Porphyria

Source: Wikipedia, the free encyclopedia.
This article is about the medical condition. For other uses, see Porphyry (disambiguation).
Not to be confused with
Porphyrio
.

Porphyria
Left figure is urine on the first day while the right figure is urine after three days of sun exposure showing the classic change in color to purple.
Pronunciation
SpecialtyHematology, dermatology, neurology
SymptomsDepending on subtype—abdominal pain, chest pain, vomiting, confusion, constipation, fever, seizures, blisters with sunlight[1][2]
Usual onsetRecurrent attacks that last days to weeks[2]
CausesUsually genetic[2]
Diagnostic methodBlood, urine, and stool tests, genetic testing[2]
Differential diagnosisLead poisoning, alcoholic liver disease[3]
TreatmentDepends on type and symptoms[2]
Frequency1 to 100 in 50,000 people[1]

Porphyria is a group of disorders in which substances called

low blood sodium levels, and seizures.[4] Attacks may be triggered by alcohol, smoking, hormonal changes, fasting, stress, or certain medications.[2][4] If the skin is affected, blisters or itching may occur with sunlight exposure.[2]

Most types of porphyria are inherited from one or both of a person's parents and are due to a

hemochromatosis (increased iron in the liver), hepatitis C, alcohol, or HIV/AIDS.[1] The underlying mechanism results in a decrease in the amount of heme produced and a build-up of substances involved in making heme.[1] Porphyrias may also be classified by whether the liver or bone marrow is affected.[1] Diagnosis is typically made by blood, urine, and stool tests.[2] Genetic testing may be done to determine the specific mutation.[2] Hepatic porphyrias are those in which the enzyme deficiency occurs in the liver. Hepatic porphyrias include acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD), hereditary coproporphyria (HCP), and porphyria cutanea tarda [5]

Treatment depends on the type of porphyria and the person's symptoms.

liver transplant may be carried out.[2]

The precise prevalence of porphyria is unclear, but it is estimated to affect between 1 and 100 per 50,000 people.[1] Rates are different around the world.[2] Porphyria cutanea tarda is believed to be the most common type.[1] The disease was described as early as 370 BC by Hippocrates.[6] The underlying mechanism was first described by German physiologist and chemist Felix Hoppe-Seyler in 1871.[6] The name porphyria is from the Greek πορφύρα, porphyra, meaning "purple", a reference to the color of the urine that may be present during an attack.[6]

Signs and symptoms

A skin rash in a person with porphyria

Acute porphyrias

Acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD) and hereditary coproporphyria (HCP). These diseases primarily affect the nervous system, resulting in episodic crises known as acute attacks. The major symptom of an acute attack is abdominal pain, often accompanied by vomiting, hypertension (elevated blood pressure), and tachycardia (an abnormally rapid heart rate).[4]

The most severe episodes may involve neurological complications: typically motor neuropathy (severe dysfunction of the peripheral nerves that innervate muscle), which leads to muscle weakness and potentially to quadriplegia (paralysis of all four limbs) and central nervous system symptoms such as seizures and coma. Occasionally, there may be short-lived psychiatric symptoms such as anxiety, confusion, hallucinations, and, very rarely, overt psychosis. All these symptoms resolve once the acute attack passes.[citation needed]

Given the many presentations and the relatively low occurrence of porphyria, patients may initially be suspected to have other, unrelated conditions. For instance, the polyneuropathy of acute porphyria may be mistaken for Guillain–Barré syndrome, and porphyria testing is commonly recommended in those situations.[7] Elevation of aminolevulinic acid from lead-induced disruption of heme synthesis results in lead poisoning having symptoms similar to acute porphyria.[8][9][10][11][12][13]

Chronic porphyrias

The non-acute porphyrias are X-linked dominant protoporphyria (XLDPP), congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), and erythropoietic protoporphyria (EPP). None of these are associated with acute attacks; their primary manifestation is with skin disease. For this reason, these four porphyrias—along with two acute porphyrias, VP and HCP, that may also involve skin manifestations—are sometimes called cutaneous porphyrias.

Skin disease is encountered where excess porphyrins accumulate in the skin. Porphyrins are photoactive molecules, and exposure to light results in promotion of electrons to higher energy levels. When these return to the resting energy level or ground state, energy is released. This accounts for the property of fluorescence typical of the porphyrins. This causes local skin damage.

