*Rare, inherited condition
*Caused by a genetic mutation
*Results in malformation of the blood vessels, or telangiectases
*Most prevalent presentation is telangiectases of the nose, and an increased occurrence of nose bleeds
Hemorrhagic telangiectasia is a rare, inherited condition in which the blood vessels are malformed, causing them to rupture and bleed easily. This skin finding of dilated blood vessels are known as telangiectasias. It most commonly consists of telangiectases occurring in the nose and a marked increase in the occurrence of nose bleeds. Telangiectasia appears as small purplish or red spots, or lacy lines which are dark red in color. Telangiectasia may form anywhere, though is most common on the upper half of the body, in areas such as the face, mouth, nostrils, lips, eyes, forarms, hands ears, and fingers. While symptoms may be not be as noticeable at first, as the condition progresses cutaneous symptoms will become more pronounced. In addition to the cutaneous presentation, hemorrhagic telangiectasia may also cause vessel malformations in other body organs, including anywhere in the gastrointestinal system. These malformation result in bleeding from the GI in approximately 25% of affected persons. This risk increases with age. The lungs, brain, and spinal cord may also be affected in some persons.
Hemorrhagic Telangiectasia is very rare, and is caused by an inherited genetic mutation. It usually does not appear until puberty or after, while symptoms outside those affecting the nose will not present until after puberty. These later symptoms typically appear between 20 and 40 years of age. In spite of its inherited nature, the condition may present differently in affected persons even in the same family. Any children of the affected person will have a 50% chance of developing the condition.
Differential Diagnosis (Other conditions with similar appearance)
Actinically damaged skin
*Diagnosis based on symptoms in conjunction with family history
*Other tests will be performed to confirm the diagnosis, as well as rule out other conditions
*In persons where internal organs are suspected to be affected, further testing may be necessary
Diagnosis of hemorrhagic telangiectasia is based on the presentation of common symptoms (recurrent nose bleeds, telangiectases on the skin/mucous membranes) in conjunction with family history of the condition. Testing will be performed to confirm the diagnosis, as well as to rule out other conditions.
*There is no cure for the condition
*Goal of treatment is to control symptoms and prevent other health problems from occuring
*The condition is graded by severity, mild, moderate, and severe
*While mild cases generally do not require treatment, moderate cases which cause issue and severe cases should be treated by health care professionals
Hemorrhagic Telangiectasia is not curable, but its symptoms can be treated. Graded by severity (mild, moderate, severe), persons with mild cases do not generally require treatment. However in moderate cases where symptoms cause significant issue and in severe cases in which internal organs may be affected, treatment by health care professionals is recommended.
Nose bleeds may be treated with laser coagulation therapies or septal dermoplasty (skin grafts inside the nose). Telangiectases are often treated with dye laser surgery or cautery. In persons who experience anemia due to GI bleeding, iron replacement or even blood transfusion and endoscopic therapies may be useful.