A man with erythropoietic protoporphyria (EPP) and severe liver disease successfully underwent a rare, live-donor liver transplant with his wife as the donor of a portion of the organ, according to a recent case report.
Special precautions, including light protection and medication adjustments, were taken due to the man’s EPP. He continued to have good liver function three years after the transplant.
“Living-donor liver transplantation for EPP can be safely performed with careful preoperative preparation,” the researchers wrote in the case report “Living-Donor Liver Transplantation for Erythropoietic Protoporphyria: A Case Report and Literature Review,” published in The Tohoku Journal of Experimental Medicine.
Living donor transplants rare for people with erythropoietic protoporphyria
In all types of porphyria, the production of heme — the molecule that helps transport oxygen through the body — is disrupted, leading to the toxic accumulation of intermediate molecules called porphyrins.
In EPP, mutations in the FECH gene causes protoporphyrin molecules to accumulate in red blood cells, the skin, and the liver. The disease’s hallmark symptom is extreme sensitivity to sunlight and some types of artificial light, but patients also can experience liver damage.
Liver injury rarely progresses to cirrhosis, where the liver is scarred and permanently damaged, which can cause liver failure. But once this stage of liver disease is reached, the only treatment option is a liver transplant.
About 60 cases of a liver transplant in EPP patients have been reported, and in nearly all of them, the transplanted liver came from a person who died.
However, the liver has regenerative properties. That means that a portion of the liver can be taken from a healthy person and given to someone in need. The donor’s liver will regrow and return to normal, and the transplanted organ also will grow, allowing better liver function in the recipient.
Scientists at Tohoku University Graduate School of Medicine, in Japan, described a rare liver transplant case for EPP where the organ came from a living donor.
The patient, a 52-year-old man, had mild light sensitivity and had been experiencing liver problems since age 37. Further evaluations led to the confirmation of an EPP diagnosis at age 48, after which his liver’s health rapidly deteriorated.
A surgery under normal lights to remove the man’s gallbladder before his disease diagnosis “may have been one of the causes of worsening liver function,” the team wrote.
His 48-year-old wife was able to serve as the liver donor.
Special steps taken to protect man’s skin and organs, ensure best outcomes
A number of steps were taken before the surgery to protect the patient. Because of his light sensitivity, all light sources in the operating room and intensive care unit were covered with a film that blocks wavelengths harmful in EPP, risking damage to the skin and abdominal cavity.
Light-associated damage also was reduced “to the greatest extent possible by formulating a traffic line for patient transport and a manual for outpatient visits in advance to ensure a favorable surgical course,” the researchers wrote.
Health professionals involved in the man’s care were given an educational lecture about EPP treatment before the transplant. Doctors also worked with a pharmacist to ensure the availability of necessary medications that were safe for use, as certain standard transplant medications can exacerbate EPP symptoms.
The surgery took about 13 hours, and there were no skin or abdominal cavity burns. He was given a number of different immunosuppressive therapies to prevent an immune reaction against the transplanted liver.
After surgery, the man required long-term mechanical ventilation due to the development of phrenic nerve palsy, or paralysis of a nerve involved in breathing. This complication eventually resolved on its own.
The transplanted liver was working favorably, and the man was discharged from the hospital about 1.5 months after surgery. No skin disorders or liver dysfunction due to EPP occurred. Three years later, he was reported to have good liver function.
The scientists noted that a liver transplant is not curative for EPP, as the transplanted liver can continue to be damaged by the body’s production of protoporphyrins.
“The definitive treatment for EPP is bone marrow transplantation,” the team wrote. But it’s generally only recommended for very severe cases where damage to the new liver cannot be controlled by other therapies.
“Therefore, it is necessary to continue the light-shielding treatment as much as possible in order to preserve liver function after liver transplantation,” the scientists added.
Four cases of a living-donor transplant in EPP have been reported, according to the scientists. Having a living donor poses additional surgical challenges, including a smaller transplanted tissue than is usual and considerations for the safety of the donor.
But once a willing donor is identified, the surgery is elective. Patients do not have to wait on a transplant list to receive the organ.
“In rare diseases such as EPP, which require careful preparations, living-donor liver transplantation could be a useful option because of the above-mentioned advantages,” the researchers wrote.