Two distinct patterns of skin disease are seen in porphyria:

  • Immediate photosensitivity. This is typical of XLDPP and EPP. Following a variable period of sun exposure—typically about 30 minutes—patients complain of severe pain, burning, and discomfort in exposed areas. Typically, the effects are not visible, though occasionally there may be some redness and swelling of the skin.
  • Vesiculo-erosive skin disease. This—a reference to the characteristic blistering (vesicles) and open sores (erosions) noted in patients—is the pattern seen in CEP, PCT, VP, and HCP. The changes are noted only in sun-exposed areas such as the face and back of the hands. Milder skin disease, such as that seen in VP and HCP, consists of increased skin fragility in exposed areas with a tendency to form blisters and erosions, particularly after minor knocks or scrapes. These heal slowly, often leaving small scars that may be lighter or darker than normal skin. More severe skin disease is sometimes seen in PCT, with prominent lesions, darkening of exposed skin such as the face, and hypertrichosis: abnormal hair growth on the face, particularly the cheeks. The most severe disease is seen in CEP and a rare variant of PCT known as hepatoerythropoietic porphyria (HEP); symptoms include severe shortening of digits, loss of skin appendages such as hair and nails, and severe scarring of the skin with progressive disappearance of ears, lips, and nose. Patients may also show deformed, discolored teeth or gum and eye abnormalities.
  • Congenital Porphyerias
  • Congenital porphyrias are genetic disorders caused by mutations in enzymes involved in the heme biosynthesis pathway. There are several types of congenital porphyrias, including erythropoietic protoporphyria (EPP), congenital erythropoietic porphyria (CEP), and porphyria cutanea tarda (PCT). Each type is characterized by specific enzyme deficiencies leading to the accumulation of different porphyrins.
  • Erythropoietic protoporphyria (EPP) is caused by a deficiency in ferrochelatase, leading to the accumulation of protoporphyrin IX in red blood cells, plasma, and tissues. Patients with EPP experience severe photosensitivity, with exposure to sunlight causing painful skin reactions.
  • Congenital erythropoietic porphyria (CEP), also known as Günther's disease, results from a deficiency in uroporphyrinogen III synthase. This leads to the accumulation of uroporphyrin I and coproporphyrin I in the bone marrow, blood, and urine. Symptoms of CEP include severe photosensitivity, anemia, splenomegaly, and often disfiguring cutaneous lesions.
  • Diagnosis of congenital porphyrias involves clinical evaluation, biochemical testing, and genetic analysis. Treatment aims to manage symptoms and prevent acute attacks by avoiding triggers, such as sunlight exposure, certain medications, and alcohol. Additionally, treatments may include phlebotomy to reduce iron levels in PCT, administration of heme preparations to alleviate symptoms, and liver transplantation in severe cases. Early diagnosis and appropriate management are crucial in improving the quality of life for individuals with congenital porphyrias.

Cause

The porphyrias are generally considered genetic in nature.[citation needed]

Genetics

Subtypes of porphyrias depend on which enzyme is deficient.

Porphyria type Deficient enzyme Type of porphyria Inheritance Symptoms Prevalence
Aminolevulinate dehydratase deficiency porphyria
(ALADP)
5-aminolevulinate dehydratase
(ALAD) 		Hepatic
Autosomal recessive[14]
 Abdominal pain, neuropathy[14] Extremely rare; fewer than 10 cases ever reported.[15]
Acute intermittent porphyria (AIP)
Hydroxymethylbilane synthase
(HMBS) formerly porphobilinogen deaminase (PBGD) 		Hepatic
Autosomal dominant[14]
 Periodic abdominal pain, peripheral neuropathy, psychiatric disorders, tachycardia[14] 1 in 10,000[16]–20,000[16]
Congenital erythropoietic porphyria
(CEP) 		uroporphyrinogen synthase (UROS) Erythropoietic
Autosomal recessive[14]
 Severe photosensitivity with erythema, swelling and blistering. Hemolytic anemia, splenomegaly[14] 1 in 1,000,000 or less.[17]
Porphyria cutanea tarda (PCT) uroporphyrinogen decarboxylase (UROD) Hepatic Approximately 80% sporadic,
Autosomal dominant[14]
 		Photosensitivity with
bullae[14]
 1 in 10,000[19]
Hereditary coproporphyria (HCP) coproporphyrinogen oxidase (CPOX) Hepatic
Autosomal dominant[14]
 Photosensitivity, neurologic symptoms, colic[14] 1 in 500,000[19]
Harderoporphyria coproporphyrinogen oxidase (CPOX) Erythropoietic
Autosomal recessive[14]
 Jaundice, anemia, enlarged liver and spleen, often neonatal. Photosensitivity later. Extremely rare; fewer than 10 cases ever reported.
Variegate porphyria (VP) protoporphyrinogen oxidase (PPOX) Hepatic
Autosomal dominant[20]
 Photosensitivity, neurologic symptoms, developmental delay 1 in 300 in South Africa[19]
1 in 75,000 in Finland[21]
Erythropoietic protoporphyria (EPP) ferrochelatase (FECH) Erythropoietic
Autosomal recessive[14]
 Photosensitivity with skin lesions. Gallstones, mild liver dysfunction[14] 1 in 75,000[19]–200,000[19]

