Diagnostic delay is the time interval between the onset of symptoms and confirmed diagnosis of a disease. For a variety of reasons, including the mitigation of disease severity and financial expense, it is desirable for this delay to be minimized.
The importance of reducing diagnostic delay varies between diseases. An example of a high-stakes diagnostic delay is in ischemic stroke, in which the timeframe for delivery of potentially life-saving thrombolytic drugs is limited to the first few hours of the stroke. [1]
Pulmonary tuberculosis is a bacterial infection of the lungs by Mycobacterium tuberculosis (MTB) bacteria.
Diagnostic delay of tuberculosis (TB) can lead to an increased infectivity period, delayed treatment, and increased severity of the disease. A 2017 study of TB in India . A 2018 study in Zanzibar on a different form of TB, extrapulmonary tuberculosis, found many patients in the main hospital in Zanzibar experience a long delay in treatment, and that more timely treatment has the potential to reduce morbidity and the economic loss of the patient. [2]
Idiopathic pulmonary fibrosis (IPF) is a chronic scarring of the lung characterized by a progressive and irreversible decline in lung function. [3]
Surveys and retrospective studies of patients with IPF have indicated that there is a significant diagnostic delay, with a median of 2.1 years. The main factors related to the delay were male sex, a risk factor for patient delay, and old age, a risk factor for healthcare delay. [4]
A pulmonary embolism is a blockage of a pulmonary artery in the lungs, usually due to a blood clot traveling from the legs or, rarely, other parts of the body. This is called deep vein thrombosis. [5]
A study of 514 patients found 47% of them had a diagnostic delay of at least 3 days. This delay was attributed to the absence of major pulmonary embolism risk factors, or clinical presentations like chest pain, syncope, or the presence of dyspnea or hemoptysis. The delay was associated with a worst 30-day prognosis. [6]
Diagnostic delay is a major challenge in axial spondyloarthritis (AS), a chronic form of arthritis that causes significant lower-back or buttock inflammation that persists for over three months.
In 2003, there was typically a diagnostic delay of 5–10 years. [7] Reports from the Danish nationwide DANBIO registry hint that in Denmark, the average diagnostic delay for AS diminished from 5.5 years in 2000 to 3–4 months in 2011. [8] In France, the 2017 median diagnostic delay elucidated from a cross-sectional study was 2 years. [9]
Ankylosing spondylitis (AS) is a type of arthritis characterized by long-term inflammation of the joints of the spine, typically where the spine joins the pelvis. Occasionally, areas affected may include other joints such as the shoulders or hips. Eye and bowel problems may occur as well as back pain. Joint mobility in the affected areas generally worsens over time.
Interstitial lung disease (ILD), or diffuse parenchymal lung disease (DPLD), is a group of respiratory diseases affecting the interstitium and space around the alveoli of the lungs. It concerns alveolar epithelium, pulmonary capillary endothelium, basement membrane, and perivascular and perilymphatic tissues. It may occur when an injury to the lungs triggers an abnormal healing response. Ordinarily, the body generates just the right amount of tissue to repair damage, but in interstitial lung disease, the repair process is disrupted, and the tissue around the air sacs (alveoli) becomes scarred and thickened. This makes it more difficult for oxygen to pass into the bloodstream. The disease presents itself with the following symptoms: shortness of breath, nonproductive coughing, fatigue, and weight loss, which tend to develop slowly, over several months. The average rate of survival for someone with this disease is between three and five years. The term ILD is used to distinguish these diseases from obstructive airways diseases.
Pulmonary fibrosis is a condition in which the lungs become scarred over time. Symptoms include shortness of breath, a dry cough, feeling tired, weight loss, and nail clubbing. Complications may include pulmonary hypertension, respiratory failure, pneumothorax, and lung cancer.
Hypersensitivity pneumonitis (HP) or extrinsic allergic alveolitis (EAA) is a syndrome caused by the repetitive inhalation of antigens from the environment in susceptible or sensitized people. Common antigens include molds, bacteria, bird droppings, bird feathers, agricultural dusts, bioaerosols and chemicals from paints or plastics. People affected by this type of lung inflammation (pneumonitis) are commonly exposed to the antigens by their occupations, hobbies, the environment and animals. The inhaled antigens produce a hypersensitivity immune reaction causing inflammation of the airspaces (alveoli) and small airways (bronchioles) within the lung. Hypersensitivity pneumonitis may eventually lead to interstitial lung disease.
Retroperitoneal fibrosis or Ormond's disease is a disease featuring the proliferation of fibrous tissue in the retroperitoneum, the compartment of the body containing the kidneys, aorta, renal tract, and various other structures. It may present with lower back pain, kidney failure, hypertension, deep vein thrombosis, and other obstructive symptoms. It is named after John Kelso Ormond, who rediscovered the condition in 1948.
Certolizumab pegol, sold under the brand name Cimzia, is a biopharmaceutical medication for the treatment of Crohn's disease, rheumatoid arthritis, psoriatic arthritis and ankylosing spondylitis. It is a fragment of a monoclonal antibody specific to tumor necrosis factor alpha (TNF-α) and is manufactured by UCB.
