Explain this disorder- the technical parts in simple English.

First, here’s the basics about this disorder: 

Hereditary Hemmoragic Telangiectasia  is an autosomal, dominant genetic disorder, that leads to abnormal blood vessel formations in the skin, mucous membranes, lungs, liver and the brain.  If you inherit the abnormal gene from only one parent, you have a 50/50 chance of inheriting it.  There are cases where children of people with HHT do not inherit this disorder.  (In my family, not only do I have it, but so do my brother, mother, her brother, their mother, and so on…)  As far as we know, this disease doesn’t skip generations.  You either have the disease, or you don’t. (A. Victor)

According the CUREHHT.org International, 1 in 5000 people have the disorder, but it isn’t well known, so it is often misdiagnosed, or underdiagnosed.  

Clinical symptoms of disorder are different between families, but also different between different people in the same family! Each person with HHT may have a different expression of severity. 

So many people don’t know they have this disease! HHT is a devilish monster, if it's not been discovered. Right now, the average age of people finding out this isn’t just a nosebleed, but a genetic disorder, is 27.9 years old!  There are cases of people in the USA who didn’t know they had a disease until they were 60 years old!  They only knew when they had an emergent situation. 

I found out when I had a stroke at age 20.  I did have nosebleeds before then, and some chest soreness, but that was attributed to growing pains. (A. Victor)

Genetic testing should be done at birth. I think that in a way HHT is a devilish monster, if it's not been discovered. I think that in a way you have been winning in a lottery if there's three people having HHT, in the same family, and all of them are living. 

The average worldwide prevalence is estimated to be 1:5,000-8,000 persons. Due to the founder effect there are isolated populations where this index is higher, for example, Jura in France, Funen in Denmark, and the Netherlands Antilles. HHT has significant morbidity and mortality associated and has no definitive cure. * https://www.omicsonline.org/open-access/epidemiology-of-hereditary-haemorrhagic-telangiectasia-hht-in-spain-2161-1041-1000173.pdf

 

HHT can be difficult to diagnose because it isn’t well mentioned in medical schools.  The purpose of this blog is to spread awareness of this problem, and share how patients from around the world are handling their experience of HHT.  We will also include some of the latest science coming from Spain, France, the USA and Asia.  (CUREHHT.org International/A.Victor)

COMMON EXPRESSIONS OF HHT

Telangiectasias

 

See these red dots on the lips and tongue?  These are Tongue telangiectases as seen in a person with hereditary hemorrhagic telangiectasia

Telangiectasia (small vascular malformations) may occur in the skin and mucosal linings of the nose and gastrointestinal tract. 

 

The most common problem having HHT is nosebleeds (the medical term is Epistaxis). For some, it can be so severe, they need to go to a hospital emergency room to get a transfusion. For others, they may have a much smaller bleed lasting only a few minutes. As the person with HHT ages, the nosebleeds become more frequent. They usually begin during childhood and affect about 90–95% of people with HHT. The blood usually flows out of the nostrils, (one nostril at a time, but sometimes can affect both). In HHT patients, the blood can also go down the throat.  Fresh blood and clotted blood can also flow down into the stomach and cause nausea and vomiting in severe bleeding. 

Lesions on the skin and in the mouth bleed less often but may be considered cosmetically displeasing; they affect about 80%. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun-exposed areas. They appear suddenly, with the number increasing over time.