Webinar Summary for Doctors: Beyond the Illusion: Unravelling the Puzzle of aHUS

A recent multidisciplinary webinar jointly organized by NephroPlus, the Atypical HUS India Foundation and the Kidney Warriors Foundation, with support from AstraZeneca, brought together leading experts in complement-mediated diseases to examine current challenges, evolving strategies, and systemic gaps in the management of atypical hemolytic uremic syndrome (aHUS). Participants included clinicians with extensive experience in adult and pediatric thrombotic microangiopathies (TMAs) such as Dr. Vivekanand Jha, Dr. Arvind Bagga, Dr. Nicole Isbel, Dr. Aditi Sinha, Dr. Manisha Sahay, Dr. Raja Ramchandran, Dr. Sreebhushan Raju, Dr. Sayali Thakare, Dr. Sandhya Suresh and Dr. Arun. The session aimed to distill global experience, regional realities, and clinical insights into a cohesive framework for improving diagnosis and care of complement-mediated TMA in India.

Diagnostic Complexity in Complement-Mediated TMA

One of the recurrent themes was the inherent diagnostic complexity of aHUS and its frequent misclassification in early stages. The syndrome often presents with the familiar triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury—features that overlap significantly with sepsis, malignant hypertension, shiga-toxin–associated HUS, pregnancy-related disorders, and thrombotic thrombocytopenic purpura (TTP). This overlap leads to delayed recognition in peripheral centers, where supportive care is often initiated without a dedicated evaluation for complement-mediated disease.

Experts emphasized that certain patterns should heighten suspicion for complement-mediated TMA: disproportionately severe AKI relative to systemic illness, persistent thrombocytopenia despite clinical improvement elsewhere, markedly elevated LDH, and schistocytosis. Early ADAMTS13 testing was highlighted as a critical step in distinguishing complement-mediated processes from TTP, and several speakers underscored the importance of not allowing the absence of immediate ADAMTS13 results to delay the initiation of diagnostic pathways or consideration of complement blockade.

Importance of Early Complement Blockade

Timely initiation of C5 inhibition remains the single most important modifiable determinant of renal recovery in aHUS. International registries and national cohorts demonstrate that earlier initiation leads to a higher likelihood of renal salvage, fewer long-term dialysis requirements, and lower relapse risk. Plasma exchange, once a mainstay of therapy, is now recognized as potentially counterproductive once complement blockade is initiated, given its impact on drug clearance.

Neurological involvement, while variably reported in literature, was discussed as a marker of severe endothelial injury. In such situations, early and aggressive complement inhibition may help halt progression. Similarly, postpartum TMAs that fail to improve after several days of supportive care may represent complement-driven endothelial injury rather than classical preeclampsia or HELLP syndrome, warranting reconsideration of therapeutic priorities.

Complement Testing and Genetic Evaluation

The webinar highlighted the dual importance and limitation of genetic testing in aHUS. While genetic variants in complement regulators and effectors—such as CFH, CFI, MCP, C3, and CFHR rearrangements—provide valuable prognostic information, their absence does not exclude complement dysregulation. This is especially true in settings where environmental or physiologic triggers such as pregnancy or infections may unmask latent pathway vulnerabilities.

Experts noted the challenges faced in India: variability in assay quality, limited availability of specialized laboratories, long turnaround times for genetic panels, and frequent preanalytical errors in complement sampling. Proper sample handling—rapid processing, cold-chain integrity, and avoidance of complement activation ex vivo—was emphasised repeatedly. Several speakers highlighted that complement levels may appear normal even in active disease due to dynamic consumption, reinforcing the primacy of clinical judgement.

Management of Anti–Factor H Antibody–Associated aHUS

A detailed pediatric case underscored the complexity of managing anti–factor H antibody–mediated aHUS, a phenotype more prevalent in South Asian populations. These patients often present with severe renal injury, very high antibody titers, and substantial complement activation. Effective management requires an integrated approach: plasmapheresis to remove circulating antibodies, immunosuppression (often multi-agent) to suppress antibody production, and complement inhibition to arrest endothelial injury.

Relapses, often triggered by infections, highlight the need for vigilant long-term monitoring. Decisions regarding B-cell–targeted therapies such as rituximab, or newer agents, depend on persistence or rebound of antibody titers. Persistent proteinuria despite hematologic remission remains an important marker of chronic complement-mediated damage, warranting longitudinal nephrology follow-up.

