Identification and Diagnosis Chapter 4: Overcoming Delayed Diagnosis

Return to the series here. 

Hello, and welcome to this program. 

In this session, we’ll discuss how to identify interstitial lung disease, or ILD, in patients with systemic autoimmune rheumatic disease, or SARD. These conditions include rheumatoid arthritis, systemic sclerosis, inflammatory myopathy or myositis, mixed connective tissue disease, and Sjögren disease. 

The goal today is to walk through the diagnostic pathway— pulmonary function testing, or PFTs, high-resolution computed tomography, or HRCT, and multidisciplinary discussion—and to show how this plays out in a patient scenario. 

To bring this to life, I want to introduce you to Maria. 

Maria is a 48-year-old woman with seropositive rheumatoid arthritis, or RA. Recently, she’s noticed something new: progressive exertional shortness of breath and a persistent dry cough. These symptoms have been present for several months. They’re nonspecific, and they haven’t gone away. 

Today, we’ll keep coming back to Maria as our guide. She represents many patients we see in the clinic—someone with well-controlled joint disease who suddenly develops respiratory symptoms. 

Now, let’s address the elephant in the room: diagnostic delay.  Why does diagnostic delay matter? More than half of people living with systemic sclerosis will develop ILD, which remains the leading driver of death and hospital admissions in that population. In RA, ILD is likewise a serious extra-articular complication and the second leading cause of death.  Across SARDs, that we have defined before, some patients face a particularly aggressive, rapidly progressive form of lung involvement, making early diagnosis critical. 

A study of 97 patients showed that diagnostic delay is common in ILD. In a mixed-methods study from Canada, the median time from symptom onset to ILD diagnosis was about 12 months. Nearly half of the patients waited more than a year for a diagnosis. Patients with an earlier CT scan were diagnosed sooner, and those with an HRCT scan was available before referral were triaged more urgently. 

A majority of patients (51%) themselves reported that their lung disease wasn’t recognized early enough. Delays came from multiple places: attributing symptoms to aging or comorbidities, misdiagnoses like chronic obstructive pulmonary disease or asthma, long waits to get an HRCT, and delayed referral to pulmonology. 

For Maria, the risk of delay is real. Her symptoms could easily be attributed to deconditioning, anemia, or even asthma. However, the lesson is that earlier suspicion leads to earlier imaging and earlier treatment initiation. 

So how do we shorten the diagnostic pathway? 

There are a few practical steps: 

• Screen at-risk autoimmune patients during routine visits by listening to the bases of the lungs at the mid-axillary line at every visit. Use your stethoscope. 

• Order PFTs and HRCT as screening tests promptly when symptoms are present, even if the examination is unrevealing. 

• Don’t wait for patients to volunteer symptoms; ask them directly. Even mild breathlessness, cough, or reduced activity can be early ILD signals that warrant investigation. 

• Maintain a lower threshold for referral to pulmonology. 

One more principle: do not normalize exertional dyspnea in autoimmune populations. If a patient like Maria reports breathlessness, investigate with an HRCT. A lower threshold for workup can shorten the time needed for a confident diagnosis and coordinated care for Maria.

Let’s bring this back to our patient. 

Maria is a 48-year-old with seropositive RA. She now has progressive exertional dyspnea and cough. As part of the workup, assess risk factors such as disease activity, other extra-articular signs, presence and titer of autoantibodies, and listen for fine inspiratory crackles at the bases of the lungs. 

Your next steps? Order PFTs with DLCO and an HRCT of the chest or thorax. At this point, you may also decide to reach out to your pulmonology and radiology colleagues to ensure accurate assessment and diagnosis. 

Together, you decide that Maria’s features are consistent with RA-associated ILD.  

Most importantly, you have given Maria a timely, confident diagnosis, and you can now move to coordinated care. 

So, what are the take-home messages from Maria’s case? 

• In autoimmune disease, ILD is common and serious. Rheumatologists are often the gatekeepers to making a timely diagnosis. 

• Red flags include exertional dyspnea, dry cough, fine inspiratory crackles, and desaturation on exertion. 

• Don’t wait for symptoms, since patients are often asymptomatic until lung function is already significantly impaired. 

• Risk factors for RA-ILD include age, male sex, smoking, high disease activity, and seropositivity for antibodies. 

• HRCT is the pivotal imaging tool, and DLCO is often the earliest physiologic abnormality. 

• Diagnostic delays are common but can be shortened by earlier suspicion, HRCT, and a prompt referral to your pulmonology colleague. 

Thank you for watching. 

We’ve followed Maria’s story from her first nonspecific symptoms through the red flags, risk stratification, diagnostic testing, and multidisciplinary review. 

Maria’s case illustrates the broader lesson: early suspicion, structured evaluation, and collaborative care make the difference. 

If you adopt this pathway in your clinic — screen, test, image, and discuss early — you’ll help patients like Maria avoid delays and receive the care they need. 

For more resources, please visit the Rheumatology and Arthritis Learning Network. 

6MWT – Six-minute walk test 
ANA – Antinuclear antibody 
Anti-CCP – Anti–cyclic citrullinated peptide antibody 
Anti-Ro52 – Anti-Ro/SSA autoantibody 
CTD-ILD – Connective tissue disease–associated interstitial lung disease 
DLCO – Diffusing capacity of the lungs for carbon monoxide 
FVC – Forced vital capacity 
GGO – Ground-glass opacity 
HRCT – High-resolution computed tomography 
IIM – Inflammatory idiopathic myopathy / inflammatory myositis 
ILD – Interstitial lung disease 
IPF – Idiopathic pulmonary fibrosis 
L – Liters 
LIP – Lymphocytic interstitial pneumonia 
MCTD – Mixed connective tissue disease 
MDD – Multidisciplinary discussion 
MDT – Multidisciplinary team 
NSIP – Nonspecific interstitial pneumonia 
OP – Organizing pneumonia 
PFT – Pulmonary function test 
PPF – Progressive pulmonary fibrosis 
RA – Rheumatoid arthritis 
RF – Rheumatoid factor 
SARD – Systemic autoimmune rheumatic disease 
SSc – Systemic sclerosis 
SS – Sjögren disease 
sec – Seconds 
UIP – Usual interstitial pneumonia 
VA – Alveolar volume 

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