When 28-year-old Sana began to lose clumps of hair and to wake up with stiff, painful joints in her right hand, she told herself it was nothing but stress. Six months later, a rash across her cheeks flared and she developed breathlessness. Multiple doctors offered inhalers, creams, or reassurance that it would go away. It was only after a referral to a tertiary hospital that blood tests and specialist review produced a diagnosis. She had systemic lupus erythematosus (SLE), an autoimmune disease in which the body’s own immune system attacks skin, joints, kidneys, and other organs.
Sana’s story is far from unique. In Pakistan, a growing body of clinical research, hospital case series, and on-the-ground testimony from physicians and patients points to two linked truths that autoimmune diseases are not rare, and they are frequently missed, misdiagnosed, or diagnosed late, often with high financial and health costs for patients and families.
Unlike Sana, many children are born with eczema and other skin diseases, and the cure is nowhere to be found. “When my baby was born, he had no problem, but within a few weeks, he developed several allergies and acne on his face, which kept spreading all over his body,” shared Azra Ramsha, adding that after a few weeks of discomfort, she decided to consult a dermatologist because the rashes were not getting any better. Ramsha faced the same issue with both of her daughters and today lives a lifestyle that requires shampoos, face wash, lotions, and many other expensive creams to prevent the rash from flaring up and causing pain to her 5 and 7-year-old daughters.
What are autoimmune diseases?
Autoimmune diseases occur when the immune system, whose primary function is to defend the body against diseases, mistakenly targets healthy tissues. The spectrum is wide for it, as some are organ-specific, for example, type 1 diabetes targets insulin-producing pancreatic cells, while others are systemic, for example, rheumatoid arthritis RA and lupus, and can affect multiple organs. Globally, estimates suggest 5–10% of the population may be affected by one of the 80–100 recognised autoimmune conditions; women are disproportionately affected, making up roughly 4 of every 5 cases for some diseases.
While some autoimmune disorders are chronic but stable with treatment but others, left untreated, cause irreversible organ damage, disability, or life-threatening complications. Early recognition, specialist referral, and access to appropriate immunomodulatory therapy can substantially change outcomes. Delayed diagnosis often increases the risk of permanent damage.
The Pakistani dilemma
Pakistan lacks a single national registry for autoimmune disease, and comprehensive population studies are few. Nonetheless, hospital-based studies, specialist surveys, and international reports that include Pakistani cohorts paint a worrying picture. Rheumatoid arthritis (RA) prevalence in Pakistan is estimated at around 0.5% of the population in some studies, comparable to or slightly lower than global figures, but still representing hundreds of thousands of people. On the other hand, Type 1 diabetes and other autoimmune issues are increasingly reported in the younger generation. Screening studies in Pakistani diabetes clinics have found significant rates of additional autoimmune disorders in people with type 1 diabetes.
Autoimmune liver diseases and autoimmune hepatitis have been diagnosed in tertiary hospitals in Pakistan. While uncommon, they require specialised testing and early immunosuppression to avoid progression to cirrhosis. Perhaps the most shocking statistic comes from workforce data, published international reporting, and Pakistan-focused pieces which estimate that there are only a few dozen trained rheumatologists in the country. One article cited roughly 24 practitioners, an alarming, inadequate number given Pakistan’s population and the burden of rheumatic and autoimmune disease. That imbalance compounds diagnostic delay and limits ongoing specialist care.
Sana, a primary school teacher from Lahore, first noticed hair loss and fatigue. Her family doctor treated it as chronic stress and prescribed vitamins. When a facial rash appeared and she began to have joint pain, she visited multiple clinics. Blood tests at a public hospital finally revealed positive ANA and anti-dsDNA antibodies; a nephrology workup then showed early kidney involvement. “By the time I reached a rheumatologist, I had already lost good weeks of treatment,” she said, adding that early immunosuppression led to further kidney damage, but the delay increased anxiety, medical costs, and the issue of time away from work.
Farzana, in her early twenties, developed persistent joint swelling and morning stiffness. Family members advised time, rest, and local remedies. Tests ordered only after the pain became disabling showed elevated inflammatory markers and anti-CCP antibodies. A Pakistani study looking at diagnostic delay in RA patients reported median delays measured in months to years; practitioners point to cultural attitudes that normalise pain and to lack of specialist access as major causes. With early DMARD (disease-modifying antirheumatic drugs) therapy, Farzana’s disease was controlled, but many patients in less fortunate circumstances continue to deteriorate.
Bilal was diagnosed with type 1 diabetes at age 12. Routine screening later revealed hypothyroidism due to autoimmune thyroiditis, a familiar pattern in pediatric diabetes clinics in Pakistan. “No one realised until I fainted in school one day, because having diabetes as young as 12 is something no one can accept in my family,” Bilal shared, adding that he and his family had a history of diabetes, but even then, no one bothered to get it checked earlier.
Structural and cultural causes
Several overlapping factors explain why autoimmune diseases are under-recognised in Pakistan, such as a limited specialist workforce and diagnostic capacity. With very few rheumatologists and constrained laboratory services in many districts, patients are often managed for months or years by general practitioners without specialist tests (e.g., autoantibody panels). Studies documenting diagnostic delays and reports from clinicians confirm this bottleneck.
