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Difficult Diagnosis

Rare Disease
Resembles Other Disorders
Vague Initial Symptoms
Prodromal Illness
Reluctance to Diagnose
Don't Meet Criteria
Huge Toll On Patient
Scleroderma Experts
Skin or Renal (Kidney) Biopsies
Don't Ask, Don't Tell
Give Permission to Diagnose
They Feed All Dogs Dog Food
Finding Support
What to Tell People
Getting Un- and Re- Diagnosed
Patient Stories of Difficult Diagnosis

Rare Disease

Difficult Diagnosis of Scleroderma Video
Video: Difficult Diagnosis of Scleroderma

Presented by Amanda Thorpe
*More Sclero Videos*

Proper diagnosis of scleroderma is often long and difficult, since it is a such a rare disease, and one which few doctors or patients are well-versed in.

The differential diagnosis of systemic sclerosis. Skin thickening is a nonspecific manifestation of many different processes including (rarely) early scleroderma, which is mostly symmetrical and associated with Raynaud's phenomenon, nailfold capillaroscopic changes and antinuclear antibodies. PubMed, Curr Opin Rheumatol, 2013 Nov;25(6):692-9.

Your Physical Illness May Now Be Labeled a Mental Disorder. Somatic Symptom Disorder is defined so over inclusively by DSM 5 that it will mislabel 1 in 6 people with cancer and heart disease; 1 in 4 with irritable bowel and fibromyalgia. Psychology Today, 01/17/2013. (Also see Anxiety and Attitude)

Scleroderma Dramatically Under-Diagnosed With Commercial Screening Method. New research suggests that up to 40 percent of scleroderma patients will not be correctly diagnosed with the disorder using a new automated commercial screening test for detecting antibodies. PhyOrg, 11/08/10.

Scleroderma (SSc). Finding out that a person has scleroderma can be a long and frustrating journey. Part of the reason for this is that few doctors see many cases of SSc. Another reason is that the medical definition of SSc is so complex, involving many symptoms that may appear at different times in different forms in different people. And in the early stages, SSc is easily mistaken for other connective tissue diseases, such as systemic lupus erythematosus, polymyositis and rheumatoid arthritis. Meggan Mackay, M.D., M.S., and Peter Barland. The Doctor Will See You Now. January, 2010.

Resembles Other Disorders

In the early stages (which sometimes drags on for months or years), scleroderma may resemble many other connective tissue diseases, such as Systemic Lupus Erythematosus, Polymyositis, and Rheumatoid Arthritis, just to name a few.

Diseases Similar to Scleroderma ISN.

Scleroderma often left undiagnosed. Research conducted by the Irish Raynaud's and Scleroderma Society found that the average time between diagnosis of Raynaud's and scleroderma is 6.7 years. In most cases, these diagnoses were made by rheumatologists, however there is an extreme shortage of consultant rheumatologists in Ireland, which can make diagnosis even more difficult. Deborah Condon. Irish Times. 04/07/10.

Vague Initial Symptoms

Many initial symptoms may be rather vague (fatigue, achiness, cold hands, slight trouble swallowing), which often causes doctors, and sometimes even the patients, to wrongly assume that the symptoms are psychosomatic.

Prodromal Illness

Prodromal illness is the term for onset of illness. In the early stages of illness, when symptoms are often rather nonspecific, it is very easy for us to become entirely focused on "achieving" a diagnosis.

After all, it is nerve-wracking not knowing for sure what is wrong with us, we think a proper diagnosis is critical to receiving the proper treatment, and it can also become a battle for self-esteem, to reassure ourselves and others that we have a "real" illness and that this is not just all in our heads.

Reluctance to Diagnose

Many doctors shy away from diagnosing scleroderma, if it can possibly be avoided, since they fear a diagnosis will make the patient uninsurable, and possibly depressed. Some also argue that since there is no treatment and no cure, it would be an adverse diagnosis, with no benefit to the patient.

Scleroderma: Health Services Utilization from Patients' Perspective. Less than half of patients were diagnosed by a rheumatologist and time to diagnosis from onset of symptoms has remained unchanged over the last 3 decades. Despite their complex, multisystemic disease, less than 50% of patients see sub-specialists or had baseline screening tests for organ involvement of their systemic sclerosis. J Rheumatol. (Also see Medical Tests)

Do Not Meet Criteria

At times, a doctor (or patient) may strongly suspect scleroderma but the patient fails to meet the stringent diagnostic criteria. The most quickly diagnosed patients are usually those who have unmistakable sclerodactyly early on, or the proper scleroderma antibodies in their blood.

