India has had its first patient conference. A summary of what was covered has been posted on line and reposted below.
Its clear and concise style makes it easy to find out much of what is needed to be known by aHUS patients anywhere.
Very worth the few minutes read.
“Thursday, July 3, 2025
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.
Posted by Kamal D Shah at 1:10 PM
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A first aHUS patent meeting like this is important beyond what is said at it.
The author recalls the first UK aHUS patients meeting. Potentially at that time there were more than 150 patient families in the UK. About 30 of those patient families (20%) attended the meeting. (only five families went on to create a patient group to lobby for eculizumab treatment).
In India there are possibly around 2500 surviving aHUS patients. Just 1% of those may have attended the webinar.
So in numbers terms that is enough to build a patient organisation to advocate for their country’s aHUS patients , particularly as a formal organisation already exists aHUS India Foundation. It has a global experienced leader.
The potential for Indian aHUS patients to support each other and help with the drive for effective aHUS treatment when needed for as long as is needed for all in India. It will be challenging.
Now in the aftermath of their conference is the time to do it. The word needs to spread by doctors of aHUS patients.
Article No. 740
