Dr. Clair Francomano led a main session entitled "What is new in EDS 2013."  She reviewed the recent publications, which I will list here (a better list will be in her PowerPoint presentation--I was only able to write the gist of the titles before the slide was changed.)  
--Dordoni: Recurring and generalized visceroptosis in EDSIII.  A study of prolapse in hypermobility cases.
--Mayo Clinic: POTS--a heterogeneous and multifactorial disorder
--Castori:  Mgmt of pain and fatigue in EDSIII.  A study of the causes of pain and fatigue.
--Propriception article:  Do people with BJHS and EDS have reduced proprioception.  Found that they do have decreased position sense in the lower extremities, however, the evidence was not as good for upper extremities.
--De Paepe: EDS-a disorder with many faces.  Review of genes and phenotypes.  Examples of clinical cases
--Italian group (Castori, Dordoni): Study of gait.  3D gait analysis of individuals with EDS (pelvis, ankle, distal joints).
--Castori: Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations
--Dermal ultrastructure in low Beighton Score members of 17 families with EDSIII.  Changes in collagen were found in the low Beighton score family members.  Called "non-hypermobile, hypermobile EDS."
De Paepe: Classic EDS type research regarding genes.  Discussion of how old type I should be "Classic" and old Type II and Type III together should be considered "Hypermobile."
Dr. Francomano also mentioned that the cost of DNA sequencing has been cut from $1 billion to $10,000 per genome.  NIH had 3 sequencing centers (Mendel project).  There is also a family foundation funding 50 exomes with DNA samples.  She spoke here about Dr. Schvink in Los Angeles and CSF leaks.  CSF leaks can manifest as a headache with a rapid leak of fluid from the ear or nose. 
Moving on to topics that she find interesting/concerning, Dr. Francomano began the next section of her speech by talking about neurological symptoms of EDS.  She spoke briefly about the cranial cervical junction and compression of nerves (as this was covered in depth by Dr. Henderson).  The cranial cervical junction can cause a number of problems in EDS patients, as it tends to become unstable over time.
She also mentions that many individuals with EDS have increased intercranial pressure, but she and other physicians are not certain why this is.  This condition causes increased pressure on the lumbar puncture, and is potentially caused by a number of secondary conditions, including chiari.  It is responsive to diamox therapy; however, bicarbonate levels must be monitored.
Further, she spoke on mast cell disease.  A subset of patients have EDS, but also have flushing, hives, and anaphylaxis.  However, many of these patients respond to therapy for mast cell activation disorder (including H1 and H2 blockers).
She mentioned that EDSers do not metabolize drugs as expected.  Those with EDS are slow to respond to -caine derivatives (lidocaine, etc.); although there are a few who will over-respond to these medications and the effects will last for much longer than expected. Make sure to tell your dentist that you have EDS and, if possible, take a handout from the EDNF site.  Additionally, the metabolism of other drugs in EDS patients tends to be accelerated or prolonged.
Finally, she spoke on inflammation.  Inflammation has been found to be a component of osteoarthritis, even though most think of osteoarthritis as "bone on bone."  It is also a part of mast cell disease, and it increases with higher insulin levels.  

Sean Craig
2/26/2014 06:54:15 am

THanks so much for posting this--helpful info for sure. I will use it to investigate further to try and help my daughter Ciara (age 14) who has very recently been diagnosed with EDS type III (hypermobility)

6/10/2014 06:52:02 pm

Thanks for the notes! I just saw Dr. Francomano for the second time. The first time I was diagnosed with a genetic connective tissue disorder (probably EDS) and this time with a mast cell activation disorder. She's a great doctor!


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    Amie K.

    EDS warrior.  Find me on Twitter and Inspire as LilacZebra.  Questions, comments, and/or suggestions?  Email me


    August 2013