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The treatments for Congenital Erythropoietic Porphyria, CEP, Erythropoietic ProtoPorpryia, EPP, X Linked ProtoPorphyria, XLPP, and Porphyria Cutanea
Tarda, PCT

 

 

What is the treatment for Congenital Erythropoietic Porphyria?

from: Author: Dr Chin-Yun Lin, Dermatology Registrar, Auckland Hospital, New Zealand, 2010. Updated by Dr Gayle Ross, Dermatologist, Melbourne Hospital, Melbourne, VIC, Australia. DermNet Editor in Chief Adjunct A/Prof Amanda Oakley, Dermatologist, Hamilton, New Zealand. March 2019.

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CEP currently persists lifelong.

It is essential to protect the skin from all forms of daylight and most forms of artificial lighting to reduce symptoms and damage.

Indoors, incandescent lamps are more suitable than fluorescent lamps and protective films can be placed on the windows to reduce the light that provokes porphyria.
 

  • Many sunscreens are not effective, because porphyrins react with visible light. Those containing zinc and titanium or mineral makeup may provide partial protection.

  • Sun protective clothing is more effective, including densely woven long-sleeve shirts, long trousers, broad-brimmed hats, bandanas and gloves.

  • Supplemental Vitamin D tablets should be taken.
     

Other reported treatments include:

  • High dose beta carotene, to absorb light energy

  • Low-dose hydroxychloroquine, to increase excretion of porphyrins

  • Afamelanotide

  • Blood transfusion to suppress heme production.

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Bone marrow transplant has been successful in a few cases, although long term results are not yet available. At present, this treatment is experimental.

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​What is the treatment for Erythropoietic protoporphyria and X Linked Protoporphyria?

All information obtained from Gayle Ross, Dermatologist, and Amanda Oakley, Dermatologist via DermNet NZ.

Erythropoietic ProtoPorphyria "EPP" and X linked ProtoPorphyria are similar diseases though on different genes that cause pain, redness, and in EPP less commonly blistering and crusting, when the skin is exposed to sunlight or UV lighting (halogen or fluorescent). Italicized portions from other sources

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There is (currently) no cure for EPP and XLPP.

Lifelong photo sensitivity is the main problem.
 

  • Once the pain has started, pain relief can be difficult to achieve. Most patients immerse the affected areas in cold water or use ice packs. Topical anesthetic creams can be helpful.

  • To reduce pain, avoid unnecessary exposure to sunlight and wear protective clothing and wide-brimmed hats.

  • Car, home, school, and work windows should be tinted.

  • Other sources of light may also cause symptoms, including fluorescent and halogen lights.

  • Protect the skin from exposure to operating lamps during a surgical procedure. 

  • Sunscreens may be helpful, especially formulations containing zinc oxide or titanium dioxide that reflect visible light. Other sources say regular sunscreens aren't effective just the thick white zinc oxide and possibly the Titanium dioxide. 

  • Vitamin D supplementation is appropriate in patients that strictly avoid exposure to sunlight.
     

Avoidance of alcohol is important to reduce the risk of liver damage and liver failure.

Trials of treatment for EPP have been difficult to assess. Effective treatment should reduce pain and increase time outdoors without pain.
 

  • Narrowband UVB phototherapy does not cause the EPP pain. It is given 3 days a week over 6  weeks in Spring. It increases melanin content (causing a tan) and induces skin thickening so to provide some level of protection from the sun.

  • Oral antioxidants such as beta-carotene, Polypodium leucotomas extract, warfarin and N-acetyl cysteine have been used but studies showing effectiveness are lacking.

  • Iron supplementation should be avoided — unless severely iron deficient — as iron can increase photo sensitivity in EPP.

  • Afamelanotide, an α-melanocyte stimulating hormone given by subcutaneous implantation, has been reported to provide clinical effectiveness and safety in EPP. It is approved by the European Medicines Agency and in the USA for the treatment of EPP under orphan drug status.

  • Patients with EPP that also have liver disease require specialist medical treatment and possibly liver transplantation.

  • Some patients report that applying self tanner to the skin even to skin under clothes helps the pain of light exposure. -Facebook Porphyria Support Group International 2021.

