Rheumatologist Questions Doctor

Years of pain and symptoms unanswered?

Hello, I have a big family history of autoimmune and thyroid disease. This list includes lupus (grandma and mother), Hashimoto's (aunt and mother), scleroderma (sister), nmo/devics/neuromyelitis optica (mother), rhenauds (mother, sister, myself), and more that I cannot remember. I have factor 5 leiden, MTHFR C677T COMT (recently discovered), occipital neuralgia, a positive ANA diagnosis, arthritis, fibromyalgia. In the last couple of years, I have had extreme fatigue, chest palpitations, heavy legs, 30lbs weight gain despite barely eating, pain and fatigue in all joints, telogen effluvium hair loss since last may (2020), skin is very thin dry, and stretchy (it has always been very unusually stretchy), my eyesight has significantly worsened, I am always cold. I also have PTSD and major depression. Thyroid levels come back normal, all panels come back basically normal except cholesterol a little elevated, hormones basically normal. I cannot move, I have been sitting for 3 years because I get out of breath and am in pain. Any ideas of what it could be? I see dr after dr, they tell me to see a shrink its prob stress, seen the shrink, they have no answers and are not willing to test outside basic panels. I feel like I'm dying and every day I secretly just wish it would happen. Most of my pain is in my legs, they are heavy and not proportionate to my body. They just send me to pain management for lidocaine infusions without trying to find a cause. Thank you for your time!

Female | 34 years old
Complaint duration: 5 years
Medications: Amitriptyline, trintellix
Conditions: Occipital neuralgia, fibromyalgia, factor 5, MTHFR COMT, arthritis

2 Answers

I am sorry that you feel so poorly
I assume that you have seen your family doctor and a Rheumatologist and maybe Neurology

The tests you had likely did not give them a clear answer

Referral to Pain Management, physical therapy, Aquatherapy are all reasonable

You have a complicated case and I always tell my patients to be open to a second opinion

I wish you the best!
Dear patient,

Sounds really tough. The leg swelling and shortness of breath may indicate cardiac disease and you may be helped by a diuretic. Follow up with cardiologist, the arthritic complaints may be helped with rheumatologist consult. That is how I would suggest starting. The thyroid disease does not seem a problem now.
Good luck!

Respectfully,

Marvin A. Leder, MD FACP FACE