Pregnancy-Associated TMA: Recognizing the Complement Continuum

Pregnancy-associated TMA surfaced as an especially challenging scenario. The clinical overlap with preeclampsia, eclampsia, and HELLP syndrome complicates early diagnosis. However, recurrent episodes across pregnancies, early-onset severe hypertension, precipitous renal injury, or poor fetal outcomes may point towards underlying complement dysregulation. Several experts noted that pregnancy can serve as a physiologic stressor that unmask latent complement pathway abnormalities.

The group discussed the role of prophylactic measures such as aspirin and hydroxychloroquine, which may reduce endothelial activation but do not directly modulate complement activity. In cases where complement-mediated TMA is strongly suspected, early complement inhibition may interrupt the cascade of endothelial injury and improve both maternal and renal outcomes.

Long-Term Management, Relapse Monitoring, and Withdrawal Strategies

The webinar also explored long-term management strategies, including when and how to consider withdrawal of complement blockade. Decisions must incorporate genetic background, disease severity, organ involvement, presence of anti–factor H antibodies, and patient-specific risk factors. Close monitoring after withdrawal—through regular labs, blood pressure tracking, and symptom surveillance—is critical, particularly in patients with complement gene variants or history of relapse.

Relapse risk is highest in the first year after withdrawal and in individuals with pathogenic complement variants. Several experts advocated for structured relapse action plans that empower patients and clinicians to recognize early warning signs and reinitiate therapy promptly.

Building a Better aHUS Care Ecosystem in India

The session concluded with a forward-looking examination of systemic barriers in India. Key needs include: expanding access to complement assays and genetic testing; improving diagnostic capacity in regional hospitals; establishing national registries to track epidemiology, mutations, and outcomes; and developing designated Centers of Excellence with multidisciplinary TMA teams. Strengthening referral pathways and ensuring equitable access to complement inhibition remain high priorities for improving outcomes nationwide.

Key Takeaways

• Complement-mediated TMA is frequently misdiagnosed; early clinical suspicion is essential.

• Early C5 inhibition significantly improves renal recovery and reduces long-term morbidity.

• Genetic testing informs prognosis but must not delay therapy.

• Anti–factor H antibody–mediated aHUS requires integrated immunosuppression, plasmapheresis, and complement blockade.

• Pregnancy-associated TMA often reflects unmasked complement dysregulation.

• India needs improved diagnostic infrastructure, national referral pathways, and Centers of Excellence.

• Long-term follow-up and structured relapse plans are essential due to ongoing risk.

Webinar Summary for Patients: Beyond the Illusion: Unravelling the Puzzle of aHUS

A recent webinar hosted by NephroPlus, the Atypical HUS India Foundation and the Kidney Warriors Foundation, with support from AstraZeneca, brought together leading kidney specialists to discuss atypical hemolytic uremic syndrome (aHUS). This rare and serious condition affects the blood and kidneys and can be difficult to diagnose. Experts including Dr. Vivekanand Jha, Dr. Arvind Bagga, Dr. Nicole Isbel, Dr. Aditi Sinha, Dr. Manisha Sahay, Dr. Raja Ramchandran, Dr. Sreebhushan Raju, Dr. Sayali Thakare, Dr. Sandhya Suresh and Dr. Arun shared their experiences and offered clear guidance on how care can be improved in India.

Why aHUS Is So Hard to Diagnose

One of the biggest challenges with aHUS is that its early symptoms look similar to many other illnesses. Patients often arrive with anemia, low platelet counts, and kidney problems — symptoms also seen in infections, blood pressure emergencies, and pregnancy-related complications. Because these conditions are far more common, aHUS is often not recognized right away.

Certain signs should raise suspicion: kidney injury that seems too severe for the illness, low platelet counts that do not improve, very high LDH (a marker of cell damage), and damaged red blood cells on the blood smear. Early testing to rule out other conditions, especially TTP, is essential. Once these are ruled out, doctors can consider aHUS sooner instead of waiting for symptoms to worsen.

Early Treatment Makes a Major Difference

Early treatment with complement-blocking medicines, most commonly eculizumab, can dramatically improve outcomes. These medicines stop the part of the immune system that causes blood vessel damage in aHUS. Patients treated earlier are much more likely to recover kidney function and avoid long-term dialysis.