Systemic Sclerosis: Establishing Diagnostic Criteria. We conclude that important diagnostic clues in patients with SSc include Raynaud phenomenon, skin involvement, clinically visible mat-like telangiectasias, and SSc-related autoantibodies. Hudson, Marie MD. Medicine. May 2010. Vol. 89. I3. Pp 159-165.

Diagnosis and Classification of Systemic Sclerosis (SSc). Patients with limited SSc (lSSc) must have Raynaud's phenomenon and SSc specific nail fold capillary changes and/or SSc specific autoantibodies. Some lSSc patients who have no cutaneous involvement but common SSc nail fold capillaroscopy abnormalities, specific antinuclear antibodies, and visceral involvement are sometimes called SSc sine scleroderma. Eric Hachulla. Clinical Reviews in Allergy and Immunology. February 09, 2010. (Also see Types of Scleroderma)

Huge Toll on Patient

Often such diagnostic uncertainty and frustration takes a huge toll on the psychological well-being of these patients, who describe their journey to diagnosis as being by far the most difficult part of their illness.

ISN Guide to Scleroderma Experts

Analyze what might be the root cause of your nondiagnosis and rectify that. If it is your doctor's reluctance to diagnose scleroderma, or perhaps inexperience with it, you might benefit from a consultation at a scleroderma treatment center. See the ISN Guide to Scleroderma Experts to find a rheumatologist with significant scleroderma training and experience.

Skin or Renal (Kidney) Biopsies

Sometimes scleroderma is diagnosed by skin or renal (kidney) biopsies. If you want to take a more aggressive approach like this towards diagnosis, discuss the risks and benefits with your doctor.

Don't Ask, Don't Tell

Some patients strike a balance where they know they have scleroderma but it is never put in their medical chart, which keeps them insurable. This is possible in cases where blood tests and biopsies do not confirm the diagnosis and thus force it into the medical record.

Give Permission to Diagnose

If you need a diagnosis for your own peace of mind, and you are without insurance concerns, and you believe you meet the criteria for diagnosis yet do not have any findings which force it into your record, its possible you might "achieve" a diagnosis by telling your doctor that you know scleroderma is an adverse diagnosis, but if you have it, you are "willing to take the diagnosis" as you want it for your own peace of mind.

If your doctor still balks at this on the grounds that you would not "benefit" by the diagnosis in terms of any change in treatment (which is very often the case), you can either learn to live with it, or go to a scleroderma specialist (see above.)

They Feed All Dogs Dog Food

Some rheumatologists feel that it isn't important to distinguish among the connective tissue diseases, since what matters most is that the symptoms are treated, not the disease. As one put it, "It does not matter if you're a pedigree (such as scleroderma) or a mutt (such as UCTD), since we feed all dogs dog food anyway."

Finding Support

It can also be problematical finding a support group when we do not have the proper diagnostic credentials. This is especially ironic since for most of us, the diagnosis is the worst part of the journey. Rest assured that diagnosis is long-drawn-out for the majority of autoimmune patients, so the support groups are very understanding and accommodating of this.

Pick a support group in which the disease matches most of your symptoms and go there. In the end, you will have either picked the right one, or you will become convinced you're not the same as them and thus know to look in other diagnostic directions.

What To Tell People

What do you tell people when your diagnosis changes from week to week, or never arrives? One thing you can do is educate those close to you about prodromal illness. You'll find the better you accept the situation yourself, the better those around you will, too.

We can make jokes about it. Make up our own pet names for it. Lupusclero? Sclerolupa? Don't-know-itis? We can quit saying "I'll be happy when I am diagnosed" and get busy being happy right now.

Getting Un- and Re- Diagnosed

Many of us with connective tissue disease are enrolled in the Diagnosis of the Month Club. It is very common for lupus patients, for example, to be diagnosed, undiagnosed, rediagnosed, etc. in a never-ending stream of confusion. So put your chin up and prepare yourself emotionally for a roller-coaster ride, often even after the precious diagnosis is finally garnered for the first time.

Patient Stories: Difficult Diagnosis

Amy B: Limited Scleroderma with CREST I am a full time pharmacist in a pediatric hospital. In February or March of this year, I began to be very intolerable of the cold…

Andi P: UCTD and Possible Scleroderma It is believed that I do have an autoimmune disease they are not sure if it is systemic or not, but I know what I live through on a daily basis…

Anna: Linear Scleroderma (Poland) I realized that it is not worthwhile to give up, even during the most difficult moments; it is necessary to fight and to believe that it will be better. If I had not believed I would not have been alive now…

More Story Listings of Difficult Diagnosis…

Go to Patient Stories of Difficult Diagnosis
 
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