Can Scleroderma be diagnosed through blood test?

[dacharya]

I want to know whether Scleroderma is diagnosed through blood tests like Scl70, ANA and ACA or any other tests?

Can someone still have Scleroderma if both the blood test and skin biopsy reports are also normal?

[Midgebite21]

I was told by my rheumatologist that blood tests alone DO NOT lead to diagnosis. You need to have active symptoms. It is possible for people to have certain immunological antibodies but not be symptomatic. As there is no cure for autoimmune disorders such as scleroderma they will not diagnose and initiate treatment unless the patient is actively experiencing symptoms.

[dacharya in reply to Midgebite21]

So, how was your Scleroderma diagnosed?

[Midgebite21 in reply to dacharya]

Because I have relevant high level scleroderma antibodies and symptoms that positively suggest scleroderma.

Raynauds is very common in the general population but mine is excessive and I get ulcers , GERD is very common in the general population but I can’t swallow properly and my transit time is slow, COPD isn’t common in scleroderma but pulmonary hypertension is (different things). My cuticles are abnormal which is a strong sign and my mouth doesn’t open properly. My face/ body are covered in telangiectasia and my skin/ connective tissues are fibrotic!

[DizzyLiz57]

For some people it can but for many of us it is more done by looking at our symptoms. Make sure you tell those you're seeing all your symptoms - even those that don't seem relevant to you Xx sruk.co.uk/scleroderma/scle...

[dacharya in reply to DizzyLiz57]

I heard that there are two types of Scleroderma---diffused and CREST. I am not getting all the symptoms of CREST but only RES. So, can it be Scleroderma with only 3 symptoms?

[OldTed60]

No it can’t is the short answer. But without ANA and positive scleroderma antibodies it’s very unlikely (but not impossible) to have systemic sclerosis. So it’s usually diagnosed on strength of signs (Raynauds, immunology bloods, puffy hands, little red spots, tight shiny skin, reflux etc) and symptoms (GI problems, high BP, feeling the cold, itching, fatigue etc). It took me 12 years and several misdiagnoses to get a definitive diagnosis last year. Specific changes in my nailfold capillaries were the key criteria I had to meet because I already had the rest, including a rare SSc antibody.

[dacharya in reply to OldTed60]

My blood tests like ANA, ACA, and Scl70 are normal but not done the skin biopsy. I am not getting all the symptoms of CREST but only RES. So, can it be Scleroderma with only 3 symptoms?

I have hard/tight skin on my legs and skin, and damaged lungs. So, can't it be Scleroderma?

[OldTed60 in reply to dacharya]

Here are the new UK diagnosis and treatment guidelines:

academic.oup.com/rheumatolo...

[OldTed60 in reply to dacharya]

COPD isn’t same as Scleroderma lung involvement. Hard tight skin would normally start in finger tips, backs of hands and face. From a quick google here are the ACR diagnostic criteria - same as the EULAR ones. Systemic sclerosis wouldn’t usually be diagnosed by skin biopsy but other conditions might:

“The American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) classification criteria for systemic sclerosis (SSc) include:

Skin thickening: Thickening of the skin of the fingers that extends beyond the metacarpophalangeal joints

Fingertip lesions: Ulcers or pitting scars on the fingertips

Telangiectasia: Round, well-demarcated dilated blood vessels that are visible on the hands, lips, and inside of the mouth

Abnormal nail-fold capillaries: Enlarged capillaries or capillary loss at the nailfold

Pulmonary arterial hypertension or interstitial lung disease: Lung diseases associated with SSc

Raynaud phenomenon: A phenomenon that causes a color change in the fingers

SSc-related autoantibodies: Autoantibodies such as anti-centromere, anti-Scl-70, or anti-RNA polymerase III

A patient is considered to have definite SSc if they score 9 or higher on the criteria. The criteria should not be used if there is another explanation for the patient's symptoms, or if there is skin fibrosis without finger involvement.

Another important blood test for screening for SSc is the antinuclear antibody (ANA) assay”

[dacharya in reply to OldTed60]

Thanks for explaining everything. My COPD is not certain either because I got too many different opinions from many pulmonologists. Some say I have emphysema, some say it's asthma, and some say it's COPD. But the main thing is that my lungs is damaged and got enlarged. Doctors even prescribed inhalers but I never had to use them ever because I don't get too much difficulty in breathing.