Once treatment begins, older approaches such as plasma exchange should usually be stopped because they can reduce the effectiveness of these medicines. Severe symptoms such as confusion or seizures suggest rapidly progressing disease and may require quicker treatment decisions. Similarly, if a woman develops blood vessel damage after childbirth and does not improve within a few days, complement-blocking therapy may be needed.

The Role and Limits of Genetic Testing

Genetic testing can help explain why a person developed aHUS and whether they are at higher risk of relapse. However, a negative genetic test does not rule it out. Many patients have normal results but still have strong signs of complement system overactivity.

Access to high-quality testing remains limited in India, and sample handling errors can give misleading results. Doctors emphasized that treatment should be guided mainly by clinical judgement rather than waiting for test results.

Anti–Factor H Antibody–Related aHUS

Some patients, especially children in South Asia, develop aHUS because their immune system produces harmful antibodies against a protein called factor H. This causes sudden and severe kidney problems. These patients usually need plasma exchange to remove the antibodies, immunosuppressive medicines to control them, and complement-blocking therapy to stop further damage.

Viral infections can trigger relapses even after improvement, so long-term monitoring is important. Ongoing protein loss in urine may indicate that the kidneys still have ongoing injury.

Why Pregnancy Can Trigger aHUS

Pregnancy-related aHUS is especially challenging because it closely resembles complications like preeclampsia or HELLP syndrome. Repeated severe issues across pregnancies, sudden kidney failure, or very low platelet counts may indicate underlying complement problems. In such cases, complement-blocking treatment may help prevent permanent kidney injury.

Long-Term Care and Relapse Prevention

Long-term follow-up after an aHUS episode is essential. Some patients may eventually stop complement-blocking therapy, while others may need longer treatment depending on their condition. Relapses can occur, especially within the first year after stopping treatment. Patients and families should be aware of warning signs and know when to seek immediate help.

Strengthening aHUS Care in India

Experts highlighted several areas where care can be improved: expanded awareness among regional hospitals, easier access to complement and genetic testing, national registries to study patterns of disease, and establishing Centers of Excellence to guide diagnosis and treatment. Better referral pathways and faster access to complement-blocking medicines could make a major difference in outcomes for patients across the country.

 

Webinar Recording: Beyond the Illusion: Unravelling the Puzzle of aHUS

A webinar for doctors was held on the 18th November where leading researchers and clinicians from India and Australia spoke on various aspects of the disease. Here is a recording of the webinar:

You can use this link to share as well: https://www.youtube.com/watch?v=NJX65-UPLdg

How you can get access to Soliris (Eculizumab) in India: Government Funding Route

The Government of India has a National Program for Rare Diseases (NPRD) that funds, up to a certain extent, treatment for rare diseases including aHUS. With Soliris (drug name: Eculizumab) now becoming available in India through the company directly, supply should be more reliable. Until now, the drug was available through importers who imported such drugs through unofficial, non-company based channels.

For those who can afford to pay for the drug out-of-pocket, please refer to this post for more details.

This post will outline the steps to take to apply for assistance in procuring the drug through the Government's NPRD.

• Identify the closest Centre of Excellence (CoE) to you. Here is a complete list of CoEs in India
• Visit the CoE campus and meet a senior doctor in the nephrologiy department. You may need to take an appointment by phone or in-person. At the time of enrolment, you will be given a Hospital ID. Keep this handy
• Carry the following with you when you meet the nephrologist:
• ID proof (Aadhaar / PAN / Voter ID) - original and 2 copies - if patient is a minor, also carry ID proof of parent / guardian
• 2 Passport size photographs
• Your medical file that has past prescriptions
• Any hospitalisation discharge summaries
• Current Prescription from the nephrologist treating you
• Recent lab reports - CBP, LDH, Kidney function tests, Urine Analysis etc.
• Genetic Test Reports, if available
• The nephrologist may require some other tests to be done or additional documents may need to be provided. Arrange these as requested by them
• Once all documents are provided, the nephrologist (or their assistant / adminstrator) will enter the details into the NPRD portal. this will include the number of vials, duration of treatment etc. An enrollment number will be generated and given to you. Keep this number safely
• There is a Rare Disease Committee that has been constituted at each CoE. This committee meets periodically and even on emergency basis to review all applications submitted and decides the merits of each application. The committee meets once every 1-3 months (depending on the hospital and the number of cases to review; they may also meet on emergency basis if needed). The committe decides to approve / reject / recomend to modify the application
• Once a decision has been reached, you will be notified of the decision
• Keep in touch with the nephrologist you met about this and any other queries you may have. Sometimes, the nephrologist might put you in touch with another coordinator who would be able to answer any queries you may have
• The committee may request additional documentation including some investigations. Make sure you get these in a timely manner
• Also, if you undergo any doctor consults / investigations after the initial form is submitted, make sure you give this to the doctor / assistant in the CoE to submit in the portal
• Note that approval by the committee might take up to a few months
• Once the application is approved, then the CoE will raise the funding requisition with the government for which you may be asked to sign some consent forms
• Once the funding request is approved, the CoE will procure the drug from the company through their pharmacy
• Once the drug reaches the pharmacy, speak to the nephrologist to discuss the next steps

