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Do I have an autoimmune disorder or maybe connective tissue disorder?

Hi
I've had several blood tests done over the last year due to unknown fatigue and general feeling of being unwell.
* In the last 6 months the ANA Homogeneous pattern has gone up from 1:80 to 1:160. The Nucleolar pattern has stayed the same on 1:320.
* ds-DNA Anitbodies are negative
* Iron, Ferritin, Transferritin, Iron Saturation has been steadily declining. I had an iron infusion about 9 months ago which lifted the levels, but they have come down again to just barely inside the "normal" levels
* CBC Tests are generally normal if tethering on the higher scale of normal levels except for the ESR that is elevated at 35mm/h (0-15mm/h normal)
* Rheumatoid Serology = Rheumatoid factor: <20 IU/ml (0-25 normal), CRP: 20mg/L  high (0-8 normal)
* Vitamin B12 and Folate at the very bottom of normal range
* HbA1c = 40 mmol/mol (?diabetes)
* Mid-Stream Urine tests - Over the last 12 months there has been very high levels of red and white cells (80-100+) with no bacteria or casts detected
* I have joint pains, mostly in my hands, shoulders, hips and knees, sometimes severe with swelling and redness, other days nothing at all
* I get VERY tired and often just feel very unwell
* I am prone to depression
* An ultrasound of my abdomen and renal system revealed my liver contains 2 cysts. There is mild fatty infiltration of the liver with some focal fatty sparing anterior to the porta, otherwise it appears normal. Kidneys and gallbladder normal (I use very little alcohol, maybe one glass of wine every few months)
* I've seen a rheumatologist, he suggested I alter my gym exercises to low impact exercises to help with joint pain but couldn't make a definite diagnosis
* I also have joint hyper-mobility, fragile skin that bruises easily (bruising may be severe); severe scarring; slow and poor wound healing.
Any information would be much appreciated!
Thanks!
1 Responses
1756321 tn?1547098925
I have autoimmune pernicious anaemia (unable to absorb vitamin B12 through the gut). Symptoms occur in the "normal" range. The B12 reference range is far too low in most countries.  In Japan, a deficiency is found in levels under 550 pg/ml (400pmol/L). When I corrected my B12 my folate increased as well. Besides autoimmune pernicious anaemia I also have Hashimoto's thyroiditis, alopecia areata, vitiligo and joint hypermobility syndrome.

I looked for possible related autoimmune diseases to hypermobility syndrome and found a study "Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases".

From this study...

"We found that several structural deformities or deficiencies (i.e. club foot, hereditary angioedema, primary hypogammaglobulemia), non-inflammatory diseases (fibromyalgia, erythromelaglia), and autoimmune/inflammatory diseases (psoriasis, PsA, AS, RA, inflammatory eye disease, autoimmune thyroiditis, SLE, Crohn’s disease, pernicious anemia, and TRAPS) were significantly more prevalent in the CWU HEDS population than in the general population of the US."

To explain the abbreviations:
CWS HEDS - comprehensive work up Ehlers-Danlos Syndrome hypermobility type
PsA - Psoriatic Arthritis
AS - Ankylosing spondylitis
RA - Rheumatoid Arthritis
SLE - Systemic lupus erythematosus
TRAPS - Tumor Necrosis Factor Receptor Associated Periodic Syndrome

***

A fatty liver is most commonly due to alcohol or sugar. Dr Lustig has a YouTube video "Sugar The Bitter Truth" that goes into biochemical detail of how sugar and alcohol causes a fatty liver. Prediabetes is 41 to 49 mmol/mol. In some cases a fatty liver can be due to malnutrition, congenital metabolic disorders and excessive use of or toxicity of prescribed medications and pain killers.

***

Excerpt from B12 awareness...

Causes of vitamin B12 deficiency:

Low stomach acid
Atrophic gastritis
Autoimmune pernicious anemia
Helicobacter pylori
Gastrectomy, intestinal resection
Gastric bypass surgery
Malabsorption syndromes
Crohn’s disease
Celiac disease (gluten enteropathy)
Chronic pancreatitis
Bacterial overgrowth (small bowel)
Fish tapeworm
Alcoholism
Malnutrition—Eating disorders
Vegetarianism
Advanced liver disease
Transcobalamin II deficiency
Inborn errors of B12 metabolism
Certain drugs
Nitrous oxide"

***

Excerpt from RACGP..ANA...

ANA pattern - Associated rheumatic disease..

Homogeneous:
Systemic lupus erythematosus
Mixed connective tissue disease
Drug induced lupus
Juvenile idiopathic arthritis

Nucleolar:
Diffuse systemic sclerosis/scleroderma
Polymyositis"
2 Comments
Thanks Redstar. This is more info I've ever gotten from the doctors!!
Glad to help. :)
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