Ahmedabad Boy Diagnosed With Ultra-Rare Disease; Only One Costly Drug Can Help

Last Updated:July 18, 2025, 18:29 IST

CHAPLE Syndrome symptoms in children include chronic diarrhoea, vomiting, fatigue, slow growth, frequent illness, stomach swelling, and protein deficiency-related edema

Although CHAPLE Syndrome is not fatal, it can lead to serious complications if not treated in time. (Representative/Shutterstock)

A rare case of CHAPLE Syndrome, among the world’s rarest genetic disorders, has been reported in Gujarat, where a seven-year-old child from Ahmedabad has been diagnosed with the condition. With fewer than 100 known cases worldwide, the diagnosis has drawn attention from the medical community. The child is currently undergoing treatment under the supervision of a paediatrician in the city.

CHAPLE Syndrome, fully known as CD55 Deficiency with Hyper Activation of Complement, Angiopathic Thrombosis and Protein-Losing Enteropathy, is a genetic disorder caused by a malfunction in the CD55 gene. This gene is responsible for producing a protein that protects cells from damage. When a mutation occurs, the body loses protein rapidly, leading to severe digestive problems that can become critical if not treated promptly.

What Are The Symptoms Of CHAPLE Syndrome?

Symptoms of CHAPLE Syndrome in affected children typically include persistent diarrhoea and vomiting, swelling and heaviness in the stomach, frequent illness and fatigue, slow body growth, and swelling due to protein deficiency. The child in Gujarat had exhibited these symptoms since the age of four. After extensive investigations, doctors conducted a genetic test that confirmed the diagnosis.

How Is This Disease Treated?

Treatment for CHAPLE Syndrome is limited and costly, currently relying on a single medicine called Pozelimab, a human monoclonal antibody. This medicine is administered through weekly injections over a course of 24 weeks. Only one company manufactures this medicine, and it is extremely expensive. The doctors in Gujarat had to consult experts in Turkey, who maintain the global database of CHAPLE Syndrome cases, to procure the medication.

Can CHAPLE Syndrome Be Cured?

Although CHAPLE Syndrome is not fatal, it can lead to serious complications if not treated in time. While the genetic nature of the disease means it cannot be completely cured, it can be managed with medication, proper diet, and lifestyle changes. CHAPLE syndrome is an extremely rare disease, with limited public awareness. The first reported case in Gujarat has opened a new path of awareness for both doctors and the public.

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