Please be aware that this is a relatively new process for the CoEs. Even among the CoEs, there are some that are better equipped than others.  Remember, you need to advocate for yourself or your loved one. You will need to keep following up with the relevant stakeholders. Do not expect things to be handed to you on a platter. You will need to push people to help you. Do drop us a line with your experiences and we will do the best we can to help. All the best!

Happy aHUS Awareness Day!

September 24th every year is observed as aHUS Awareness Day. The day was picked because it was around that time that the term "Hemolytic Uremic Syndrome" was first used by Prof Conrad van Gasser in medical literature. The day was decided by the Atypical HUS Alliance, an umbrella group of aHUS patient support groups from various nations. 

This year has been special for aHUS patients in India. After years of hopelessness, we finally have a drug that is approved for sale in India and has been launched in India. Until a year or so back, we would never have imagined this would become a reality. Full credit and much gratitude to AstraZeneca for bringing the drug to India! The aHUS India Foundation has witnessed the team work really hard to make this a reality.

The Government of India also deserves a lot of credit for coming out with a National Policy for Rare Diseases. This is truly a sign of tremendous foresight and consideration for rare disease patients. The aHUS India Foundation commends the Government of India for this step on behalf of all aHUS patients.

We are excited that the times are changing for aHUS patients in India. We hope that drug access will be improved further and challenges in pricing will be overcome. We cannot rest until every aHUS patient in the country has access to a drug that they are able to afford and not have to continue to live a compromised life due to this disease.

Here is a message from the aHUS India Foundation on this occasion:

Changes needed to the National Program for Rare Diseases in India

The Government of India launched the National Program for Rare Diseases (NPRD) a few years back. In its current form, 63 rare diseases (including Atypical HUS) are covered. The program will fund a one time grant of Rs. 50 lakhs to each patient towards treatment. Decisions to fund such treatment will be made by Centres of Excellence (CoE) identified by the government.

Such a policy was unthinkable till a few years back. The debate between spending large sums of money on the treatment of a few people versus spending that money on basic healthcare necessities like preventing infant mortality, basic sanitation and other aspects of primary healthcare which impact several times more people is far from settled. While I may be biased in favour of the former due to my medical history, I do acknowledge that the choice is tricky. I am grateful therefore that the Indian government chose to set up the NPRD which impacts only a few people.

I would still suggest that two changes be made to the NPRD.

One size does not fit all

Currently, irrespective of the disease and the extremely varied types and durations of treatment, the NPRD stipulates the same grant for every patient. While the Rs. 50 lakhs might be more than enough for some, it is woefully inadequate for others. Even within the same rare disease, the requirements could be different. 

Take my disease, aHUS, for instance. Depending on the age of the patient and specific genetic mutation, the dosage and the duration of treatment with Eculizumab (the only approved drug to treat the disease) could vary. Some people would need only two vials twice a month while others could need three to four vials twice a month. Again, some patients may need it lifelong while others could need it only for a few months.

Keeping this reality in mind, the NPRD needs to allocate different funds for different patients. I understand this could make the decision process extremely complex. Who decides, for instance, which patient gets how much money? A group of experts can be constituted for each disease and a framework can be established to guide such decisions. Other solutions can be explored based on the experience of other nations where these problems have been successfully resolved.

