Who discovered hereditary hemorrhagic Telangiectasia (HHT). It is a genetic disease. Also how did they?

Question

Also if possible what is the history of HHT. Any facts about HHT's history is appreciated

Answer 1

It sounds like you are more interested in the history of the disease than the facts about the disease process. HHT used to be called Osler-Weber-Rendu, named after three different physicians who each played an important role in our current understanding of the disease.

- Earliest descriptions of the disease: The disorder was first described by Dr. Henry Gawen Sutton in 1864; in 1865, Dr. Benjamin Guy Babington published a description of epistaxis (nosebleeds) in five generations of one family, and Dr. John Wickham Legg described the disease in 1876.

- DR. RENDU: The condition was first differentiated from hemophilia by Dr. Henri Jules Louis Marie Rendu in 1896, who published a report of a 52-year-old man with recurrent epistaxis. He noted telangiectases on the man's face and trunk and on his lips, tongue, and soft palate and speculated that his epistaxis resulted from lesions in the nose. Dr. Rendu noted that the patient's mother and brother had also had copious epistaxis.

- DR. OSLER: Dr. William Osler's description in 1901, in which he credited Dr. Rendu's report, established the condition as an inherited disorder: "In the three cases here described, two belonged to a family in which epistaxis had occurred in seven members. Both of my patients had had bleeding at the nose from childhood, and both presented numerous punctiform angiomata on the skin of the face and of the mucous membrane of the nose, lips, cheeks and tongue. The third patient had suffered in an unusual degree from recurring epistaxis, and the telangiectases were most abundant over the body, and very numerous also on the mucous membranes. The condition has nothing to do with haemophilia, with which the cases had been confounded." In the autopsy of a man who died of gastric cancer, Dr. Osler noted that the viscera could be affected: "In the stomach there were a dozen round foci, each 3 to 4 mm in size, which at first looked like ecchymoses but were dilated venules and capillaries."

- DR. WEBER: Dr. Frederick Parkes Weber followed in 1907 with a clinical description in a report of a series of cases. He invited Dr. Osler to see his patient. Dr. Weber wrote: "On the fingers, and notably under the fingernails, there are several minute (pin-point) red angiomata, which I had not observed until Professor W Osler, when he recently saw the patient, kindly drew my attention to them".

- HHT or Osler-Weber-Rendu: In 1909, Hanes coined the term "hereditary hemorrhagic telangiectasia", but the triple eponym Osler-Weber-Rendu survived and has gained universal acceptance. More recently, however, there has been a shift back to the term hereditary hemorrhagic telangiectasia or HHT.

Hope that's helpful!

Answer 2

Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.

In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through the arteries to the smaller vessels (arterioles and capillaries) that supply oxygen to the body tissues. By the time blood reaches the capillaries, the pressure is much lower. The blood then proceeds from the capillary beds into veins, through which it eventually returns to the heart.

In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly into veins rather than into the capillaries. These abnormalities are called arteriovenous malformations. When they occur in superficial vessels, where they are visible as red markings on the skin, they are known as telangiectases (the singular is telangiectasia).

Without the normal buffer of the capillaries, the blood moves from the arteries at high pressure into the thinner walled, less elastic veins. The extra pressure tends to strain and enlarge these blood vessels, and may result in compression or irritation of adjacent tissues and frequent hemorrhages (episodes of severe bleeding). Nosebleeds are very common in people with hereditary hemorrhagic telangiectasia, and more serious problems may arise from hemorrhages in the brain, liver, lung, or other organs.

Forms of hereditary hemorrhagic telangiectasia include type 1, type 2 and type 3 hereditary hemorrhagic telangiectasia, and juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. People with type 1 tend to develop symptoms earlier than those with type 2, and are more likely to have lung involvement. Individuals with either form, however, can have severe lung involvement. Type 3 is a rarer form that may be associated with a higher incidence of malformed vessels in the liver. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract. There appears to be no increased likelihood of such polyps in types 1, 2 and 3.

Answer 3

my dad has hht. he has it in his nose area. i don't really know that much about it jst that he bleeds so much sometimes that it is like scary. he went to a convention they had at yale a couple of weeks ago and i think he might be getting the same thing as you. hht sucks. good luck with everything. my grandfather actually died partially from it cause he bleed so much one day that they transfused contaminated blood and it attack his liver. i'm so nervous cause i'm getting tested soon. good luck :)