Kidney transplant between mother and son with HAE succeeds: Case report
No swelling attacks occurred during, immediately after surgery
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A 19-year-old adolescent with hereditary angioedema (HAE) successfully received a kidney transplant from his mother, who also had HAE, without experiencing a swelling attack either during or immediately after surgery, according to a case report in Argentina.
Both received preventive treatment before and after the procedure and fresh frozen plasma shortly before their breathing tubes were removed. The rescue therapy Firazyr (icatibant) was available in case angioedema developed.
“This report demonstrates that living-donor kidney transplantation between two individuals affected by HAE can be performed safely with individualized prophylaxis [preventive therapy] and multidisciplinary coordination,” researchers wrote.
The report, “Living-Donor Kidney Transplantation Between Mother and Son With Clinically Confirmed Hereditary Angioedema,” was published in the journal Pediatric Transplantation.
Surgery presents number of risks for HAE patients
HAE is a rare genetic disorder marked by recurrent swelling in the skin, digestive tract, and airways. HAE type 1, the most common type of HAE, is caused by mutations in the SERPING1 gene that result in low levels of C1 inhibitor (C1-INH). This protein normally helps regulate production of bradykinin, a signaling molecule that increases blood vessel permeability. Excess bradykinin allows fluid to leak into surrounding tissues, causing swelling.
Surgery presents particular risks for people with HAE because physical trauma, emotional stress, anesthesia, and airway manipulation during the placement or removal of a breathing tube can trigger an attack.
Although liver transplantation in people with HAE has been reported, outcomes following kidney transplantation in people with HAE have rarely been described. Evidence is especially limited when both the donor and recipient have the disease.
In their case report, researchers in Argentina described a living-donor kidney transplant involving a mother and her son, age 19, both of whom had HAE type 1.
The son had experienced recurrent abdominal pain and angioedema attacks since childhood. He was also born with structural abnormalities affecting his kidneys and urinary tract, including an obstruction that required several surgeries and the removal of his left kidney.
His remaining kidney gradually lost function, and by early 2024, he had advanced chronic kidney disease. His mother was selected as the donor because she was compatible, had a favorable tissue match, and there were no other suitable living donors available.
Surgery plan developed by multidisciplinary team
Both the mother and son were diagnosed with HAE type 1 based on recurrent attacks, a family history of the disease, and markedly reduced C1-INH levels and activity. Genetic testing was not performed because their clinical features and blood-test results met established diagnostic criteria.
A multidisciplinary team involving kidney specialists, transplant surgeons, allergists, anesthesiologists, critical-care physicians, psychologists, and nurses developed a plan to minimize the risk of attacks.
International guidelines recommend into-the-vein plasma-derived C1-INH concentrate as the preferred preventive treatment before procedures likely to trigger an HAE attack. However, the therapy was not available through the patients’ insurance.
Fresh frozen plasma, which contains C1-INH, is considered a second-line option when C1-INH concentrate is unavailable. However, it carries risks, including the transmission of infection, allergic reactions, and the development of antibodies against the transfused material.
Mother and son received 2 mg of Winstrol (stanozolol) daily. Treatment began five days before surgery and continued for five days afterward. Winstrol, now discontinued in the U.S., was a lab-made anabolic steroid approved to help prevent HAE attacks and reduce their frequency and severity.
This case demonstrates that living- donor kidney transplantation between individuals with HAE is feasible when managed with structured, multidisciplinary protocols, even in resource-constrained settings where C1- INH concentrate is unavailable.
Immediately before their breathing tubes were removed, both received fresh frozen plasma at a dose of 10 mL per kilogram of body weight to temporarily raise C1-INH levels. Firazyr was kept available for emergency use.
The transplant was completed without complications. Neither the mother nor her son developed angioedema during or immediately after the procedure, and rescue treatment was not required.
The son was discharged after 10 days with good kidney function. A temporary decline several months later was linked to high levels of tacrolimus, an anti-rejection medication. A biopsy found acute tubular necrosis, or injury to the kidney’s tubules, but no rejection. After his medication was adjusted, his kidney function returned to normal.
The transplanted kidney continued to function well over 10 months of follow-up. The mother also recovered without complications and had stable kidney function for over a year.
The researchers noted that both patients had relatively well-controlled HAE and no recent severe attacks involving the throat, which may have contributed to the favorable outcome. The son continued to experience occasional attacks after transplantation that required rescue treatment with Firazyr.
Overall, “this case demonstrates that living-donor kidney transplantation between individuals with HAE is feasible when managed with structured, multidisciplinary protocols, even in resource-constrained settings where C1-INH concentrate is unavailable,” the researchers concluded.
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