Involvement of CoEs

In the current policy, decisions pertaining to applications for assistance under the NPRD are to be taken by CoEs. One can only imagine the delays this would bring about in getting access to the drugs by patients. The process would involve the treating physician getting the history and the clinical summary ready and then getting this information to the appropriate committee in a CoE close by. The authorities who decide on such applications in the CoE would need to then meet and review the dossier submitted. They might have further questions which would need to be communicated to the treating physician and then if everything is clear, they would decide. 

In diseases such aHUS, time is critical. Quick administration of the drug can mean the difference between remission and progression to kidney failure or even death. In such circumstances, does it really make sense to allow so much delay in deciding on the application?

One possible solution could be to not require a committee but one doctor among a panel of doctors in the CoE to decide on the application. The treating physician should be able to request urgent hearing of the case and decisions should be taken in less than 48 hours. Such models have been adopted in other nations already where similar circumstances exist.

The Government of India has shown amazing foresight and consideration for rare disease patients in coming up with the NPRD. If the kinks mentioned above can be ironed out, it would do tremendous benefits to the intended beneficiaries of this policy. 

How you can get access to Soliris (Eculizumab) in India: Self Pay Route

Now that Soliris is available in India, it is important for patients and their families and doctors to know how to get access to the drug. It is obviously not something that you can walk into a pharmacy and buy.

The drug can be accessed on one of two ways:

1. Paying yourself for it
2. Getting it through the Government's National Program for Rare Diseases (NPRD)

You can get more information of the contours of the NPRD and how it works here.

The Atypical HUS India Foundation has consulted the manufacturers of the drug and understood the steps to be taken by patients or their families to get access to the drug.

Cost of the drug for self-paying patients

The drug comes in vials of 300 mg each. Each vial costs about Rs. 95,000-100,000. Adults require about 3-4 vials each time, typically twice a month at steady state. There is a higher dosage required in the first few weeks. The dosage for children is typically lower. Please consult your doctor to determine the right dosage and frequency.

Steps to follow to get access to the drug

• The first step is to speak to your doctor to prescribe the drug on a prescription note along with the history and the tests conducted to make the decision to prescribe. Your doctor will need to ascertain your clinical condition to confirm if the drug is likely to help you. A lot will depend on your current clinical condition including (and not limited to) the following:
• Are you recently diagnosed and you still retain significant kidney function?
• Have you progressed to kidney failure requiring dialysis?
• Are you a candidate for a kidney transplant?
• Do you have willing related donor?
• Are you on the cadaver transplant list?
• Once the prescription is ready, your doctor will need to contact AstraZeneca. The Atypical HUS India Foundation can also help make this connection. Email us at ahusindia@gmail.com.
• The company's medical team will then speak with the doctor directly to understand the clinical background and requirements.
• The AstraZeneca commercial team will then liaise with the doctor / hospital pharmacy and arrange the drug through the appropriate authorized distributor.
• Escalation for urgent support: If you face challenges in accessing the drug, or if the physician is temporarily unavailable, you can write to med.info3@astrazeneca.com with a cc to ahusindia@gmail.com and oshin.santoshi@astrazeneca.com.

We will soon publish steps to access the drug through the second pathway - through the government's NPRD.

How India's National Program for Rare Diseases can help aHUS patients

Here are some important facts to know about the Indian Government's National Program for Rare Diseases (NPRD) can help aHUS patients.

National Program for Rare Diseases

This program, instituted by Ministry of Health and Family Welfare, offers financial help and access to care for rare disease patients. As of August 2024, 63 rare diseases were covered under this program. Atypical Hemolytic Uremic Syndrome (aHUS) is part of this list of diseases.

Three groups of rare diseases are covered by this program:

1. Diseases that can be cured with a one-time treatment
2. Diseases that need lifelong treatment but costs are low
3. Diseases that need lifelong treatment and costs are very high

aHUS comes under the third group.

Support offered by the government

The government will fund up to Rs. 50 lakh per patient for treatment. The government may offer extra flexibility for Group 3 cases like aHUS, based on the patient’s situation. No GST or customs duty will be levied on rare disease drugs imported for treatment.

Centres of Excellence

The government has identified a list of Centres of Excellence (CoE) which would be the nodal agencies to facilitate treatment under this program. Here is a list of the CoEs in different cities in India.

