Complex syndromes, ambivalent diagnosis, and existential uncertainty: The case of Systemic Lupus Erythematosus (SLE)

Abstract

Systemic Lupus Erythematosus (SLE), also known as lupus, is an autoimmune disorder which is difficult to diagnose due to its manifold symptoms. Its complexity is part and parcel of the epistemological changes that scientific biomedicine is undergoing which in turn influence clinical practice. These changes lead to the well known and often-discussed frustration of patients who suffer from elusive disorders, long-term or chronic illnesses, and medically unexplained symptoms. Using ethnographic observations in combination with grounded theory methods this study explores SLE as one example of complex syndromes that the clinical practice of late modernity seems to bring about. It concentrates on the difficulties of diagnosing complex disorders from a medical point of view, then goes on to describe the impact this has on patients’ lives, and their reaction to this situation. I argue that ambivalent diagnosis leads to existential uncertainty amongst patients which in turn influence the doctor–patient relationship. In concluding, I suggest that medical sociology has to move from merely describing and analysing this emerging situation to suggesting strategies for integrating experiential knowledge into clinical practice, especially when it comes to medical and personal management of chronic disorders such as SLE.

Introduction

Systemic Lupus Erythematosus (SLE), also known as lupus, is a disorder of the immune system in which the organism fails to recognise the immune self and starts to destroy vital organs and functions of the body. Autoimmune reaction is thought to be the consequence of deregulated apoptosis, i.e. when many cells start their programmed cell death prematurely. It also may underlie and coincidently occur with multiple sclerosis, and to a certain extent with rheumatoid arthritis, with diabetes type 1, and with Crohn's Disease. What makes SLE stand out is that it is a systemic disorder, which means it affects the whole person: organs, skin, and the brain. Lupus has been known as a diagnostic concept for at least 150 years. From a historical perspective, the diagnostic concept mirrors the paradigms of the respective era; whilst it was classified as a disease of the skin in the heydays of dermatology at the end of the 19th century, it had been categorised as a disease of the immune system (Miescher & Fauconnet, 1954) in the 1950s, whereas it recently has been reclassified to a genetic disorder (Alarcón-Riquelme, 2005). From the point of medical sociology, it shares characteristics with other syndromes that emerged in late modernity such as fibromyalgia (Barker, 2005; Madden & Sim, 2006), chronic fatigue syndrome (Åsbring & Närvänen, 2003), irritable bowel syndrome (Adamson, 1997), or RSI (Arksey, 1998). All these syndromes have the trait of elusiveness in common: there is an overabundance of symptoms which do not contribute to a clinical diagnosis, aetiology is controversial, and ‘expert patients’ are often better informed about medical progress than their doctors because of the profusion of medical information that is available on the World Wide Web. In SLE, for instance, the symptoms do not match the criteria for diagnosis. Symptoms can include achy joints, fever, prolonged or extreme fatigue, arthritis, skin rashes, anaemia, kidney involvement, chest pain, a butterfly-shaped rash across the cheeks and nose, photosensitivity, hair loss, Raynaud's phenomenon, seizures, and mouth or nose ulcers (Tan, 1982). Amongst the criteria for diagnosis are the classic butterfly rash on the face, photosensitivity, oral ulcers, arthritis, pleurisies, renal disorder, and neurological problems such as ‘brain fog’, seizures, and haematological or immunological irregularities. People who suffer from these symptoms often find themselves in a diagnostic limbo because the diagnostic process is not straightforward, thus they sometimes face long periods of uncertainty (Corbin & Strauss, 1985; Nettleton, 2006).

Clinicians are at a loss to explain to the lay person how SLE is diagnosed and thus resort to analogies and metaphors: in their book Friendly Fire, David Isenberg and John Morrow, two immunologists, liken autoimmune diseases to a mosaic. They are produced like pictures or patterns ‘by cementing together small pieces of stone or glass’ (1995, p. 59). Isenberg and Morrow explain that ‘by reassembling the same pieces in a different order, another pattern or picture will emerge’ (Corbin & Strauss, 1985), describing the factors that contribute to the development of autoimmune disorders as genetic, diet, hormones, infections, and abnormalities in the enzyme system. All these factors can be rearranged so that different autoimmune diseases are produced. In the case of SLE, the factors are UV light, complement deficiency, genetic influence, hormonal components, infection, pathogenic antibodies, diet, and drugs. In order to illustrate the mechanisms that cause SLE, they use a card game analogy: the reader should imagine a new card game with the title ‘Health’. The cards have a variety of titles, such as ‘high fat diet’, ‘female’, ‘infection’, ‘complement deficiency’, and ‘antibodies’ (1995, p. 62). A combination of ‘female’, ‘age 20–45’, ‘with anti-DNA antibody production’, ‘human leucocyte antigen DR3’, ‘retroviral infection’, ‘complement abnormalities’ and ‘high fat diet’ would make up a ‘lupus hand’ (1995, p. 63). They point out that the mosaic and the card game analogies serve to emphasise that autoimmune diseases occur only after the interaction of many factors and acknowledge that ‘what remains more uncertain, and is the subject of much current medical research, is the precise interplay between these factors’ (1995, p. 63).

