Under-diagnosed, unheard of

Some years ago, doctors at a private hospital in the city came across an unusual case.

Four babies of a couple from Chennai died, one after the other, after a BCG vaccine shot. When the parents came to the hospital, it was with their fifth child, who was extremely sick after the vaccine.

“We found the child had a primary immune deficiency disorder (PID) and so, the body could not accept a live vaccine such as BCG. We did a bone marrow transplant from the father, and the child is now fine. Had there been more awareness about this condition, the other babies would not have died,” said Revathi Raj, paediatric haematologist at Apollo Hospitals.

In an effort to increase awareness about these disorders, the Foundation for Primary Immunodeficiency Diseases (FPID), in collaboration with the Indian Society for Primary Immune Deficiency Diseases (ISPID), held a workshop in the city recently, for medical practitioners.

A heterogeneous group of inherited disorders that affect different components of the immune system, PIDs are vastly under-diagnosed, experts at the workshop said. The infections can affect any part of the body — lung, brain or gastrointestinal organs.

“Severe, life-threatening infections that are recurrent and do not respond well to antibiotics, and unusual infections, are some of the signs of PIDs. Usually, children are diagnosed with PIDs as they are born with defective genes. But less severe disorders can go undiagnosed for as long as 20 years,” said Sudhir Gupta, chief of immunology, University of California, Irvine.

Early diagnosis is crucial, as it can lead to much better outcomes. Diagnosis involves a blood test, in which various parameters are tested. Prenatal testing too is available.

Since the condition is inherited, the disorders are more common in families with consanguineous marriages. Susceptibility to common diseases such as tuberculosis could also be a sign of a PID, said Dr. Raj.

Treatment includes stem cell transplants, gene therapy and intravenous immunoglobulin therapy.

“Treatment for PIDs is very expensive. The intravenous immunoglobulin therapy, for instance, needs to be done every four weeks and each injection costs Rs. 15,000. As a child grows, so does the dosage and the cost. All of these drugs are imported. The government has to be sensitised to realise these are essential medicines and have to be given at reasonable prices,” said Biman Saikia of the Postgraduate Institute of Medical Education and Research in Chandigarh.

The need of the hour, however, was to increase awareness, said Dr. Saikia.

“PIDs contribute to our infant mortality rate. Our physicians do not know how to diagnose them and think they are very rare. FPID is now helping us conduct introductory courses on PIDs across the country,” he said.

What are PIDs?

> Primary immune deficiency disorders (PIDs) are genetic disorders that are estimated to affect one in about 50,000 people worldwide.

> While there are no official figures for India, it is estimated that about 1 million people could be affected.

> PIDs occur when the genes associated with various functions of the components of the immune system are defective.

> There are over 200 types of PIDs.

Source: Sudhir Gupta, chief of immunology, University of California, Irvine

10 warning signs of PIDs

> Four or more new ear infections within a year

> Two or more serious sinus infections within a year

> Two or more months on antibiotics with little effect

> Two or more pneumonias within a year

> Failure of an infant to gain weight or grow normally

> Recurrent, deep skin or organ abscesses

> Persistent thrush in mouth or fungal infection on skin

> Need for intravenous antibiotics to clear infections

> Two or more deep-seated infections, including septicemia

> A family history of PIDs

Source: Jeffrey Modell Foundation

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Printable version | May 8, 2021 11:17:51 PM |

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