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The porphyrias are a group of diseases caused by a problem in the breakdown of hemoglobin, the oxygen-carrying part of red blood cells. Unlike other forms of this disorder, porphyria cutanea tarda, or P.C.T., usually arises as a result of an underlying disease. It is inherited in only about 20 percent of cases; and in those who inherit the gene, the patient doesn’t develop any symptoms until another disease causes additional injury. The rest of the name highlights the disease’s most characteristic qualities: It affects the skin (cutanea) and it appears late in life (tarda). In P.C.T., the particular components of hemoglobin that are not fully broken down migrate to the skin, where they cause…

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 Porphyria the Real Life Vampire Disease

When we think of vampire folklore we tend to be reminded of several qualities that signify that someone or something is a vampire. Aside from biting, vampires are also known for avoiding sunlight, hating garlic, and having long sharp fangs. However, did you know that there is a real-life disease that can explain some of these unnatural symptoms? Sometimes known as the vampire disease, Porphyria, is a blood condition that sparked some of the key characteristics of vampires.

 The clinical management of porphyria cutanea tarda: An update

Porphyria cutanea tarda (PCT) is the commonest of the porphyrias (Semin Liver Dis 1998;18:67). It often occurs secondary to an underlying internal disorder, has significant impacts on liver health and longevity, and is a treatable disease. Thus, for the clinician, recognising the disease to make the correct diagnosis, identifying causative underlying diseases, and treating the porphyria and its complications, are crucial. Although reviews on the management of PCT have been written, there have recently been significant advances in the understanding of the factors predisposing to the disease, and of its wider health impacts.

 Vampire myths originated with a real blood disorder

But where did the myth of vampires come from? Like many myths, it is based partly in fact. A blood disorder called porphyria, which has has been with us for millennia, became prevalent among the nobility and royalty of Eastern Europe. Porphyria is an inherited blood disorder that causes the body to produce less heme — a critical component of hemoglobin, the protein in red blood cells that carries oxygen from the lungs to the body tissues. It seems likely that this disorder is the origin of the vampire myth. In fact, porphyria is sometimes referred to as the “vampyre disease.”

Articles of Interest

What is porphyria cutanea tarda?

Specific treatments aimed at reducing porphyrin levels are as follows: If raised iron levels are found then these can be reduced by regularly removing a unit of blood (the same amount as given by blood donors). The body uses iron to make more blood and the process is repeated every few weeks or months until the excess iron has been removed. In the genetic disorder haemochromatosis, which may occur in association with PCT, removal of excess iron may need to be on a long-term basis. Low-dose hydroxychloroquine may be prescribed (usually one tablet twice weekly for several months or years). This drug helps to mobilise the excess porphyrin from the liver so that it can pass out of the body in the urine. It is important that only small doses are used, as larger doses can cause acute inflammation of the liver in people with PCT. In patients who cannot tolerate either of these two treatments, other options are available, although these are more complicated to administer and would be discussed with you individually. Women on oestrogen treatments including the combined contraceptive pill will be asked to stop taking them while the PCT is being treated. However it may be possible to restart hormone treatment once the PCT has been treated.

When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda

PCT results from the deficient activity of the uroporphyrinogen decarboxylase (UROD), an enzyme in the heme synthesis pathway. Deficient UROD activity causes an accumulation of uroporphyrinogen III and subsequent oxidation to photosensitive uroporphyrin leading to both bullous skin lesions after light exposure and red-colored urine. The treatment includes limitation of sun exposure and elimination of UROD inhibitors such as porphyrinogenic drugs, smoking, alcohol, or estrogen intake. Elevated ferritin is a precipitating factor and in such a case, repeated phlebotomies can lead to a striking clinical improvement

Iron, genes, and viruses: the porphyria cutanea tarda triple threat

Porphyria cutanea tarda (PCT) is a vesiculobulIous disorder often associated with estrogens, hepatitis C virus (HCV), alcoholism, hereditary hemochromatosis (HH), and human immunodeficiency virus. Hepcidin, a peptide hormone produced by the liver, has been associated with iron metabolism in 3 common precipitating factors for PCT: HCV, HH, and alcohol consumption.

Porphyria Cutanea Tarda and Agent Orange

VA presumes porphyria cutanea tarda (PCT) is related to Veterans' exposure to Agent Orange or other herbicides during military service when the disease appears within one year of exposure to Agent Orange to a degree of at least 10 percent disabling by VA's rating regulations.

Porphyria cutanea tarda treated with short-term high-dose hydroxychloroquine: a case report

In this case, we believe that short-term oral high-dose hydroxychloroquine can lead to rapid remission in patients with PCT. On the one hand, this treatment option reduces the economic and time costs of treating PCT compared to previous treatment options. On the other hand, a significant treatment effect in a short period of time can motivate the patient to be more aggressive in his treatment. Therefore, this short-term oral high-dose hydroxychloroquine regimen may be a better option for the treatment of PCT.