Things to do to avail the support from the government

Patients must speak to their doctors about registering with the NPRD at a Centre of Excellence. This would involve medical evaluation to confirm the diagnosis, some documentation which would included some tests, medical history etc. There is an application form that would need to be filled in. Once that is submitted, then patients would need to wait for the approval to come.

List of Centres of Excellence under NPRD

Here is a list of the Centres of Excellence listed under the National Program for Rare Diseases (NPRD). These centres are authorised to approve any treatment for rare disease patients under the NPRD where a fund of up to Rs. 50 lakhs is granted.

• All India Institute of Medical Sciences, New Delhi
• Maulana Azad Medical College, New Delhi
• Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow
• Post Graduate Institute of Medical Education and Research, Chandigarh
• CDFD with Nizam Institute of Medical Sciences, Hyderabad
• King Edward Memorial Hospital, Mumbai
• Institute of Post-Graduate Medical Education and Research, Kolkata
• Center For Human Genetics (CHG) with Indira Gandhi Hospital, Bengaluru
• All India Institute of Medical Sciences, Jodhpur
• Institute Of Child Health and Hospital for Children, Chennai
• Government Medical College, Thiruvananthapuram
• All India Institute of Medical Sciences, Bhopal

Eculizumab Launched in India

In a long-awaited welcome development, Eculizumab has been formally launched in India. In a press release issued recently, AstraZeneca, the company that acquired Alexion Pharmaceuticals, the manufacturer of the drug (brand name: Soliris) said, "Until now, limited awareness, diagnosis, and access to targeted therapies have contributed to prolonged hospitalisations and increased complications for those affected. The availability of Eculizumab marks a breakthrough in the standard of care."

For aHUS patients in India, this is a tremendous breakthrough in their collective journey. Until now, the drug was either not available or available only by importing it specifically for their use - a very arduous and complicated process.

Hopefully now, that would be a thing of the past. While there is still some lack of clarity on how the drug can be accessed and the cost at which it is available (which the aHUS India Foundation is working closely with the company on getting more information about), at least the delays in importing the drug would not be there.

The aHUS India Foundation strongly urges patients to speak to their doctors on their treatment plans and how they would change with the availability of the drug.

The Foundation also urges doctors with aHUS patients to be aware that the drug is now available and to please reach out to the company or us (ahusindia@gmail.com) and get access to the drug for your patients.

We, at the aHUS India Foundation are grateful to the company and the regulatory authorities for their efforts in making the drug available in India.

aHUS India - Patient Journeys

Often beyond all the news and information, real patient journeys get hidden. These journeys are however the real story. Individual stories of pain, suffering and yes - even in the midst of all the despair - hope. We, at the Atypical HUS India Foundation are bringing to you such stories where patients have fought back to take control of their lives.

In the first such story, we bring to you a young male from Mumbai who was diagnosed with this disease out of the blue, with no prior warning. This diagnosis turned his life upside down. And yet, he continues fighting, even today in the hope that one day he will get access to a complement inhibitor which will enable him to lead a normal life.

aHUS Simplified - Webinar Summary

Here is a summary of what was discussed in the webinar we held on 30 June:

Dr. Arvind Bagga (Pediatric Nephrologist, Indraprastha Apollo & Professor Emeritus, AIIMS Delhi)

Presented a foundational explanation of the immune system and its two parts – innate and adaptive immunity.

Focused on the complement system, especially the alternative pathway which is rapidly activated and can become overactive in aHUS.

Explained how regulatory proteins (Factor H, Factor I, CD46) function as brakes on the complement system; their failure leads to uncontrolled immune activation and damage to the body’s own tissues.

Outlined that aHUS leads to microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury – hallmark features of thrombotic microangiopathy (TMA).

Described diagnostic process, stressing it is largely one of exclusion, and explained the limited utility of low C3 as a consistent diagnostic marker.

Detailed genetic causes (autosomal recessive or dominant mutations in Factor H, I, CD46, C3, DGKE) and role of Factor H autoantibodies in Indian children.

Reiterated that plasma exchange is particularly useful in anti-Factor H autoantibody cases, but not a substitute for complement inhibitors like Eculizumab.

Urged greater awareness among pediatricians and hematologists for early diagnosis and referral.

Dr. Valentine Lobo (Senior Nephrologist, KEM Hospital, Pune)

Highlighted the evolving nomenclature, noting that 'aHUS' is now better classified under complement-mediated thrombotic microangiopathies (TMAs).

