Erythropoietic protoporphyria in an adult with sequential liver and hematopoietic stem cell transplantation: A case report

Windon, Annika; Tondon, Rashmi; Singh, Nathan; Abu‐Gazala, Samir; Porter, David L.; Russell, Janice; Cook, Colleen M.; Lander, Elaine; Smith, Georgeine; Olthoff, Kim M.; Shaked, Abraham; Hoteit, Maarouf; Furth, Emma E.; Serper, Marina

doi:10.1111/ajt.14581

Cited by 21 publications

(26 citation statements)

References 11 publications

(24 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The results of only a handful of AlloSCT for EPP have been published: 2 in the pediatric population and 2 in the adult population . In the pediatric literature, there are 2 reported cases of sequential OLT and AlloSCT.…”

Section: Discussionmentioning

confidence: 99%

Management of Patients With Erythropoietic Protoporphyria–Related Progressive Liver Disease

et al. 2019

View full text Add to dashboard Cite

Erythropoietic protoporphyria (EPP) is an inherited metabolic disorder of heme synthesis resulting from overproduction of protoporphyrin IX (PPIX), which can lead to progressive liver disease characterized by recurrent EPP crises and end‐stage liver disease. We used the Australian Transplant Registry to identify 5 patients referred for liver transplantation between 2008 and 2017. A total of 4 patients had EPP secondary to ferrochelatase deficiency, and 1 patient had X‐linked EPP. No patient had follow‐up with a specialist prior to the diagnosis of progressive liver disease. There were 3 patients who underwent orthotopic liver transplantation, whereas 2 died while on the transplant waiting list. Parenteral PPIX‐lowering therapy was used in 4 patients and was effective in 3 patients, although 2 of these had rebound porphyria and worsening liver function following a decrease in the intensity of therapy. Early disease recurrence in the allograft following transplantation occurred in 2 patients requiring red cell exchange (RCE) to successfully attain and maintain low PPIX levels, but RCE was associated with hemosiderosis in 1 patient. Allogeneic stem cell transplantation (AlloSCT) was performed in 2 patients. One failed engraftment twice, whereas the second rejected the first graft but achieved full donor chimerism with a second graft and increased immunosuppression. In conclusion, our observations suggest that progressive liver disease needs parenteral PPIX‐lowering treatment with the intensity adjusted to achieve a target Erc‐PPIX level. Because EPP liver disease is universally recurrent, AlloSCT should be considered in all patients with adequate immunosuppression to facilitate engraftment. RCE appears to be effective for recurrent EPP liver disease but is associated with an increased risk of iron overload.

show abstract

Section: Discussionmentioning

confidence: 99%

Management of Patients With Erythropoietic Protoporphyria–Related Progressive Liver Disease

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Case series suggest that pre‐operative plasmapheresis, red cell exchange, hemin infusions to lower blood protoporphyrin levels, and operating room light filters with wavelengths smaller than 470 nm improve patient outcomes. ( 4,5 )…”

Section: Discussionmentioning

confidence: 99%

A Polarizing Case of Elevated Liver Enzymes

et al. 2020

View full text Add to dashboard Cite

“…However, a PPIX reduction of up to 85% and a resolution of inflammatory liver damage have been reported after allogeneic hematopoietic stem cell transplantation, even when performed before or after liver transplantation. 125,126 Drug restriction, as required for AHP, is not required for patients with EPP or XLP. Interestingly, iron substitution can decrease protoporphyrin concentrations and improve symptoms in patients with XLP-sufficient iron as second substrate promotes conversion of toxic PPIX to heme by FECH.…”

Section: Therapymentioning

confidence: 99%

Clinical Guide and Update on Porphyrias

Stölzel¹,

Doss²,

Schuppan³

2019

Gastroenterology

115

158

View full text Add to dashboard Cite

Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic acid dehydratase deficient porphyria) manifest in attacks and are characterized by overproduction of porphyrin precursors, producing often serious abdominal, psychiatric, neurologic, or cardiovascular symptoms. Patients with variegate porphyria and hereditary coproporphyria can present with skin photosensitivity. Diagnosis relies on measurement of increased urinary 5-aminolevulinic acid (in patients with aminolevulinic acid dehydratase deficient porphyria) or increased 5-aminolevulinic acid and porphobilinogen (in patients with other acute porphyrias). Management of attacks requires intensive care, strict avoidance of porphyrinogenic drugs and other precipitating factors, caloric support, and often heme therapy. The non-acute porphyrias are porphyria cutanea tarda, erythropoietic protoporphyria, X-linked protoporphyria, and the rare congenital erythropoietic porphyria. They lead to the accumulation of porphyrins that cause skin photosensitivity and occasionally severe liver damage. Secondary elevated urinary or blood porphyrins can occur in patients without porphyria, for example, in liver diseases, or iron deficiency. Increases in porphyrin precursors and porphyrins are also found in patients with lead intoxication. Patients with porphyria cutanea tarda benefit from iron depletion, hydroxychloroquine therapy, and, if applicable, elimination of the hepatitis C virus. An a-melanocytestimulating hormone analogue can reduce sunlight sensitivity in patients with erythropoietic protoporphyria or Xlinked protoporphyria. Strategies to address dysregulated or dysfunctional steps within the heme biosynthetic pathway are in development.

show abstract

Erythropoietic protoporphyria in an adult with sequential liver and hematopoietic stem cell transplantation: A case report

Cited by 21 publications

References 11 publications

Management of Patients With Erythropoietic Protoporphyria–Related Progressive Liver Disease

Management of Patients With Erythropoietic Protoporphyria–Related Progressive Liver Disease

A Polarizing Case of Elevated Liver Enzymes

Clinical Guide and Update on Porphyrias

Contact Info

Product

Resources

About