  • several patients have resorted to making capes and clothes with blackout curtain material as a liner. -PSGI

  • Other patients chose night time jobs and night hobbies. -PSGI

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What is sun protective clothing and UPF?
 

Introduction

detailed explanation of Sun protective clothing by Vanessa Nagen  staff writer for DermNet NZ:

 

The damaging effects of the sun are well established. Exposure to ultraviolet radiation contributes to skin ageing and is the main cause of skin cancer. Sun protection methods are extremely important in preventing these damaging effects. One method is to wear sun protective clothing.

 

Sun protective clothing is clothing that is manufactured from ultraviolet (UV) protective fabric. The definition of a sun protective fabric is a fabric that must achieve a minimum UV Protection Factor (UPF) rating of at least UPF15 after the equivalent of 2 years of normal wear and tear. UPF is similar to SPF (sun protection factor) used to rate sunscreens, but UPF is the rating used to measure the UV rays that pass through fabrics when exposed to UV radiation. UPF ratings are shown in the table below.
 

  • UPF 15 or 20: Good protection

  • UPF 25, 30, 35: Very good protection

  • UPF 40, 50, 50+: Excellent protection

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In New Zealand, genuine sun protective clothing must be made from fabric that complies with the standard AS/NZS4399:1996. Clothing that has met this standard will carry a label stating one of the UPF ratings as shown in the table above.
 

Much research is going into producing sun protective fabrics. A team at the University of New South Wales in Australia has developed a material that looks like pure close-knit cotton with a UPF of 100. Research has shown that a simple white cotton T-shirt only provides the same protection as applying a sunscreen with SPF 5. The amount of protection fabric provides depends on the type of fabric and the weave or knit of the fabric. In general, the tighter the weave or knit, the higher the UPF.

Fabrics that provide better protection include:
 

  • Specially manufactured fabrics for sun protection

  • Blue or black denim jeans

  • Merino wool garments

  • 100% polyester

  • Shiny polyester blends

  • Satin-finish silk of any weight

  • Tightly woven fabrics

  • Unbleached cotton
     

Fabrics that provide poor protection include:

  • Polyester crepe

  • Bleached cotton

  • Viscose

  • Knits, especially loosely woven

  • Undyed, white denim jeans

  • Threadbare, worn fabric
     

It is not necessary to buy clothing made from specially manufactured sun protective fabric, as a wide variety of everyday apparel will provide some protection. To assess protection simply hold the material up to a window or lamp and see how much light gets through. Less light filtering through means greater protection. In addition, darker colors provide more protection than fabrics of the same material in light colors.

Many fabrics, including special sun-protective clothing, will have their protection reduced, some by as much as half when they get wet. This is especially true for wet cotton; silk and viscose may be more protective when wet.

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What is the treatment of Porphyria Cutanea Tarda?

First created in 1997. Updated by Dr Gayle Ross, Dermatologist, Melbourne Hospital, Melbourne, VIC, Australia. DermNet Editor in Chief Adjunct A/Prof. Amanda Oakley, Dermatologist, Hamilton, New Zealand. March 2019.

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Treatment of an underlying liver problem may result in the resolution of PCT and may include reducing alcohol consumption, stopping oestrogen or hormone treatment, avoiding excessive iron intake, or antiviral treatment for underlying hepatitis C.
 

  • Clothing when outdoors should include long sleeves, gloves and a hat.

  • Sun protection with an opaque sunscreen that blocks visible light, such as zinc. Fake tan (containing dihydroxyacetone) can also provide some protection.

  • Venesection is the main treatment for PCT. Approximately 500 ml of blood is removed every 2–4 weeks until the iron stores have returned to normal. This uses up excess iron by making new red blood cells.

  • If venesection cannot be done, as in elderly patients or those who are anemic, antimalarial tablets such as hydroxychloroquine are given in low dose to allow the porphyrins to be excreted more easily.

 

What is the outlook for porphyria cutanea tarda?

Once clear, PCT is unlikely to recur unless the underlying risk factors have not been addressed. If PCT is ongoing, there can be an increased risk of liver cancer.

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