Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria

  title={Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria},
  author={Maura Faraci and Giuseppe Morreale and E. Erba Boeri and Edoardo Lanino and Sandro Dallorso and Giorgio Dini and Francesca Scuderi and Amnon Cohen and Barbara Cappelli},
  journal={Pediatric Transplantation},
Abstract: CEP is a rare inborn error of porphyrin–heme synthesis. Clinical manifestations can range from mild to severe and include erythrodontia, reddish‐colored urine, and hemolytic anemia that can be mild or severe and may result in splenomegaly. Completely avoiding exposure to the sun is crucial. Attempts to reduce erythropoiesis and to lower circulating porphyrin levels by means of erythrocyte transfusions have been successful in reducing the expression of the disease. However, the… 

Erythrodontia in congenital erythropoietic porphyria

An 18-month-old female baby with clinical, hematological and biochemical profile of CEP was reported with marked skin photosensitivity over face and hands, and when evaluating erythrodontia of uncertain cause, it is advocated maintaining a high degree of awareness for porphyria, especially for CEP.

Successful Treatment of Congenital Erythropoietic Porphyria Using Matched Unrelated Hematopoietic Stem Cell Transplantation

The case of a male infant with severe postdelivery symptoms diagnosed with CEP and found to be homozygous for the C73R mutation is reported, confirming that patients with severe CEP can benefit from early postnatal hematopoietic stem cell transplantation.

Bone marrow transplantation in congenital erythropoietic porphyria: Sustained efficacy but unexpected liver dysfunction.

  • C. BesnardC. Schmitt M. Frémond
  • Medicine
    Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
  • 2019

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.

This article presents a young girl in which precocious genetic testing enabled early diagnosis and allowed curative treatment with HSCT for CEP at the age of 3 months of age, that is, the youngest reported case thus far.

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

The severity of clinical manifestations is markedly heterogeneous among patients; and interdependence between disease severity and porphyrin amount in the tissues has been pointed out.

Congenital erythropoietic porphyria: Recent advances.

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases

The once-in-a-lifetime treatment ofCongenital erythropoietic porphyria is still a viable option, but management decisions in CEP are often difficult.

Bone marrow transplantation improves symptoms of congenital erythropoietic porphyria even when done post puberty.

There are a number of autosomal dominantly inherited leukonychia syndromes, including leukONYchia totalis in combination with kidney stone and sebaceous cysts, as well as leukonchia, with sensory-neural deafness and knuckle pads, known as the Bart-Pumphrey syndrome.

Cutaneous porphyrias part II: treatment strategies

This article presents a comprehensive review of available therapeutic options and long‐term management recommendations for the cutaneous porphyrias.



Bone-marrow transplantation for congenital erythropoietic porphyria

Congenital erythropoietic porphyria: dilemmas in present day management

A 35‐year‐old man who has the severe infantile form is presented and the haematological and photodestructive complications despite attempts at treatment with hypertransfusion, oral charcoal therapy and beta‐carotene are illustrated.

Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature

The case of a 23-month-old boy who was cured of his CEP by a matched-sibling allogeneic bone marrow transplant, and review the published clinical experience regarding transplantation in this disease.

Allogeneic bone marrow transplantation in a 7‐year‐old girl with congenital erythropoietic porphyria: a treatment dilemma

A 7‐year‐old girl with CEP characterized by severe photosensitivity but only mild anaemia, in whom the difficult decision to proceed with allogeneic BMT was made after discussion in a multidisciplinary team, is described.

Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)

Considering the severity of the disease, haematopoietic stem cell transplantation using a matched unrelated donor should be strongly considered for treating congenital erythropoietIC porphyria since this is currently the only known curative therapy.

Diagnosis and management of the erythropoietic porphyrias

There are multiple treatment options for these two porphyrias, however, aside from bone marrow transplant for CEP, none is curative.

Congenital erythropoietic porphyria: advances in pathogenesis and treatment

In patients with this autosomal recessive disease, the clinical manifestations are markedly heterogeneous, ranging from non-immune hydrops fetalis to milder, later onset forms which have only cutaneous lesions in adult life (Desnick et al, 1998).

Modern diagnosis and management of the porphyrias

  • S. Sassa
  • Medicine
    British journal of haematology
  • 2006
For the diagnosis of clinically expressed porphyrias, a logical stepwise approach including the analysis of porphyrins and their precursors should not be underestimated, as it is still very useful, and is often the best from the cost‐effective point of view.

Testicular function after cytotoxic chemotherapy: evidence of Leydig cell insufficiency.

In a significant proportion of men, there is good evidence of Leydig cell dysfunction after cytotoxic chemotherapy, and some of these men may benefit from testosterone replacement.

Congenital erythropoietic porphyria successfully treated by allogenic bone marrow transplantation

  • Blood
  • 1998