CHAPLE syndrome, according to the doctors is a very rare condition with only about 100 cases being reported so far worldwide.
| Photo Credit: Artivity
Two children – a seven-year-old girl and a 15-year-old boy – diagnosed with rare autoimmune diseases got a new lease of life following timely intervention by doctors in separate private hospitals in the city.
The girl, who was admitted to Aster CMI Hospital with alarming breathlessness and significant pallor, was diagnosed with Wegener’s Granulomatosis (now known as Granulomatosis with Polyangiitis or GPA), a rare autoimmune condition that causes spontaneous bleeding in the lungs, leading to acute respiratory failure.
On ECMO
Due to the severity of her condition, doctors put her on ECMO (Extracorporeal membrane oxygenation), a form of life support for those with life-threatening illnesses or injuries that affect the functioning of their heart or lungs. Despite the complexities of ECMO, particularly for a seven-year-old child, doctors with the parents’ consent, deemed it necessary to stabilise her heart and lung function. “ECMO was our best option to support her vital functions and give her a fighting chance,” said Arun V., Lead Consultant for ECMO.
As the treatment progressed, complications arose due to prolonged ventilation, which included severe sepsis and the need for tracheostomy care. The Medical ICU team managed the pulmonary hemorrhage, acute ventilatory crisis, and kidney injury that were part of the illness, to keep the child stable. To address the underlying autoimmune disease, the child was started on immunomodulation and plasmapheresis, which helped in controlling the disease progression.
Over two months, including 17 days on ECMO, the child’s condition improved, and she was discharged last month, said Karthik Arigela, Consultant in Pediatrics and Paediatric ICU.
CHAPLE syndrome
In another case, a 15-year-old boy found hope with a life-changing treatment for his rare disease at Rainbow Children’s Hospital. The boy battled recurrent diarrhoea and blood in the stools since the age of nine months. After years of hospital visits and extensive testing, he was finally diagnosed with a rare immune disorder called CHAPLE syndrome. The diagnosis was through genetic testing when he was 14.
CHAPLE syndrome (Complement Hyperactivation, Angiopathic thrombosis, and Protein-Losing Enteropathy), a chronic and life-threatening disorder, involves dysregulation of the immune system, leading to symptoms such as recurrent diarrhea, blood in the stools, bowel inflammation, malabsorption, anemia, loss of protein in stools leading to swelling of the body, frequent infections and a tendency for easy clotting of blood.
Doctors said it is a very rare condition with only about 100 cases being reported so far worldwide. The condition can only be managed effectively with a specific medication called pozelimab, which inhibits a component of the immune system responsible for severe symptoms. However, the drug is not available in India.
Help from Turkey
Chandrika S. Bhat, Pediatric Rheumatology and Immunology consultant at the hospital in Marathahalli, reached out to Ahmet Ozen in Turkey, a leading expert with the largest cohort of CHAPLE syndrome patients. Under Dr. Ozen’s guidance, Dr. Bhat and her team coordinated with Regeneron, the pharmaceutical company in the USA that manufactures pozelimab. Following months of email exchanges and approval process, they were able to secure the life-saving drug on a compassionate basis.
The treatment, valued at approximately ₹1 crore for 24 vials, was provided at no cost. Since receiving pozelimab, the boy has been able to discontinue biologics and steroid therapy which previously had caused side effects. He is now free of his debilitating symptoms and regular hospital admissions, say doctors.
Published – December 25, 2024 08:50 pm IST