Physician with an undiagnosed condition--please help.

[lmk22]

The ultimate irony: a physician who cannot figure out what is wrong with themselves.

For my entire life, I have been hypermobile/flexible. During puberty, I developed excessive and deep stretch marks (far beyond what is typical during adolescence). My skin is hyperextensible on my neck, dorsal hands, and breasts. I have always had heavy and extremely irregular periods. My blood pressure has always been low (80s-90s/60s typically). I also have suffered with fatigue for as long as I can remember. I have always had a tremor in my hands, but recently this seems to have improved. My gingiva (gums) began receding in my teen years, but they appear to have been stable (albeit, significantly receded) for the past couple years.

Over the last year, I have developed hyperpigmentation surrounding my axilla (arm-pits) and it almost appears as if there is dirt surrounding the area (though I know there is not). I also have developed a nagging pain surrounding most of my major joints and it seems as if my breasts have begun to sag despite the fact that I am only in my 20s.

I have ruled out thyroid dysfunction, anemia, and diabetes/related glucose issues.

In case it is relevant, my family history is significant for:

Parkinson's (paternal grandfather)

Temporal Arteritis (maternal grandmother)

Ulcerative Colitis (father)

Crohn's Disease (mother)

I feel a little bit crazy because the conglomeration of symptoms I am experiencing is so bizarre. I am embarrassed, exhausted, and don't know what else to do. When I have told professionals in the past, they have shrugged it off and told me I am over-reacting which only adds to these feelings. Any thoughts are sincerely appreciated. Thank you!

[KellyInTexas]

Are you in the USA?

If so I recommend seeing Dr Jill Schofield in Denver Colorado. Even if it’s not Ehlers Danlos, she will be able to help you sort with the mixed or undifferentiated aspects should they indeed fall under rheumatology or immunology. ( she picked up on my Ehlers Danlos.)

(My primary disease is Antiphospholipid syndrome. The others like ED, Sjögren’s, low thyroid tag along for the ride. )

If you are in the UK, Prof Elizabeth Price in Swindon might be a rheum to see. She’s very good with Sjögren’s syndrome. Therefore I would assume she might be more inclined to take a little extra time with ED also.

[lmk22 in reply to KellyInTexas]

Thank you! Based on my family history and my symptoms I think there is a good chance the disease is rheumatic/autoimmune in nature. I appreciate your response!

[cyberbarn]

You may want to look at the RCGP toolkit that was written by a GP with EDS. It is a good basis to go through the dx of EDS as well as some of the differential dx.

rcgp.org.uk/clinical-and-re...

[Kate37]

Hi

If you are based in the UK myself and my children had a very good experience at the London Hypermobility clinic which is a private set up but was well worth the cost.

I have a number of symptoms in common with you and have been diagnosed with Ehlers Danlos- hypermobile type and POTS. Getting the diagnosis helped explained many of the other symptoms I experience and how I now manage them.

I think as a doctor it can feel distressing as the the symptoms aren’t typical and aren’t obviously explainable using general medical knowledge but when you find a physician with a good knowledge base in this specialist area hopefully they will help you form a picture of what’s happening.

[KittenMam]

My daughter and I have Ehlers Danlos type 3. She has the dark under her armpits and was dx by a dermatologist with Fox Fordyce.