04133 Paternal split-liver transplantation followed by haploidentical hematopoietic cell transplantation in an adult patient with protoporphyria-induced liver failure

defect in the genes that encode porphobilinogen deaminase, protoporphyrinogen oxidase or coproporphyrinogen oxidase, respectively.Clinical expression typically occurs after puberty; environmental and other factors as fasting, drugs, alcohol, steroid hormones are potentially triggers of acute attacks.These attacks often begin with abdominal pain followed by the development of peripheral neuropathy and central nervous system manifestations.During 2021-2023, eleven women between 25 and 50 years old developed attacks of AIP, another woman developed VP and a man developed HCP.All patients were treated with Normosang (3-4mg/kg for four days).In AIP group, five patients received only one treatment, five received two and one patient received Hemin treatment in three occasions.For nine patients, Hemin was used during the first attack, at the date of diagnosis; eight of them were the first case in their families.Genetic study of the HMBS gene (NM_000190.4,LRG_1076), revealed that four of these patients carried the most prevalent variant in Argentina, c.331G>C (p.Gly111Arg).Each of the other patients presented different variants: c.849G>A (p.Trp283Ter), c.145delp.(Leu49Cysfs*49), IVS8-1G>T (c.423-1G>T), c.913-1G>A (p.?, causing deletion of exon 15), c.517C>T (p.Arg173Trp), c.652-2A>G (p.?, causing deletion of exon 12).The VP patient developed her first attack at 32 years old and was the first member of her family.The HCP patient triggered his first attack at 39 years old, being also the first in his family.In these two cases, as well as in two of the AIP patients, Hemin treatment was administered more than one month after the onset of the attack due to the delay in the diagnosis, as clinicians did not initially consider Porphyria.These cases required more time for remission.Currently, all patients are in recovery, maintaining an adequate diet and receiving prescriptions for folic acid, vitamin B and glucose.Although it is recommended that Hemin must be administrated within the first fifteen days of the acute attack, our experience suggests that Hemin treatment can still be effective even when is administered later.