Haemochromatosis Gene Mutations and Response to Chloroquine in Sporadic Porphyria Cutanea Tarda

Toll, Agustí; Celis, Raquel; Ozalla,; Mg, Ercilla; Herrero, Carmen

doi:10.2340/00015555-0061

Cited by 6 publications

(8 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our patient had an excellent response to these treatments [2,4,6]. However, there is evidence that patients that are homozygotes for the C282Y mutation suboptimally respond to (hydroxy)chloroquine therapy in contrast to their heterozygote and wild-type counterparts [6]. …”

Section: Discussionmentioning

confidence: 87%

See 1 more Smart Citation

Primary hemochromatosis presented by porphyria cutanea tarda: a case report

Bovenschen¹,

Vissers²

2009

Cases J

View full text Add to dashboard Cite

We present a 27-year-old female Caucasian patient, who initially presented with extensive fragility and blistering of mainly the dorsal side of both hands. Histology and urine porphyrin analysis confirmed the diagnosis of porphyria cutanea tarda. Internal screening for underlying disease revealed C282Y mutation-associated primary hemochromatosis, a hereditary iron-overload syndrome that may cause toxicity of a variety of organs. Hemochromatosis and porphyria cutanea tarda are pathogenetically linked as iron interferes with heme synthesis pathway. Patient was successfully treated with phlebotomy and low-dose hydroxychloroquine.

show abstract

Section: Discussionmentioning

confidence: 87%

“…Most patients with heriditary hemochromatosis have a mutation in one of the mentioned HFE genes located on chromosome 6 [6]. Hemochromatosis interferes with the transferrin receptor and causes a clear decrease in the affinity with which the receptor binds transferrin.…”

Section: Discussionmentioning

confidence: 99%

Primary hemochromatosis presented by porphyria cutanea tarda: a case report

Bovenschen¹,

Vissers²

2009

Cases J

View full text Add to dashboard Cite

show abstract

“…We did not find a study showing results with combined therapy. Antimalarial indication is insufficient to treat clinical HH in PCT patients, and phlebotomy must be used . We defend the combined therapy since antimalarial reduces porphyrin and ferritin levels in PCT efficiently but as HH cannot be neglected, phlebotomy should be associated in patients with iron overload to prevent its complications and PCT relapse.…”

Section: Discussionmentioning

confidence: 99%

“…A retrospective study which investigated HFE mutations in PCT recommends phlebotomy combination in patients with C282Y heterozygosis and homozygosis . It is important to observe that treatment period to evaluate therapeutic response was short (6 months).…”

Section: Discussionmentioning

confidence: 99%

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

2019

View full text Add to dashboard Cite

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.

show abstract

“…Increased frequencies of the C282Y and H63D mutations of HFE, which are associated with hepatic iron overload, have been widely reported in patients with PCT. 82 These mutations are estimated to occur in 2-27% of patients with PCT. 61,[83][84][85][86] Patients found to have a disease-causing HFE mutation should be offered consultation with a genetics professional to help them better understand inheritance patterns and implications for their families.…”

Section: Hemochromatosis and Pctmentioning

confidence: 99%

Cutaneous porphyrias part II: treatment strategies

et al. 2013

View full text Add to dashboard Cite

The porphyrias are diverse in pathophysiology, clinical presentation, severity, and prognosis, presenting a diagnostic and therapeutic challenge. Although not easily curable, the dermatological manifestations of these diseases, photosensitivity and associated cutaneous pathology, can be effectively prevented and managed. Sun avoidance is essential, and patient education regarding the irreversibility of photocutaneous damage is a necessary corollary. Beyond preventative measures, the care of fragile, vulnerable skin, and pain management, each of the porphyrias has a limited number of unique additional therapeutic options. Many of the treatments have been published only in small case series or anecdotal reports and do not have well-understood nor proven mechanisms of action. This article presents a comprehensive review of available therapeutic options and long-term management recommendations for the cutaneous porphyrias.

show abstract

Haemochromatosis Gene Mutations and Response to Chloroquine in Sporadic Porphyria Cutanea Tarda

Cited by 6 publications

References 9 publications

Primary hemochromatosis presented by porphyria cutanea tarda: a case report

Primary hemochromatosis presented by porphyria cutanea tarda: a case report

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

Cutaneous porphyrias part II: treatment strategies

Contact Info

Product

Resources

About