Product information and disease description Place of product in therapy Disease description

Natural history, survival, and mortality

6 evidence topics · 6 sources

Age at symptom onset and lifelong persistence of photosensitivity

“Onset of photosensitivity is typically in infancy or childhood (with the first exposure to sun) and the photosensitivity remains for life.” (opens the source at this quote in a new tab)

“Patients’ mean (SD) age at symptom onset was 4.4 (4.4) years.” (opens the source at this quote in a new tab)

Frequency of hepatic dysfunction and progression to liver failure

“Hepatic dysfunction; may occur in 20%-30% of individuals (~2%-5% have severe liver disease that may be life threatening, necessitating liver transplantation.)” (opens the source at this quote in a new tab)
“However, up to 5% of affected individuals may develop more advanced liver disease, most notably cholestatic liver failure.” (opens the source at this quote in a new tab)

“About 2–5% of patients develop clinically significant liver dysfunction due to protoporphyrin deposition in bile and/or hepatocytes which can advance to cholestatic liver failure requiring transplantation.” (opens the source at this quote in a new tab)

Life expectancy outside advanced liver disease

“An unknown proportion of individuals with XLP develop liver disease. Except for those with advanced liver disease, life expectancy is not reduced.” (opens the source at this quote in a new tab)

Transplantation, mortality, and cause of death in the United States longitudinal study

“In total, 54 (16.8%) underwent cholecystectomy, 8 (2.5%) had a liver transplant, 4 (1.2%) had a bone marrow transplant, and 8 (2.5%) died.” (opens the source at this quote in a new tab)
“Eight (6 with EPP and 2 men with XLP) patients died; 4 due to liver failure, 2 (both with EPP) from complications related to BMT, and 1 due to HCC” (opens the source at this quote in a new tab)
“Of the total, 3.4% of enrolled patients had histologic evidence of protoporphyric hepatopathy and 2.5% required liver transplantation.” (opens the source at this quote in a new tab)
“Notably, at least 50% of the deaths that occurred in this cohort were attributable to liver involvement by these protoporphyrias.” (opens the source at this quote in a new tab)

Advanced hepatopathy by diagnosis

“A higher proportion of patients with XLP (1 male, 2 females) had advanced hepatopathy (3/27, 11.1%) compared with patients with EPP (8/294, 2.7%).” (opens the source at this quote in a new tab)
“Protoporphyric hepatopathy is rarely recognized at an early stage, and much of its natural history remains poorly understood.” (opens the source at this quote in a new tab)

Liver transplantation is not curative

“Liver transplantation can be lifesaving but is not curative and may be followed by allogeneic hematopoietic stem cell transplantation, which restores marrow FECH activity to ameliorate injury to the transplanted liver.” (opens the source at this quote in a new tab)

“However, the incidence of recurrent cholestatic liver disease in transplant recipients is substantial, reaching 65%.” (opens the source at this quote in a new tab)