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H. POTS and Mast Cell Actiation (Read 13590 times)
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Re: H. POTS and Mast Cell Actiation
Reply #30 - 09/13/16 at 09:24:30
 
I was told the first link above doesn't work sometimes.  Checked and this one doesn't work either. Just go to the Blog.  Under the second paragraph is a link to the list of Disorders that mimic MCD. POTS is among them.

Paper is behind a paywall here at this link...

http://www.nejm.org/doi/full/10.1056/NEJMra1409760?rss=searchAndBrowse
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Re: H. POTS and Mast Cell Actiation
Reply #31 - 10/15/16 at 19:52:24
 
"We describe associated conditions, such as Hymenoptera Reactions, Familial Tryptasemia, Postural Orthostatic Tachycardia Syndrome and Ehlers-Danlos Syndrome."

Mast Cell Activation Syndromes

Rafael Bonamichi-Santos and Mariana Castells

https://link.springer.com/article/10.1007/s40521-016-0100-6
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Re: H. POTS and Mast Cell Actiation
Reply #32 - 10/18/16 at 19:48:28
 
Identifies a group, nothing about causation.

http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3696.html
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Re: H. POTS and Mast Cell Actiation
Reply #33 - 10/26/16 at 09:12:54
 
"Results

Comprehensive pedigree analysis of 16 families (39 individuals with orthostatic intolerance, and 40 individuals suspected of having orthostatic intolerance), demonstrated dominant transmission of autonomic dysfunction with incomplete penetrance. Affected individuals were predominantly female (71.8%, 28/39; F:M::2.5:1). Male-to-male transmission, though less common, was observed and demonstrated to transmit through unaffected males with an affected parent. Similar to sporadic orthostatic intolerance, probands report a range of symptoms across multiple organ systems, with headaches and neuromuscular features being most common.
Conclusions

Familial occurrence and vertical transmission of autonomic dysfunction in 16 families suggests a novel genetic syndrome with dominant transmission, incomplete penetrance, and skewing of the sex ratio. Elucidation of potential genetic contributions to orthostatic intolerance may inform therapeutic management and identification of individuals at risk. Adolescent evaluation should include identification and treatment of potential at-risk relatives."

http://www.pedneur.com/article/S0887-8994(16)30419-2/abstract
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