,
José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
A rare case of pulmonary arterio-venous malformation with recurrent anemia: Hereditary hemorrhagic telangiectasia.
January 2015, Lung India : official organ of Indian Chest Society,
José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
Pazopanib for severe bleeding and transfusion-dependent anemia in hereditary hemorrhagic telangiectasia.
February 2022, Angiogenesis,
José Wellington Alves dos Santos, and Tiago Chagas Dalcin, and Kelly Ribeiro Neves, and Keli Cristina Mann, and Gustavo Luis Nunes Pretto, and Alessandra Naimaier Bertolazi
Hereditary hemorrhagic telangiectasia showing severe anemia which was successfully treated with estrogen.
June 1995, Internal medicine (Tokyo, Japan),
Copied contents to your clipboard!