Patient with rare genetic disorder treated with complex surgery

CHENNAI: Rare genetic disorders have been a challenge in the healthcare industry, but specialised surgeries have offered hope to many.

Recently, a 35-year-old man underwent a rarest-of-rare combined surgery including a live-liver donor transplant and artificial large blood vessel reconstruction at a private hospital in the city recently.

The patient was suffering from Paroxysmal Nocturnal Hemoglobinuria (PNH), which is a recurrent propensity for clotting and lysis of blood, and Budd-chiari syndrome (BCS) — a disorder characterised by obstruction of hepatic venous outflow that led to end stage liver failure.

Doctors at the Institute of Liver Diseases and Transplant, MGM Healthcare, analysed the complexities involved and recommended a multidisciplinary approach.

The team, led by liver transplant surgeons Dr Thiagarajan Srinivasan, and Dr Karthik Mathivanan, and hepatologists devised a unique treatment protocol that included a combination of a transplant and removal of clots from the blood vessels reaching the heart.

“The patient needed a liver transplant with replacement of inferior vena cava. It was the only life-saving option, though it posed very high chances of recurrent clotting of blood vessels,” said Dr Karthik.

Explaining the treatment procedure, Dr Thiagarajan said that the patient’s brother donated a part of his liver after ascertaining the absence of genetic disease. “Before and after surgery, the patient underwent multiple courses of monoclonal antibody therapy to prevent clotting and haemolysis. A combined living donor liver transplant with replacement of the inferior vena cava with a synthetic polyester graft was done to replace body tissues,” he added.

It has been four months since the procedure and the patient is doing well. “Doctors are now planning a bone marrow transplant to cure his genetic illness. This is the first time in the country such a complex course of treatment with liver transplant has happened for such a complicated rare genetic disorder with liver failure,” said Dr Karthik.