btw, images

Oh, I stumbled across a site with some interesting x-ray & cat-scan images of organs with the Hereditary hemorrhagic telangiectasia defect.

One day I'll have to come back & look at them in more detail & see if I can cross-match to any of my past (or future!) x-rays.


http://www.ajronline.org/cgi/content/full/183/2/307

Saturday was a rough day

.. but Sunday was better

Saturday did not start well for me - went to bed bleeding; woke up first thing bleeding; about 10:30 bleeding about 2:30 bleeding... a very exhausting day.

i had a good sleep Saturday night - felt completely rested when I woke up.

Got onto the iron tonic so feeling quite energised today!

Had a good time at Church. Has been a bit sad lately with a few things happening there.

Dropped a friend home & visited with a few people in the afternoon.

That was great. Dropped in on a friend's almost completed house! Looking good..

HHT - Basic Article

This article seems easy to understand...

http://ghr.nlm.nih.gov/condition=hereditaryhemorrhagictelangiectasia

What is hereditary hemorrhagic telangiectasia?

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's tissues. By the time blood reaches the capillaries, the pressure is much lower. The blood then proceeds from the capillaries 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 vessels near the surface of the skin, where they are visible as red markings, 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 episodes of severe bleeding (hemorrhage). Nosebleeds are very common in people with hereditary hemorrhagic telangiectasia, and more serious problems may arise from hemorrhages in the brain, liver, lungs, or other organs.

HHT in Wikipedia

I found even Wikipedia has some articles on it.

see wikipedia (http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia)

This one talks a bit about the genetics of it, and goes through the autosomal dominant part of the genetics.

I wonder if this makes sense to anyone:

• Autosomal dominant gene

• An autosomal dominant gene is one that occurs on an autosomal (non-sex determining) chromosome. As it is dominant, the phenotype it gives will be expressed even if the gene is heterozygous. This contrasts with recessivehomozygous to be expressed.

• The chances of an autosomal dominant disorder being inherited are 50% if one parent is heterozygous for the mutant gene and the other is homozygous for the normal, or 'wild-type', gene. This is because the offspring will always inherit a normal gene from the parent carrying the wild-type genes, and will have a 50% chance of inheriting the mutant gene from the other parent. If the mutant gene is inherited, the offspring will be heterozygous for the mutant gene, and will suffer from the disorder. If the parent with the disorder is homozygous for the gene, the offspring produced from mating with an unaffected parent will always have the disorder. See Mendelian inheritance.
• The term vertical transmission refers to the concept that autosomal dominant disorders are inherited through generations. This is obvious when you examine the pedigree chart of a family for a particular trait. Because males and females are equally affected, they are equally likely to have affected children.
• Although the mutated gene should be present in successive generations in which there are more than one or two offspring, it may appear that a generation is skipped if there is reduced penetrance.

• Autosomal Dominant Pedigree Chart

! I never knew I could paste graphics into a blog - see you learn something new every day!!!

This is an interesting chart from wikipedia - it shows anyone with the "half" a gene has it.




It is also very interesting that they are only just starting to identify the chromosomes that it affects - Four forms have been described.

The wikipedia article in interesting - it quotes a different rate of occurance:-

• Epidemiology

• HHT occurs mainly in whites (1:5,000), more in certain areas of France, but much less in blacks (1 in 1 million). It is found in all continents throughout the world. It is also seen with increased frequency in Mormon families from Utah.

Interesting.........

HHT Complex article

I found a complicated article at http://www.emedicine.com/derm/topic782.htm on the net. Some bits in the article are interesting.

• HHT is a disorder that is inherited in an autosomal dominant fashion, although 20% of patients are unaware of a positive family history, partly because the lesions may be minimal and because 10% of patients have no episodes of bleeding. The homozygous condition probably is fatal. Histopathologic studies reveal large, irregular, thinly walled blood vessels, but the pathogenesis has not been fully established. One current theory states that systemic nevus vascular damage may not be equally expressed in all individuals with HHT. Individuals with blood group type O are affected more often, whereas males and females are affected equally. Coagulation abnormalities and increased fibrinolytic activity in the lesions may contribute to the tendency for bleeding.

I still have to work out what autosomal dominant is - but I think that it means roughly it's more than likely to carry through in the genes

It is really interesting - I recently had my blood group confirmed - just for interest - and its O+

• United States

  HHT is rare. Prevalence is 1-2 cases per 100,000 population.

Ok, so I'm not 1 in a million - but 1:100,000 is "special" !!


I read somewhere a while ago that this condition is more prevalent in Scandinavian (viking) heritage. Does that mean I have some viking in my family history?!

• International

  The onsets, courses of illness, and sex distributions are the same worldwide. The condition is much more common on the Danish island of Fyn, in the Dutch Antilles, and in parts of France.

I wonder what is "special" about these ethnic groups?

Update 18/6/08

I have continued to have "big" bleeds at night, and a couple of small ones during the day.

this evening, feeling heaps better as I started on the iron tonic yesterday.

I find that really helpful when I've ha a lot of bleeding.

The thing I detest most was what happened last night - a largish 20 minute bleed every 2 hours or so... while I am asleep. I really dislike (in the most strongest sense of the word!) being woken up choking & bleeding. 2am, 4am & 5.30am. Never really got a good stint of sleep.

I think it is full moon at the moment - or near enough to it. Wonder if that has anything to do with it!!!!!!!

Who knows.

Update 16/6

Feeling very tired today.

Got my last few blood tests back. The thyroid function is back to normal (for now).

My blood count is good - but the iron levels are 1/3rd below minimum.

Have to get back onto the iron supplements to try to build up from the blood I lost last week. It's interesting how the body works. My doctor said I did into the iron stores first, then into the red cells second ... which then causes anemia. So I'm just a fraction away from that.

My BP is down from last weeks record (now 150/90) but that's still too high. The bleeding has been less - not so long now, which is good. Much happier with that, but still annoying when it happens.

I go into the city on 9/7 to see another ENT specialist.