Many autoimmune disorders begin with fatigue, body aches, or intermittent rash symptoms commonly attributed to stress, ageing, or infection. “Cultural tendencies to downplay pain or to seek traditional remedies can delay biomedical evaluation,” shared Shahmeer Ahsan, practicing dermatologist, adding that most of the time patients come to them is after wasting years in general physician clinics.
Infectious diseases, maternal health, and non-communicable disease programmes (diabetes, cardiovascular disease) receive the bulk of public health attention, but autoimmune conditions sit between specialties and lack targeted national programmes or surveillance.
“Testing for autoantibodies, imaging, and specialist visits are expensive for many families. Travel to tertiary centres concentrates care in large cities, leaving rural populations underserved,” Ahsan shares. A cross-sectional study of diabetic patients in Rawalpindi highlighted financial strain and treatment compliance challenges that echo across chronic disease care.
Diagnosing autoimmune disease requires a combination of clinical and targeted testing. Careful history and examination to detect patterns (e.g., inflammatory joint pain, photosensitive rash, sicca symptoms of dryness). “Not everything is an infection and not every rash is eczema, it has types and kinds,” Ahsan explained, adding that patients take everything as the same and mostly follow the layman’s word and not believe the doctors.
Multiple studies in Pakistani hospitals highlight that delays at each step from GP visit to specialist referral to confirmatory testing are common. One Pakistan study of rheumatology clinic patients found that only about a fifth are presented to a rheumatologist within 12 weeks of symptom onset; such delays can close the window of opportunity for optimal response to therapy in conditions like early RA.
Manageable, not curable
For most autoimmune diseases, there is no cure; the goal of therapy is to control immune activity, prevent organ damage, and maintain quality of life. Therapeutic tools include symptomatic agents such as NSAIDs, analgesics, and short courses of corticosteroids for flares. Conventional DMARDs and immunosuppressants for severe disease, biologic agents, and targeted therapies are also highly effective in many cases but costly and often unavailable in public hospitals.
In Pakistan, clinicians say the cost and supply of biologics and long-term immunosuppressants remain serious barriers for many patients. Even when drugs exist in the market, affordability and monitoring for infection risk, blood counts, and liver function add complexity.
“We have a huge mismatch between burden and workforce,” says a rheumatologist involved in training programmes that are slowly expanding rheumatology capacity. A profile of rheumatology in Pakistan noted fewer than three dozen trained specialists caring for millions of people, a situation that extends waiting lists and delays care.
Clinicians in tertiary hospitals report that late presentations, for example, patients coming with already advanced lupus nephritis or erosive RA, are common and that psychosocial consequences job loss, family stress, and depression, are underappreciated. A Pakistani study showed depression was overlooked in nearly half of RA patients in some tertiary settings, arguing for integrated mental-health screening in chronic autoimmune care.
The rheumatologist also calls for education of general practitioners, scaled-up diagnostics in district hospitals, and the establishment of referral pathways so patients are seen by rheumatology, endocrinology, hepatology, or neurology teams when appropriate.
Exact national economic figures for autoimmune disease in Pakistan do not yet exist, but international analyses show chronic autoimmune conditions carry high lifetime costs due to medications, hospitalisations, lost productivity, and disability. In low and middle-income settings, out-of-pocket costs and the absence of social safety nets often push families into financial distress. Local cross-sectional research among diabetic patients demonstrates how treatment costs and compliance challenges interact in a pattern likely mirrored across autoimmune care.
Experts and clinicians interviewed suggested scaling up training and the workforce, expanding rheumatology, clinical immunology, and allied specialty training programmes, leveraging telemedicine, and visiting specialist clinics for rural districts. “Developing short symptom-recognition toolkits for family physicians and medical officers, and creating clear referral pathways to specialists, can help in coping with the menace,” Ahsan suggests. He also suggested that we subsidise core autoantibody testing and inflammatory markers at district hospitals, and develop regional labs to reduce travel and delay can help.
Other than that he also proposed that public awareness campaigns, symptom checklists, when to seek care and establish patient support organisations in major cities to reduce stigma and improve self-management. While creating a national registry for autoimmune diseases and standardising case reporting across tertiary hospitals to inform policy and resource allocation.
Where early recognition and coordinated care exist, outcomes improve. In tertiary centres across Pakistan, multidisciplinary clinics that combine rheumatology, nephrology, and dermatology have demonstrated better monitoring and faster initiation of disease-modifying therapy for conditions like lupus. Specialist training programmes often run with international partners are producing the next generation of clinicians. But scaling these pilots into nationwide systems will require political will, financing, and public engagement.
Bringing it out of the shadows
Autoimmune diseases are not exotic rarities; they are chronic, often disabling conditions that affect tens or hundreds of thousands of Pakistanis. Yet the current system too often allows these disorders to fester undetected until organ damage or functional loss becomes evident.
What Sana, Farzana, and Bilal’s lives experienced makes clear is that early recognition makes a difference, it saves function, reduces long-term cost, and preserves quality of life. To achieve that in Pakistan will take better data, wider public understanding, stronger primary care, more specialists, and fairer access to diagnostics and medicines.
This is a public-health and human-rights issue as much as a clinical one. As clinicians and patient advocates here say, it’s time to move autoimmune diseases from the clinic’s margins into mainstream health planning before the next set of patients lose precious months or years to diagnostic delay.