Late Diagnosis of Rare Diseases Adds To the Disease Burden

Diagnosis of lupus nephritis is often delayed with more than 60% of diagnosed prevalent cases of lupus nephritis seen in class IV and V in the UK as per the GlobalData, a leading data and analytics company.

"This could be due to an initial misdiagnosis of the disease, which results in late diagnosis or treatment beginning at a more advanced stage. According to GlobalData, diagnosed cases are increasing annually in the UK, with an annual growth rate (AGR) of 0.47% highlighting the importance for an increase in awareness", says Nneoma Okeke, Epidemiologist at GlobalData.

Lupus Nephritis - Causes, Symptoms, Diagnosis & Treatment
Lupus nephritis occurs in 60% of patients with systemic lupus erythematosus (SLE) and is classified into 6 categories. The symptoms are fever, joint pain, swelling, and proteinuria, among others.

‘Diagnosis of lupus nephritis is often delayed with more than 60% of diagnosed prevalent cases of lupus nephritis seen in later stages – class IV and V in the UK. Thus increased awareness of these rare diseases may help in developing prompt diagnosis and treatment strategies that would improve the quality of life in affected individuals.’

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Lupus nephritis is the inflammation of the kidney that is caused due to a rare autoimmune disease called systemic lupus erythematous (SLE). It is characterized by the body's immune system attacking its body tissues – kidneys in case of lupus nephritis.

Common symptoms of lupus nephritis include foamy urine, edema (swelling due to excess body fluid) in the legs, feet, or ankles, and less often in the hands or face, and high blood pressure.

Rare diseases affect millions of people worldwide and around 300 million people worldwide are affected by 6,000 identified rare diseases. Although most of these rare diseases are due to genetic predisposition, almost 30% result due to infections, allergies, and other environmental causes.

Systemic Lupus Erythematosus (SLE) - Causes, Symptoms, Diagnosis and Treatment
Systemic Lupus Erythematosus (SLE) is an autoimmune disease that affects multiple organs like the joints, skin, kidney, heart, lungs, blood vessels and brain.

"Rare diseases such as lupus nephritis are continually being discovered. As such, COVID-19 could play a role in the development of a new rare disease. While the COVID-19 pandemic is still ongoing, it is difficult to predict what residual effects will be seen in populations affected by the virus. However, there have already been reports of 'long COVID-19', where symptoms persist for over three months after a patient is diagnosed. Those with long COVID-19 will need to be monitored and evaluated further to get a better understanding of this disease, which may evolve into rare disease, " says Okeke.

The present data thus portrays the fact that increased awareness of the rare diseases may help in developing prompt diagnosis and treatment strategies that would improve the quality of life in affected individuals.

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Quick Stats on Lupus Nephritis

Around 1.5 million Americans, and at least five million people worldwide, have a form of lupus, developing between the ages of 15-44 as per the estimation of the Lupus Foundation of America
The incidence of the disease, frequency of its manifestations, and its therapeutic response depends greatly on sociodemographic factors such as sex, race, and ethnicity
Women (90%) especially those of childbearing age are most commonly affected as compared to men, children, and teenagers
50% of patients with SLE carry a major risk for developing lupus nephritis that contributes to overall morbidity and mortality in SLE
An estimated 10% of patients with lupus nephritis will develop End Stage Renal Disease (ESRD) – kidney failure
Immunosuppression therapy remains one possible strategy to control the disease with improved life expectancy and quality of life

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