The skin of my legs (up to the fingers) gets hard, skin of hands are less hard from my wrist to the shoulders, but I have hard skin on my fingertips. I am also not able to grab things using my finger tips. I sometimes get skin hardening on my face too. Once the skin around my mouth got so hard that I was not able to open my mouth and I still find it difficult to completely open my mouth.

I have difficulty in swallowing food and I need to always drink water with food to swallow.

My hands and legs gets cold very often and I can't tolerate cold weather, which my doctor suspected to be Raynaud's.

My NCV report shows damage to the nerves of my legs, which made me quite disable and that's why I get difficulty in walking too.

My symptoms do go with Scleroderma but I don't get why the ANA, ACA, and Scl70 of my blood report are normal? I have B12 deficiency too and it could be precious anemia too. Does that happen in Scleroderma?

I get whitish/flaky skin rash on my hands and legs, and I would like to know whether this happens in Scleroderma?

Flaky skin

[OldTed60 in reply to dacharya]

To be very honest it all could be scleroderma because it’s a different disease for each sufferer but it doesn’t sound typical to me. Asthma, COPD and others such as bronchiastasis are quite common whereas Systemic sclerosis is associated with rare and more specific lung disease, fibrotic and vascular in nature. The same applies to pernicious anaemia as a common and treatable autoimmune disease.

I don’t recognise the skin hardening you describe but then I don’t have this symptom of scleroderma so I’m the wrong person to advise. With no ANA or specific antibodies (there are 13!) and as a male you are unlikely to have systemic sclerosis but it is possible so perhaps biopsy of the hard skin might help confirm or exclude for you.

The gold standard test is a nailfold capillary test - although even this isn’t 100% guaranteed to confirm or exclude SSc. You should really be asking a specialist rheumatologist all these questions though rather than asking here as we aren’t medically trained here.

[dacharya in reply to OldTed60]

Thanks for explaining all that. May be the doctors didn't diagnose about my lungs condition properly. But one thing, on my ACA and Scl70 reports, the levels are showing 1.85 and 2.55. Now, as per the ACR criteria, it's above 1. But as per the report, it's not positive because the criteria for the report to be positive should be more than 20. So, which one should I consider, the ACR diagnosis or the report? Can anyone without autoimmune problem have any indication on ACA or Scl70 levels (even less than 1 but greater than 0)?

[OldTed60 in reply to dacharya]

As far as I’m aware ACA is more associated with Sarcoidosis than Scleroderma - which often causes different lung issues I believe. Regarding levels - I really wouldn’t rely on labs titres given by online resources because it all depends on your hospital lab ranges, which can differ greatly depending on which immunology lab panels they use. Really it’s up to a rheumatologist to interpret - certainly not for those like me or you on patient communities such as this.

[OldTed60 in reply to dacharya]

Here’s a photo of a table showing the EULAR/ ACR diagnostic criteria for you

a photo of a table showing the EULAR/ ACR diagnostic criteria

[StrixOccidentalis]

Like OldTed60 said, No.

A proper diagnosis will include, at a minimum, a positive ANA and a collection of symptoms. I think cases of a positive ANA without symptoms is rare since unless you are enrolled in some sort of research study, it is not common to do an ANA panel without a specific reason. More commonly, you will have one or more unexplainable symptoms that will eventually lead you to a Rheumatologist who will order an ANA series. In the US, this usually is a multi staged test where there is a general ANA test, that if positive will trigger more specific tests that culminate in tests for the "common" autoantibodies like anti-Scl-70, anti-SSA-Ro, etc. Even with positive results, your Rheumy will probably not diagnose a specific disease without multiple symptoms or additional tests like nailfold capillaroscopy.

I saw your other post re: Raynaud's. Have you recently been diagnosed with Raynaud's and are wondering what the underlying cause is?

[dacharya in reply to StrixOccidentalis]

Yes, I have Raynaud's but my rheumatologist had put question mark on the report because he is not sure whether it's really Raynaud's not not. My hands get painful and numb when they come in contact with cold. The color of my palm gets white after exposure to cold but never turns blue. However, after warming them, the color gets backs to light red and normal. I have only the 3 symptoms of CREST symptoms, which are Raynaud's phenomenon, esophageal dysmotility, and sclerodactyly. My ANA, ACA, and Scl70 are normal.

I have hard skin and damaged lungs (COPD).

Only the skin biopsy is not dome. So, can it be Scleroderma?