Porphyria Cutanea Tarda: A Multifactorial Disease

Porphyria cutanea tarda (PCT) is a disorder characterized by porphyrin accumulation leading to photosensitivity and skin fragility, often triggered by a combination of genetic, autoimmune, and environmental factors.

Porphyria Cutanea Tarda: Treatment Options Revisited

Serial phlebotomy, in which 400—500 mL of whole blood is withdrawn from patients with symptomatic PCT approximately every 2 weeks for 3 to 4 months or longer, has been a first-line treatment for several decades. Most individuals with PCT have excess liver iron stores. Iron mediates repression of the heme synthetic enzyme uroporphyrinogen decarboxylase, resulting in accumulation of polycarboxylated porphyrinogens that exit the pathway as photoactive porphyrins after spontaneous oxidation. Phlebotomy stimulates erythropoiesis, which mobilizes tissue iron from storage sites. Repeated venesections deplete excess tissue iron, leading to progressive normalization of the dysregulated hepatic heme synthesis of PCT.

Porphyria: the facts behind the so-called vampire disease

It is possible that a rare inherited blood disorder, called porphyria, gave rise to the myth of vampires and in turn, porphyria has the nickname the vampire disease. Porphyria is actually a group of disorders some of which cause skin blisters and other cutaneous symptoms when skin is exposed to sunlight; it is this fact that is often used to connect porphyria and vampires.

Pseudoporphyria or Porphyria Cutanea Tarda? Diagnostic and Treatment Difficulties

Porphyria cutanea tarda (PCT) is a vesiculobullous skin disorder of heme biosynthesis in which there is an enzyme defect of uroporphyrinogen decarboxylase (Uro-D), leading to accumulation of porphyrins mainly in urine but also in stool and plasma. Pseudoporphyria is clinically similar to PCT, but usually lacks the biochemical abnormalities, and is difficult to distinguish clinically and histologically.

The wolf man

First his face started getting hairy. Then he became allergic to the sun. What on earth was happening? Ed Walker on contracting porphyria. There are many forms of porphyria, some congenital and some acquired in adult life. Mine - porphyria cutanea tarda, or PCT - is one of the milder, acquired types. The porphyrins are a family of molecules produced from red blood cells gone past their use-by date. The red pigment, haemoglobin, is metabolised in the liver and normally ends up as yellow or brown pigment, giving urine and faeces their characteristic colours. But if for whatever reason the liver cannot complete this reaction, levels of intermediate byproducts including porphyrins accumulate in the body.

Resources

International Porphyria Network

This information on PCT is based on best available evidence and the consensus of a subgroup of porphyria specialists in the International Porphyria Network

American Porphyria Foundation

Porphyria Cutanea Tarda (PCT) is the most common of the Porphyrias and results from a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD). Porphyria Cutanea Tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Affected skin is fragile and may peel or blister after minor trauma. Liver abnormalities may also occur.

British Porphyria Association

People with PCT commonly develop skin problems. They will NEVER suffer an acute attack. In PCT the high level of porphyrins leads to photosensitivity. The following symptoms can all develop in areas of skin exposed to sunlight, especially on the backs of the hands and sometimes on the face:

Canadian Association for Porphyria

Porphyria Cutanea Tarda (PCT) is the most common type of porphyria, and the most treatable. It is also unique among the porphyrias, because it is the only type that does not always have a genetic cause.

United Porphyrias Association

PCT is the only form of porphyria that does not always have underlying genetic mutation. Risk factors for developing PCT include excessive alcohol use, smoking, use of oral estrogens (such as birth control pills or hormone replacement therapy), hepatitis C infection, HIV infection, and a disease called hemochromatosis which causes iron overload. About 80% of PCT patients have Sporadic PCT where there is no known gene changes. The remaining 20% have genetic change affecting one copy of the UROD gene, which is called Familial PCT, other risk factors are usually also present in this type of PCT.

DermNet

Porphyria cutanea tarda (PCT) is the most common type of porphyria. The symptoms of PCT are limited to the skin. It does not cause people to become acutely unwell, as in the acute types of porphyria.

Mayo Clinic Proceedings

First-line treatment is therapeutic phlebotomy of 450 mL every 2 weeks until ferritin concentration is less than 20 to 25 ng/dL. Additional management recommendations include broad-spectrum sun protection, alcohol cessation, and hepatitis C treatment. Hydroxychloroquine can be used when phlebotomy is contraindicated.

StatPearls

Porphyria cutanea tarda (PCT) is a part of a spectrum of diseases that arise as a result of abnormal enzymes in the biosynthesis of heme. It is caused by the deficiency of the uroporphyrinogen III decarboxylase (UROD) enzyme and should be differentiated from other porphyrias. PCT is a non-fatal condition presenting mainly with skin manifestations, provided it has been diagnosed appropriately and managed in a timely and regular manner.