Medical sociologists have argued that medicine is a complex interaction between research, knowledge, and practice (Berg, 1998; Mol, 2002; Salter, 2004). Uncertainty is thus inherent in medicine and a by-product of this interplay (Fox, 2003; Salter, 2004). Adamson (1997) would go so far as to argue that there is a normative assumption that the ‘conundrum of an uncertain disorder’ will be ‘overcome by the eventual discovery of new findings, rules, laws, methods, procedures, experiments, surveys, theories, standards of rationality, and provisional truths’ (Adamson, 1997, p. 135). Zygmunt Bauman's (1993) analysis of late modern epistemological practices contradict this: he argues that late modernity is characterised by ambivalence and a proliferation of uncertainties, whilst at the same time claiming to strive for clarity and purity (Douglas, 1970). Scientific research, instead of clarifying complexity and contributing to knowledge, increases the intricacies. Attempts at problem solving create new areas of chaos. The very act of gaining control over disorder generates more ‘epistemological disorder’ instead of lessening it. Bauman points out that in late modern epistemologies, it is possible to assign one object or one event to more than one category (Bauman, 1993). Mol (2002) has applied this principle in her ethnography on atherosclerosis, arguing that medical practice creates a ‘body multiple’. Applying this argument to SLE, it becomes obvious that these multifaceted interpretations of singular but related occurrences are a symptom of late modernity. This practice has an effect on the way we conceptualise the relationship between mind and body, self and society, disorder and order. It is a hallmark of our age that we strive for clarity but, at the same time, we create multiple meanings for a singular phenomenon. These multiple meanings affect the way we experience, understand, and shape our bodies and consequently our disorders (Mol, 2002; Turner, 1996).

The tension between striving for clarity and the simultaneous production of complexity affects clinical practice. As mentioned above, there is a considerable amount of discussion within the medical scientific community as to whether SLE is an immunological, a neurological, or a genetic disorder (Staudt & Brown, 2000; Vyse & Kotzin, 1998). Lupus is chronic, complex and difficult to diagnose. Most patients report that warning signs include fatigue, fever, swollen joints, and skin rashes. Patients with a possible diagnosis of SLE are treated in rheumatology units, even though the cause for their symptoms lies in the immune system. Clinical research on autoimmunity is done by immunologists, but the medical professionals who treat SLE are mostly rheumatologists. While there is no known cure for SLE, anti-inflammatory drugs, anti-malarial, and steroids (such as cortisone) are often used to treat the symptoms. However, advances have been made with the development of stem cell transplantation as a cure for SLE (Sherer & Shoenfeld, 1998). Corticosteroids treat the symptoms, yet they do not cure the underlying cause. This uncertainty trickles down to medical practitioners and subsequently affects patients. Patients in this situation then do not only question the value of expert knowledge, but they also have to come to terms with an uncertain present and future. Any illness experiences can create a certain existential insecurity and uncertainty (Adamson, 1997). This experience is exacerbated when the disorder is hard to diagnose, when it is likely to result in the diagnosis of a chronic disorder, or when it involves the disruption of a previously projected life plan. As many sociologists have pointed out, a diagnosis has to make sense in order to be meaningful for the patient (Good 1994; Madden & Sim, 2006; Nettleton, 2006).

Despite recent improvements in diagnostic techniques, people who have SLE share a lot of experiences with people who live with medically unexplained symptoms (Nettleton, 2006). Medical sociologists have already pointed to the difficulties that people with medically unexplained symptoms, or symptoms of unknown aetiology, have to deal with (see Anderson & Bury, 1988; Corbin & Strauss, 1985; Mol, 2002). Adamson (1997, p. 134) discusses the existential uncertainty of ‘idiopathic diseases’, i.e. diseases which arise ‘spontaneously and from an obscure or unknown cause’ and points out that patients experience some kind of private existential uncertainty because they realise that their ‘future life of his or her mind, body, and self is in jeopardy’. Robinson (1990) has drawn our attention to the experiences of people with multiple sclerosis whose personal narratives and ‘social careers’ are often at odds with the projected medical courses of their illness.

In my own research on lupus, I found that the above-described complexity of the medical model was difficult to understand for my informants. Instead of experiencing the medical encounter as an attempt to shed light on their ailments, most of the people I interviewed felt even more uncertain. Adamson (1997) describes two uncertainties: one is the existential uncertainty of having to deal with the impact of uncertain diagnosis on life strategies, a second is an epistemological uncertainty which afflicts clinicians and patients alike.

In this paper, I discuss three aspects of living with the uncertainty of SLE: the first is the effect of an uncertain diagnosis on the lives of the ones who wait for a diagnosis. The second is how some people fight for a diagnosis and resist psychological explanations for their symptoms. The act of demanding legitimacy by becoming proto-professionals of their ills and suffering is a third consequence. The latter two reactions become survival strategies and take on different forms: my informants either integrated the medical model into their reasoning about their disorder or they felt frustrated and let down. It did not appear to be a problem for most of my informants to accept medical authority and expertise. However, the complexity of SLE, which influenced medical practice and the way information was communicated, shaped the relationship between medical authority and patients.