X-linked dominant protoporphyria is a rare form of erythropoietic protoporphyria caused by a gain-of-function mutation in ALAS2 characterized by severe photosensitivity.[22][23]

In the autosomal recessive types, if a person inherits a single gene they may become a carrier. Generally they do not have symptoms, but may pass the gene onto offspring.[24]

Triggers

Acute porphyria can be triggered by a number of drugs, most of which are believed to trigger it by interacting with enzymes in the liver which are made with heme. Such drugs include:[25][26][27]

Pathogenesis

Heme synthesis. Note that some reactions occur in the cytoplasm and some in the mitochondrion (yellow).

In humans, porphyrins are the main precursors of heme, an essential constituent of hemoglobin, myoglobin, catalase, peroxidase, and P450 liver cytochromes.[28]

The body requires porphyrins to produce

red blood cells.[29]

Deficiency in the

enzymes—have enough residual activity to assist in heme biosynthesis. The principal problem in these deficiencies is the accumulation of porphyrins, the heme precursors, which are toxic to tissue in high concentrations. The chemical properties of these intermediates determine the location of accumulation, whether they induce photosensitivity, and whether the intermediate is excreted (in the urine or feces).[citation needed
]

There are eight

PROTO oxidase, manifests itself with skin lesions similar to those of porphyria cutanea tarda combined with acute neurologic attacks. Hereditary coproporphyria, which is characterized by a deficiency in coproporphyrinogen oxidase, coded for by the CPOX gene, may also present with both acute neurologic attacks and cutaneous lesions. All other porphyrias are either skin- or nerve-predominant.[30]

Diagnosis

Porphyrin studies

Porphyria is diagnosed through biochemical analysis of

ALA dehydratase deficiency or in patients with symptoms due to hereditary tyrosinemia type I.[33]
In cases of mercury- or arsenic poisoning-induced porphyria, other changes in porphyrin profiles appear, most notably elevations of uroporphyrins I & III, coproporphyrins I & III, and pre-coproporphyrin.[34]

Repeat testing during an attack and subsequent attacks may be necessary in order to detect a porphyria, as levels may be normal or near-normal between attacks. The urine screening test has been known to fail in the initial stages of a severe, life-threatening attack of acute intermittent porphyria.[citation needed]

Up to 90% of the genetic carriers of the more common, dominantly inherited acute hepatic porphyrias (acute intermittent porphyria, hereditary

coproporphyria.[citation needed
]

As most porphyrias are

false negative result may occur. Samples must be protected from light and either refrigerated or preserved.[17]

If all the porphyrin studies are negative, one must consider pseudoporphyria. A careful medication review often will find the cause of pseudoporphyria.[citation needed]

Additional tests

Further diagnostic tests of affected organs may be required, such as

ultrasound of the liver. Basic biochemical tests may assist in identifying liver disease, hepatocellular carcinoma, and other organ problems.[35]

•Other Diagnosis

Clinical Evaluation: A thorough medical history and physical examination focusing on symptoms related to photosensitivity, skin lesions, abdominal pain, and neurological manifestations.

Genetic Testing: Molecular genetic testing to identify specific gene mutations associated with congenital porphyrias.

Other Tests: Liver function tests, iron studies, and imaging studies such as ultrasound or MRI may be conducted to evaluate liver and spleen involvement.

Management

Acute porphyria

Carbohydrate administration

Often, empirical treatment is required if the diagnostic suspicion of a porphyria is high since acute attacks can be fatal. A high-carbohydrate diet is typically recommended; in severe attacks, a

hyponatraemia) and should be done with extreme caution as it can prove fatal.[36]

Heme analogs

St Thomas's Hospital, London.[37] In the United States, Lundbeck manufactures and supplies Panhematin for infusion.[38]

Heme arginate (NormoSang) is used during crises but also in preventive treatment to avoid crises, one treatment every 10 days.[citation needed]

Any sign of low blood sodium (hyponatremia) or weakness should be treated with the addition of hematin, heme arginate, or even tin mesoporphyrin, as these are signs of impending syndrome of inappropriate antidiuretic hormone (SIADH) or peripheral nervous system involvement that may be localized or severe, progressing to bulbar paresis and respiratory paralysis.[citation needed]