Shared his extensive clinical experience in adults: common triggers include pregnancy (40% of his cohort), snake bites (16%), transplants, drugs, and autoimmune diseases.

Discussed difficulty in distinguishing primary (genetic/autoimmune) vs secondary aHUS (triggered by known factors). Emphasized that genetic testing is not always required for secondary aHUS.

Provided criteria for diagnosis in adults – anemia, thrombocytopenia, acute kidney injury – and how it's often missed due to overlapping symptoms with more common illnesses.

Outlined findings from his cohort of 121 patients over 12–15 years and the role of biopsy in complex cases (e.g., post-transplant or late presentation).

Warned against unregulated dosing once complement inhibitors become available, emphasizing the importance of making an accurate diagnosis first.

Described current and past clinical trials in India (Crolimab, Iptacopan), with India contributing significantly due to high patient volumes.

Stressed the urgent need for reference labs for anti-Factor H testing, genetic interpretation expertise, and establishment of structured treatment pathways at COEs.

Shiv (Patient Speaker)

Shared a deeply personal account of living with aHUS: first symptoms appeared at age 22 with hematuria, jaundice, and high BP; was quickly placed on dialysis.

Received plasma exchange but sustained irreversible kidney damage; underwent 11 months of dialysis before kidneys partially recovered (~40% function).

Maintained partial function from 2014–2024, after which kidney function again declined and he resumed dialysis.

Only recently diagnosed with a CFI mutation after undergoing genetic testing, unavailable during his initial episode.

Highlighted emotional toll, work-life challenges, and physical exhaustion from dialysis, but also stressed importance of family support and community.

Encouraged others to explore India’s National Rare Disease Policy and register under the scheme through COEs to gain access to future therapies.

Expressed hope for access to eculizumab or ravulizumab in India, required before his planned kidney transplant.

Audience Q&A (with Drs. Bagga & Lobo)

Recurrent disease post-transplant is likely due to a pathogenic complement mutation – full genetic workup recommended (gene sequencing, CNV, haplotype, and therapy prediction).

Plasma exchange is superior to plasma infusion in acute settings due to higher volume clearance of antibodies and regulators.

Withdrawal of eculizumab therapy has been studied: low relapse rates in patients with no detected mutation, but higher in those with pathogenic mutations.

Typical vs Atypical HUS vs TTP: History of diarrhea suggests typical HUS (Shiga toxin); low platelets with less severe kidney failure points to TTP; aHUS is a diagnosis of exclusion.

Doctors called for co-specialty awareness (hematologists, internists) to avoid misdiagnosis and delays in therapy.

Announced development of a point-of-care test (similar to a pregnancy test) for anti-Factor H antibodies in collaboration with Spanish researchers and Indian labs (THSTI, ICMR).

Stressed need for strong guidelines to ensure correct dosing and avoid cost-driven under-treatment once drugs are introduced.

Kamal Shah (Moderator & Host; Founder, aHUS India Foundation)

Introduced the webinar as the first of its kind in India for aHUS patients, highlighting the historical lack of access to treatment.

Expressed hope due to recent advancements and encouraged patients to engage by registering with the foundation, sharing their stories, and subscribing to the newsletter.

Explained that aHUS was previously seen as a double misfortune – genetic and geographic – but now there's hope with new treatments becoming available in India.

Described the Indian government's National Policy for Rare Diseases, which offers financial support of up to ₹50 lakh for patients under Category 3 (treatable but high-cost diseases like aHUS).

Detailed the need for patients to register with designated Centers of Excellence (COEs) through their doctors to access this scheme.

Listed 12 COEs and provided the foundation’s website (www.hus.in) for further information.

International Guests Acknowledged

Linda Burke (USA), Jeff Schmidt (USA), and Margriet Eygenraam (Canada) who had joined the webinar from various parts of the world were acknowledged for their contributions to the global aHUS community. 

Recognized for their leadership and continued support to Indian patients through international collaboration and awareness.

Closing Remarks

Kamal Shah reiterated key calls to action: register with the aHUS India Foundation, subscribe to the newsletter, and submit patient stories.

Appreciated the participation of all speakers and attendees and promised to conduct more such webinars.

Thanked AstraZeneca for supporting the event, and the Kidney Warriors Foundation for its consistent partnership.

