Porphyria cutanea tarda: an intriguing genetic disease and marker

Handler, Nancy S.; Handler, Marc Z.; Stephany, Matthew P.; Handler, Glenn A.; Schwartz, Robert A.

doi:10.1111/ijd.13580

Cited by 37 publications

(46 citation statements)

References 96 publications

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“…Cutaneous porphyrias compose the second clinical group of porphyrias and have two main phenotypes: bullous porphyria (sporadic and familial PCT) and acute painful photosensitive porphyria (erythropoietic protoporphyria and X-linked erythropoietic protoporphyria). PCT is characterized by bullous and blister lesions on areas of exposed skin and is associated with skin fragility [ 12 ]. Notably, a photocutaneous disease similar to PCT can occur in individuals with variegate porphyria and hereditary coproporphyria.…”

Section: Introductionmentioning

confidence: 99%

Porphyria and kidney diseases

Pallet

Karras

Thervet

et al. 2018

Clinical Kidney Journal

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The kidneys, after the bone marrow and liver, are third in terms of the amounts of haem synthesized daily. Haem is incorporated into haemoproteins that are critical to renal physiology. In turn, disturbances in haem metabolism interfere with renal physiology and are tightly interrelated with kidney diseases. Acute intermittent porphyria causes kidney injury, whereas medical situations associated with end-stage renal disease, such as porphyrin accumulation, iron overload and hepatitis C, participate in the inhibition of uroporphyrinogen decarboxylase and predispose the individual to porphyria cutanea tarda. Even if some of these interactions have been known for a long time, the clinical situations associated with these interrelations have strikingly evolved over time with the advent of new therapeutic strategies for dialysis therapy and a better understanding of the pathophysiological mechanisms of porphyria-associated kidney disease. Physicians should be aware of these interactions. The aim of this review is to summarize the complex interactions between kidney physiology and pathology in the settings of porphyria and to emphasize their often-underestimated importance.

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Section: Introductionmentioning

confidence: 99%

Porphyria and kidney diseases

Pallet

Karras

Thervet

et al. 2018

Clinical Kidney Journal

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“…Low‐dose antimalarial is our first‐line treatment, although phlebotomy has been considered first choice by other authors . Subsequently most patients (72.4%) in this study received antimalarial as monotherapy because it is less expensive than phlebotomy explained by: avoiding travel cost, use of hospital supplies, and time lost from work besides difficulties in access to hospital care .…”

Section: Discussionmentioning

confidence: 83%

“…PCT results from inhibition of uroporphyrinogen III decarboxylase (UROD) that produces markedly increased uroporphyrins (URO) and heptacarboxyl porphyrins in plasma and urine, along with lesser amounts of coproporphyrin (COPRO) . There are three types of PCT: acquired or sporadic (type I), familial or inherited (type II), and a rare familial type (type III) with no UROD mutation . Approximately 80% of patients with PCT have the sporadic type in which UROD activity deficit is restricted to the liver.…”

Section: Introductionmentioning

confidence: 99%

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Experience in management of porphyria cutanea tarda in a tertiary referral Brazilian hospital from 2002 to 2017

2019

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Background Porphyria cutanea tarda (PCT) is the most common porphyria worldwide.The known acquired precipitating factors that induce PCT include alcoholism, hepatitis C virus infection, human immunodeficiency virus infection, and estrogen intake. Hereditary hemochromatosis is considered an inherited risk factor. The aim of this study was to describe and analyze precipitating factors and family history, with emphasis on PCT management. Methods A retrospective study of 87 patients with PCT was conducted between January 2002 and December 2017.Results A male predominance of 1.8 : 1 was found. The median age at diagnosis was 49 years (range 18-71). Family history of PCT was observed in 19.5% of patients. Two or more acquired precipitating factors were present in 42.5%. Patients were treated with antimalarial monotherapy (72.4%), antimalarial combined with phlebotomy (22.9%), and only with phlebotomy (4.6%). Acquired precipitating factors and inherited factors were not associated with treatment group. There was a difference in 24 h-UP normalization rate between treatment groups; combined therapy takes longer than antimalarial monotherapy, 38 months versus 15 months, respectively (CI 95%, 6.5-63.5 vs. 12.9-17) (log-rank test, P = 0.004).Conclusion Precipitating factors did not seem to be associated with treatment choice; however, all acquired and inherited precipitating factors should be investigated, and the choice between phlebotomy and/or antimalarials should be individualized. All dermatologists treating PCT patients should observe transferrin saturation and ferritin levels to search for underlying hereditary hemochromatosis. * P = 0.021 according to a t-test.

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“…El órgano donde se acumulan preferentemente estas se utiliza para clasificar los tipos de porfirias y predecir los signos y síntomas de presentación. En el caso de la porfiria cutánea tarda (PCT), la más frecuente de las porfirias, la enzima afectada es la uroporfirinógeno decarboxilasa (UROD) y la acumulación ocurre en el hígado 2 .…”

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Porfiria cutánea tarda. Caso clínico

Toro²,

Molgó

2018

Rev. méd. Chile

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Porphyria cutanea tarda. Case report Porphyria cutanea tarda (PCT) is the most common type of porphyria: it is characterized by blistering lesions, erosions and crusts on the back of the hands, associated with photosensitivity and facial hypertrichosis. It is produced by acquired or hereditary deficiency of the enzyme UROD, fifth enzyme in the chain of production of the Heme group. This causes accumulation of porphyrins in the liver, which are subsequently mobilized to the skin, where lesions are generated by photosensitivity. This deficiency can be exacerbated by multiple causes. We report a 51-year-old female presenting with the characteristic dermal lesions described above, which disappeared when she discontinued her hormone replacement therapy with estradiol and dydrogesterone. Urinary and blood uroporphyrin and hexacarboxyl porphyrins were elevated and plasma ferritin was 479 ng/ ml. Hormone replacement therapy was discontinued and phlebotomies were attempted but not tolerated by the patient. The dermic lesions have not relapsed.

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Porphyria cutanea tarda: an intriguing genetic disease and marker

Cited by 37 publications

References 96 publications

Porphyria and kidney diseases

Porphyria and kidney diseases

Experience in management of porphyria cutanea tarda in a tertiary referral Brazilian hospital from 2002 to 2017

Porfiria cutánea tarda. Caso clínico

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