| What is Scleroderma? (MAIN MENU) |
| This page was written by Shelley Ensz, and has not yet been medically edited. See Disclaimer. |
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| Difficult Diagnosis |
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| Rare Disease |
| 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. |
| Scleroderma in a Population-based Sample: Evidence Suggests Increasing Incidence. In this large population-based sample, there was evidence of increasing incidence for generalized scleroderma over the interval 1994 to 2003. Part of the observed trend in incidence may reflect an increasing recognition of the disease in the population by physicians. S. Bernatsky. 1193/425. ACR 2007. (Also see: About Scleroderma) |
| 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. |
| Patients with systemic autoimmune diseases could not distinguish comorbidities from their index disease. Patients with systemic autoimmune diseases cannot distinguish true comorbidities from conditions related to their index disease and, as such, a self-administered comorbidity questionnaire does not appear useful in these diseases. (PubMed). J Clin Epidemiol. 2008 Jul;61(7):654-62. |
| Fighting the battles within: Doctors say medicine is gaining ground in thwarting hard-to-diagnose diseases. Advancements in the understanding of autoimmune diseases in recent years have helped doctors to diagnose patients more accurately, but even now, for every patient who is diagnosed quickly with a particular disease, there are five patients who don’t receive a definitive diagnosis. Spokane Journal of Business. 03/22/07. (Also see: Autoimmunity) |
| 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. |
| Time to Diagnosis in Systemic Sclerosis: Is Gender a Factor? In SSc, the time to diagnosis is long, and it is longer for women than men. It is possible that there are differences in early disease progression between men and women with SSc, although there is currently no evidence for this. Marie Hudson 1201/433. ACR 2007. |
| Systemic sclerosis - diagnosis and classification. Early diagnosis and classification may be difficult if disease expression is oligosymptomatic (undifferentiated), presenting with only Raynaud's phenomenon or limited scleroderma. PubMed. Z Rheumatol. 2006 Jun 28. (Also see: Types of Scleroderma) |
| Borderline Rheumatic Conditions. One of the major advances in our understanding of rheumatic illness is that we now know that it is quite common to suffer from an illness which cannot be given a definite name, but which is none the less very real and can cause a lot of distress and anxiety. Lots of different names can be used for these illnesses, which often makes patients confused. The name "borderline rheumatic illness" is perhaps easiest to understand. Professor J.C.W. Edwards MD FRCP, Professor in Connective Tissue Medicine, University College, London. Lupus Support. |
| 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. |
| Familial scleroderma (FS): nature, nurture or both? Familial limited scleroderma has a longer prediagnostic latency than familial diffuse scleroderma. FS is likely under-ascertained. In limited scleroderma, Raynaud's or first symptom onset is possibly more genetically determined. A diagnosis due to second symptom onset is more environmentally determined. (PubMed) Intern Med J. 2008 Apr;38(4):235-42. (Also see: Causes of Scleroderma: Genetics and Environmental) |
| 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 2006 June;33:1123–7. (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. |
| What women don't tell their doctors, but should. Don't be embarrassed. Tell your doctor everything — there is nothing your doctor hasn't heard before. MSNBC Today Show. 07/30/06. |
| 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. |
| Scleroderma Experts: Scleroderma Clinical Trials Consortium |
| 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 Scleroderma Clinical Trials Consortium for a scleroderma specialist nearest you. |
| 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 realised 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... |
