Dare to think rare: diagnostic delay and rare diseases

Abstract

On receiving a link in my local authority's e-newsletter, I entered my details in Public Health England's 'One You' online heart age checker. 1,2 I am a 34 year-old, male, non-smoker, (BMI) 21.5, normal systolic blood pressure (113 mmHg), cholesterol unknown, with no family history or other risk factors for heart disease. I was told my heart age is 34 and given lifestyle advice. However, I was then told my cholesterol 'Is not known-GET TESTED' in large red letters, and that, although I wouldn't be automatically invited by my GP to have my cholesterol checked, I should get into the habit of 'knowing my numbers'. Using the information I provided (without cholesterol), my QRisk2 score could easily be calculated at 0.6%. 3 Even if my cholesterol was raised, statin medication would not be indicated according to current guidelines, but rather lifestyle advice, 4 which was recommended anyway. Despite large meta-analyses, there is no evidence that cardiovascular screening of asymptomatic subjects reduces mortality or morbidity, with little attention paid to the harms of screening in studies to date. 5 There remain significant concerns about the clinical and cost-effectiveness of the politically driven NHS Health Check Programme for 40-74-year-olds. 6 The likelihood of benefit of cholesterol screening in younger groups under 40 years seems even more unlikely. All this when the NHS and primary care are under huge strain trying to provide evidence-based care that is actually needed. Why is this irresponsible advice being given and when will it be changed?

Depression and Anxiety in Patients with Rare Diseases during the COVID-19 Pandemic

“…This fact has a negative impact on the diagnostic phase, making it hard to establish a definitive diagnosis at early stages. Diagnostic delay [ 5 ] hinders clinical management of the disease, leading to a situation of uncertainty and chaos that is harmful for the patient, worsening the symptoms of their disease and increasing the likelihood of development of mental disorders.…”

Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy

“…Of note, there was no change in the use of diagnostic tools during the study period. There is an open debate on how to improve the diagnostic delay for patients with rare diseases, which is on average 4.8 years [14]. For many patients with rare diseases, their 'diagnostic odyssey' might be partly related to a delayed referral from primary care physicians, especially if patients present with common symptoms like fatigue and itch; more importantly, multiple clinical centres, specialties, and investigations are involved after the referral.…”

Quantitative retrospective natural history modeling for orphan drug development

“…The lack of diagnostic suspicion or limited knowledge of these diseases among physicians can lead to delayed diagnosis which may impede appropriate disease management, delay therapy (if available), impose psychological burden on the family of an afflicted child due to uncertainties, and render family planning difficult. 35 Diagnostic delay, that is, the time between onset of disease and confirmation of the diagnosis, represents an indirect measure of disease awareness ( Figure S2). Survival rates can be computed with Kaplan-Meier estimates ( Figures 3-5 and S3).…”