Making a Diagnosis in Rheumatology—Sometimes Easy, Sometimes Not

Introduction

Rheumatological conditions are systemic diseases that present in a multitude of manners. Different patterns of symptom presentation, pathological changes, abnormal investigations, natural history, and variable progression make rheumatology one of the most intriguing, clinically based, and challenging medical specialities remaining. There are over 200 different pathological conditions presenting in a myriad of ways.

Abstract

Rheumatological conditions present in a multitude of manners. There are different patterns of disease, natural history, and progression. Some conditions are severe and progressive while others have fluctuating or episodic symptoms. Symptoms and signs may not always coincide with the patient’s initial medical visit to the doctor, resulting in diagnostic difficulty.

Making a specific diagnosis is difficult in rheumatological conditions as many depend on heterogeneous diagnostic criteria and there are few single diagnostic tests. Many diagnoses are established based on a combination of clinical, laboratory, radiological, and histological investigations. These investigations are variable in their sensitivity and specificity. Pattern recognition appears to be the key to medical interpretation. This is dependent on the clinician’s prior experience and knowledge. Some rheumatological conditions evolve and a diagnosis is only established at a later point in time.

Making a definitive diagnosis is important to aid clinical management. It reduces the ambiguity of treatment, defines prognosis, and facilitates communication. It is also important for the patient to have that diagnosis to aid their understanding and education, and also be reassured about self-limiting conditions preventing learned behavior problems and potential chronic pain, disability, secondary gain,
and chronicity.

The probability of arriving at a diagnosis is most likely if the patient has active symptoms at the clinical assessment. Patients also prefer to be seen when they have active problems. This is not always the case if the symptoms are episodic and evanescent. Our current health system cannot ensure that this is possible in every case especially as the current trend is for nonclinicians to govern the process of arranging clinic rules. Thus, access to see a specialist when they need one is not always possible within the current UK NHS.

Within the UK, different models of follow-up and assessments are currently prevalent. They have been set up by clinicians based on the services available to facilitate making a definitive diagnosis at the earliest and improve patient care. An SOS (self-referral of symptoms) system seems to have some benefits in aiding diagnosis.

Keywords

Diagnostic Tests, Uncertainty, Rheumatological Disease, SOS