Please help - Symptoms point to Lupus/Addison's disease, but negative bloodwork

[naonoon]

Age: 29
Gender: Female
Ethnicity: South East Asian
Height: 158cm / 5’2”
Weight: 52kg / 115 lbs
Smoking: No
Drinking: No
Medication: Yasmin (Drospirenone 3mg, Ethyinylestradiol 0.03mg) for PCOS, Oratane (Isotretinoin 10mg) for cystic acne, antihistamine for allergic reactions
Symptoms:
1. Fatigue
2. Hair loss
3. Joint pain especially in knees
4. Frequent headaches and lightheadedness
5. Recurrent fevers (7-8 times a year)
6. Recurrent diarrhea (once a week)
7. Recurrent swollen eye (7-8 times a year)
8. Recurrent UTIs (4-5 times a year)
9. Recurrent cold sores (4-5 times a year)
10. Recurrent angular cheilitis (4-5 times a year)
11. Easy bruising
12. Recurrent malar rash (7-8 times a month)
13. Eczema
14. Excessive sweating
15. Body constantly feels hot to the touch
16. Recurrent swollen lymph node at groin (once a month)
17. Petechiae


Other issues:
1. Hypermobility since early childhood
2. Keratosis pilaris
3. Flat feet
4. Retroveted uterus
5. Mild scoliosis (10 degrees)
6. Osteoarthritis
7. Varicose vein

Medical History:
• 2003: Tonsillectomy surgery
• 2008: Maxillofacial surgery to correct class III malocclusion
• 2010: Polycystic ovary syndrome (PCOS)
• 2014: Helicobacter pylori infection
• 2015: 2 fibroadenomas in right breast
• 2016: Balloon sinuplasty and laparoscopic Nissen fundoplication (hiatal hernia, GERD)
• 2017: SLAP type III repair surgery (left shoulder)

Family history:
1. Father: Diabetes
2. Mother: Meniere’s disease
3. Paternal uncle: Motor neuron disease (MND)
4. Paternal aunt: Breast cancer


I hope that someone here can help me. I’m a married 29 year old female with no kids. So I have been experience extreme fatigue for over 2 years. It has been so exhausting that I am unable to work a 9-5 job and it is difficult for me to function normally. There are many days that I can’t even get out of bed. Exercise only makes it worse (I used to be physically active during college but had little time to exercise when I started working in end of 2014-March 2016).

I’ve also been experiencing hair loss especially around the temples and joint pain. The pain around my knees has been a constant dull pain but from time to time there’ll be a sharp pain. I had a SLAP type III tear in my left shoulder in early 2017 but that has since been repaired surgically. I do not know what was the cause of the tear since I have not been physically active for years. However the shoulder pain has resurfaced again these past few days. Besides that my whole body aches and I always get bruises.

I am always sick. I get fevers 7-8 times a year as well as recurrent swollen eyes, UTIs, cold sores and angular cheilitis. It also takes a long time for me to recover. For instance, in April I had a fever, throat infection and flu that took 2 months and 3 courses of antibiotics/medication to go away. I also get diarrhea about once a week for no reason. I’ve always had digestive/gastro issues since I was a kid and after throwing up on an almost daily basis, they discovered that I had hiatal hernia and GERD in 2016.

I also get random rashes on my body as well as a malar rash on my face. Besides that I have tiny red spots on my body from time to time that my GP said it’s petechiae.

I have went to several endocrinologists who tested my hormone levels, thyroid functions including Synachthen and 17-OHP tests, 24 hour urine protein test, ESR, CRP, B12 (which I do not have a copy at the moment) but everything came out fine except my vitamin D levels which was low and caused my PTH to increase slightly. I have been taking vitamin D3 since and my levels are back to normal. Besides that I have tested for lupus and autoimmune diseases and everything came out negative as well including ANA.

I have been Googling a lot and one of the things that popped up is Ehlers-Danlos Syndrome. Some things do fit like the hypermobility, joint pain, fatigue, easy bruising. I tried the Beighton score and I scored 7/9. I also have a positive Walker sign and Steinberg sign.

However I do not think I will pass the 2017 hEDS diagnosis criteria since I only have a few of Feature A of Criterion 2, and most importantly, I do not have stretchy skin. Besides that, I don’t think EDS would explain the recurrent fevers and infections as well as hair loss. Regardless, I have made an appointment with a clinical genetics specialist and he is only available in two month’s time. I’ve also written down other medical issues that I have that seem related to EDS like flat feet.

Please help me, I’m at my wit’s end. I have attached photos, my blood test results and medical history in case it’ll be useful. Is there anything else I should look into? What could it possibly be? What else can I get tested for?

Blood test:  https://imgur.com/a/oo67GiF
Reports:  https://imgur.com/a/2hghX4X
Symptoms: https://imgur.com/a/6KtDcvl

Thank you.

[NicaSaje]

Hi. I have dealt with a lot of these symptoms. Almost all of them. Same age too. It turned out I'm celiac, but abstaining from gluten only helped some of my symptoms, it didn't fully remove any. My mother also has a rare gene condition. I haven't been screened for it yet. My email is ***@****. Please contact me if you have or need any ideas. Good luck!