obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Revise structure near to peripheral artery disease. #2345

Closed pnrobinson closed 7 years ago

pnrobinson commented 7 years ago

new term for Stanford cardiovascular workshop

Peripheral arterial stenosis has child terms that are not correct needs revision. Peripheral arterial disease should not be a child of Peripheral arterial stenosis because arterial disease of legs is not a type of stenosis.

pnrobinson commented 7 years ago

Here (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726566/) Peripheral arterial disease (PAD) is defined as an ankle-brachial index of less than 0.9. The clinical manifestation is claudication (pain in the leg upon walking etc) caused by insufficient blood supply. This is a manifestation of atherosclerosis with partial peripheral arterial occlusion.

Premature peripheral arterial disease (PAD) is the onset of peripheral arterial occlusion before the age of 50 years.

ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), sometimes called the ankle-arm index or ankle-brachial pressure index, has perhaps shown the most promise as a potential tool in clinical practice and has been most widely investigated.

pnrobinson commented 7 years ago

The HPO term "Premature occlusive vascular disease" is used to annotate a single disease in our corpus, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED http://omim.org/entry/177850

In this disease, one sees An increased carotid intima media thickness (IMT) The larger IMT seems to result from the higher amount of proteoglycans without proliferative change in the vascular smooth muscle cells (VSMC). Proliferation of the VSMC toward the lumen leads to arterial stenosis and occlusion, and is observed in response to an abnormal mechano-transductive signaling in elastin deficiency diseases, such as Williams–Beuren syndrome (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569880/)

pnrobinson commented 7 years ago

Therefore, although the mechanisms are different in pdeudoxanthoma elasticum and atherosclerosis, the defining characteristic is occlusion/stenosis of peripheral arteries. I think that essentially all of the terms under "Peripheral arterial disease" are (nearly) synonymous. We will present this as a question to the cardiology team and revise this subhierarchy after discussions.

pnrobinson commented 7 years ago

This is the question for the cardiology group:

The HPO currently has a number of terms here, but after review, they seem to be all saying about the same thing. This is the current structure Peripheral arterial disease --Arterial disease of legs --Peripheral arterial stenosis --Peripheral artery occlusive disease ----Premature occlusive vascular disease

There are different mechanisms for the occlusion. For instance plaque in atherosclerosis and increased intima media thickness (IMT) in pseudoxanthoma elasticum. Some of these items may be additional HPO terms, but this term should express the occlusion. I would therefore suggest that Peripheral arterial stenosis be the preferred label. I would suggest that we merge all of the other terms except “Premature occlusive vascular disease” (which I would rename to “Premature peripheral arterial stenosis”)

I would use the following definitions Peripheral arterial stenosis -- Definition: Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. Comment: The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. Synonyms: Arterial disease of legs (RELATED); Peripheral arterial disease (EXACT), Peripheral artery occlusive disease (EXACT)

Premature peripheral arterial stenosis Definition: Peripheral arterial stenosis with onset before the age of 50 years.

pnrobinson commented 7 years ago

I have implemented this refactoring.