Webinar Recording: aHUS Simplified for Patients

We had an overwhelming response for the first aHUS webinar we held on Monday 30 June. For those who missed it and wish to watch it or if you would like to share it with someone you know, here is the recording:

You can use this link to share it as well:  https://youtu.be/C6oY0E9OMN4

Our first webinar for aHUS Patients!

The Atypical HUS India Foundation is hosting its first webinar. This event is for aHUS patients and their families, aiming to simplify the complex disease. There will be sessions for both adult and child patients, as well as their families. Anyone interested in learning about the disease can join too. The event is being done in collaboration with NephroPlus, Asia's largest dialysis provider, Kidney Warriors Foundation, India's leading kidney patient support group and AstraZeneca.

We are excited to have two top nephrologists, Dr. Arvind Bagga from Delhi and Dr. Valentine Lobo from Pune. Both have done significant work on aHUS and are very passionate about it. We will also have a patient who will recount his journey with this disease.

The webinar will be online on Zoom on Monday, June 30th at 4:30 pm. Please mark your calendars and use this link to register.

Share your aHUS story

Tell the world your story! The Atypical HUS India Foundation invites patients and their family to record short videos about their story - how did you know you had aHUS? What did you do soon after? What is your current status? What frustrates you about our situation? Share your videos with us by tagging us on social media or sending us an email.

The importance of a database of aHUS patients in India

If you ask someone what is the number of aHUS patients in India, the only answer you will get are 'guesstimates'. No data exists on the number of aHUS patients in India. Given estimates of the global prevalence of this disease of 2-3 per million people, one can assume that there could be between 2000-3000 patients. That is a huge number.

The trouble with this disease is that is so rare that most doctors rarely see aHUS patients. And surprisingly, while research shows more adults are diagnosed than children, most doctors think of this as a pediatric disease. In India, probably, there are more children diagnosed with aHUS than adults simply because of more awareness of this disease among pediatricians and pediatric nephrologists.

The aHUS India Foundation is now launching a registration for aHUS patients in India. All you need to do is to fill this form and you will be added to the aHUS database. The database is completely confidential and the data in it will not be shared with anyone - including doctors, researchers, pharmaceutical companies, the government etc. No one will have access to your information. No one can identify you after you've filled in this form.

Without your help, however, we will not be able to build this database. Without this database, we cannot lobby with the government to improve access to treatment for aHUS patients. Without this database, we cannot have discussions with pharmaceutical companies on the number of aHUS patients in India which is important for them to bring their drugs to India.

So, please take a minute to fill out the form. It takes less than 2 minutes and many of the questions are optional. Also share this with any other patients you might know. Share this with your doctor and request them to ask their aHUS patients to fill it out.

Here's the link to share with anyone:

https://forms.gle/yBMqTanwwW4e34GD6

Thanks so much for your support!

Soliris gets approval for sale in India

Soliris (brand name for the drug Eculizumab from Alexion Pharmaceuticals, now acquired by Astra Zeneca) was finally approved by the Indian drug control body, Central Drugs Standard Control Organization (CDSCO) yesterday.

The drug was advised for approval by the Experts Committee in May last year. The approval finally came yesterday. This is very welcome news for patients afflicted by life-changing diseases such as Atypical Hemolytic Uremic Syndrome (aHUS).

This clears the way for Astra Zeneca to start marketing and selling the drug in the country.

What remains to be seen though - and this is critical for a country like India - is what the drug will be priced at by the company. This is what will dictate if anything at all changes for aHUS patients. If the drug is priced even close to what it is priced at in developed countries, this approval does not mean anything at all. At least for most aHUS patients.

A lot of the discussion around this drug often centres around patients who need it short term. While there are patients who need it short term - some cancer patients, patients with certain conditions and even some aHUS patients with a certain set of mutations - the vast majority of aHUS patients are affected by mutations like those in the Complement Factor H (CFH). These patients would need the drug long term, potentially life long.

The Indian Government's Rare Disease Program provides a grant of Rupees Fifty Lakh (5 million) to rare disease patients which, at the current rates in developed countries, will barely fund the drug for a few months. What happens after that?

So, while aHUS patients in India do have a reason to cheer news of this approval, we cannot start celebrating yet. News on pricing of this drug is the next most critical aspect that we now await.