Caplan's syndrome is a combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogeneous and well-defined on chest X-ray.
The BASDAI or Bath Ankylosing Spondylitis Disease Activity Index is a validated diagnostic test which allows a physician, usually a rheumatologist, to determine the effectiveness of a current drug therapy, or the need to institute a new drug therapy for the treatment of Ankylosing spondylitis (AS). The BASDAI is one of a group of classification criteria for spondyloarthropathies.
Biological response modifiers (BRMs) are substances that modify immune responses. They can be endogenous or exogenous, and they can either enhance an immune response or suppress it. Some of these substances arouse the body's response to an infection, and others can keep the response from becoming excessive. Thus they serve as immunomodulators in immunotherapy, which can be helpful in treating cancer and in treating autoimmune diseases, such as some kinds of arthritis and dermatitis. Most BRMs are biopharmaceuticals (biologics), including monoclonal antibodies, interleukin 2, interferons, and various types of colony-stimulating factors. "Immunotherapy makes use of BRMs to enhance the activity of the immune system to increase the body's natural defense mechanisms against cancer", whereas BRMs for rheumatoid arthritis aim to reduce inflammation.
Idiopathic pulmonary fibrosis (IPF), or (formerly) fibrosing alveolitis, is a rare, progressive illness of the respiratory system, characterized by the thickening and stiffening of lung tissue, associated with the formation of scar tissue. It is a type of chronic scarring lung disease characterized by a progressive and irreversible decline in lung function. The tissue in the lungs becomes thick and stiff, which affects the tissue that surrounds the air sacs in the lungs. Symptoms typically include gradual onset of shortness of breath and a dry cough. Other changes may include feeling tired, and abnormally large and dome shaped finger and toenails. Complications may include pulmonary hypertension, heart failure, pneumonia or pulmonary embolism.
Golimumab is a human monoclonal antibody which is used as an immunosuppressive medication and sold under the brand name Simponi. Golimumab targets tumor necrosis factor alpha (TNF-alpha), a pro-inflammatory molecule and hence is a TNF inhibitor. Profound reduction in C-reactive protein (CRP) levels, interleukin (IL)-6, intercellaular adhesion molecules (ICAM)-1, matrix metalloproteinase (MMP)-3, and vascular endothelial growth factor (VEGF) demonstrates golimumab as an effective modulator of inflammatory markers and bone metabolism.
Usual interstitial pneumonia (UIP) is a form of lung disease characterized by progressive scarring of both lungs. The scarring (fibrosis) involves the pulmonary interstitium. UIP is thus classified as a form of interstitial lung disease.
High-resolution computed tomography (HRCT) is a type of computed tomography (CT) with specific techniques to enhance image resolution. It is used in the diagnosis of various health problems, though most commonly for lung disease, by assessing the lung parenchyma. On the other hand, HRCT of the temporal bone is used to diagnose various middle ear diseases such as otitis media, cholesteatoma, and evaluations after ear operations.
Fibrous ankylosis is a condition that affects fibrous connective tissue causing a limited range of movement.
Pirfenidone, sold under the brand name Pirespa among others, is a medication used for the treatment of idiopathic pulmonary fibrosis. It works by reducing lung fibrosis through downregulation of the production of growth factors and procollagens I and II.
Diffuse idiopathic skeletal hyperostosis (DISH) is a condition characterized by abnormal calcification/bone formation (hyperostosis) of the soft tissues surrounding the joints of the spine, and also of the peripheral or appendicular skeleton. In the spine, there is bone formation along the anterior longitudinal ligament and sometimes the posterior longitudinal ligament, which may lead to partial or complete fusion of adjacent vertebrae. The facet and sacroiliac joints tend to be uninvolved. The thoracic spine is the most common level involved. In the peripheral skeleton, DISH manifests as a calcific enthesopathy, with pathologic bone formation at sites where ligaments and tendons attach to bone.
Tofacitinib, sold under the brand Xeljanz among others, is a medication used to treat rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, polyarticular course juvenile idiopathic arthritis, and ulcerative colitis. It is a janus kinase (JAK) inhibitor, discovered and developed by the National Institutes of Health and Pfizer.
Nintedanib, sold under the brand names Ofev and Vargatef, is an oral medication used for the treatment of idiopathic pulmonary fibrosis and along with other medications for some types of non-small-cell lung cancer.
Axial spondyloarthritis is a chronic, autoinflammatory disease predominantly affecting the axial skeleton. The phrase itself is an umbrella term characterizing a diverse disease family united by shared clinical and genetic features, such as the involvement of the axial skeleton. The best-known member of the axial spondyloarthritis disease family is ankylosing spondylitis. The 2009 introduction of the expression axial spondyloarthritis made it possible to refer to (1) less severe forms of spondylitis, (2) the early phase of ankylosing spondylitis and (3) ankylosing spondylitis itself collectively.
Louise V. Wain is a British genetic epidemiologist currently serving as the British Lung Foundation Chair in Respiratory Research at the University of Leicester. Her research considers idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease. During the COVID-19 pandemic, Wain studied the long-term impacts of COVID-19.