Cimetidine

Cimetidine has also been reported to be effective for acute porphyric crisis and possibly effective for long-term prophylaxis.[39]

Symptom control

Pain is severe, frequently out of proportion to physical signs, and often requires the use of

opiates to reduce it to tolerable levels. Pain should be treated as early as medically possible. Nausea can be severe; it may respond to phenothiazine drugs but is sometimes intractable. Hot baths and showers may lessen nausea temporarily, though caution should be used to avoid burns or falls.[citation needed
]

Early identification

It is recommended that patients with a history of acute porphyria, and even genetic carriers, wear an alert bracelet or other identification at all times. This is in case they develop severe symptoms, or in case of accidents where there is a potential for drug exposure, and as a result they are unable to explain their condition to healthcare professionals. Some drugs are absolutely contraindicated for patients with any form of porphyria.[40]

Neurologic and psychiatric disorders

Patients who experience frequent attacks can develop chronic

neuropathic pain in extremities as well as chronic pain in the abdomen.[41] Intestinal pseudo-obstruction, ileus, intussusception, hypoganglionosis, and encopresis in children have been associated with porphyrias. This is thought to be due to axonal nerve deterioration in affected areas of the nervous system and vagal nerve dysfunction. Pain treatment with long-acting opioids, such as morphine, is often indicated, and, in cases where seizure or neuropathy is present, gabapentin is known to improve outcome.[42]

hematin or heme arginate has been used during status epilepticus.[43]

Depression often accompanies the disease and is best dealt with by treating the offending symptoms and if needed the judicious use of antidepressants. Some psychotropic drugs are porphyrinogenic, limiting the therapeutic scope. Other psychiatric symptoms such as anxiety, restlessness, insomnia, depression, mania, hallucinations, delusions, confusion, catatonia, and psychosis may occur.[44]

Underlying liver disease

Some liver diseases may cause porphyria even in the absence of genetic predisposition. These include

hemochromatosis and hepatitis C. Treatment of iron overload may be required.[2]

Patients with the acute porphyrias (AIP, HCP, VP) are at increased risk over their life for hepatocellular carcinoma (primary liver cancer) and may require monitoring. Other typical risk factors for liver cancer need not be present.[2]

Hormone treatment

Hormonal fluctuations that contribute to cyclical attacks in women have been treated with oral contraceptives and luteinizing hormones to shut down menstrual cycles. However, oral contraceptives have also triggered photosensitivity and withdrawal of oral contraceptives has triggered attacks. Androgens and fertility hormones have also triggered attacks.[45] In 2019, givosiran was approved in the United States for the treatment of acute hepatic porphyria.[46][47]

Erythropoietic porphyria

These are associated with accumulation of porphyrins in erythrocytes and are rare.

The pain, burning, swelling, and itching that occur in erythropoietic porphyrias (EP) generally require avoidance of bright sunlight. Most kinds of sunscreen are not effective, but SPF-rated long-sleeve shirts, hats, bandanas, and gloves can help. Chloroquine may be used to increase porphyrin secretion in some EPs.[17] Blood transfusion is occasionally used to suppress innate heme production.[citation needed]

The rarest is congenital erythropoietic porphyria (CEP), otherwise known as

beta carotene may be used in its treatment.[48] A bone marrow transplant has also been successful in curing CEP in a few cases, although long-term results are not yet available.[49]

In December 2014, afamelanotide received authorization from the European Commission as a treatment for the prevention of phototoxicity in adult patients with EPP.[50] In a 2023 industry-funded phase 2 trial, dersimelagon, an orally administered, selective melanocortin 1 receptor agonist that increases levels of skin eumelanin, was reported to have increased the duration of symptom-free sunlight exposure and quality of life compared to placebo in patients with erythropoietic protoporphyria.[51]

Epidemiology

Rates of all types of porphyria taken together have been estimated to be approximately one in 25,000 in the United States.[52] The worldwide prevalence has been estimated to be between one in 500 and one in 50,000 people.[53]

Porphyrias have been detected in all races and in multiple ethnic groups on every continent. There are high incidence reports of AIP in areas of India and Scandinavia. More than 200 genetic variants of AIP are known, some of which are specific to families, although some strains have proven to be repeated mutations.[citation needed]

●Other Information

The epidemiology of congenital porphyrias varies depending on the specific type of porphyria. Here's a general overview:

1. **Erythropoietic Protoporphyria (EPP):** EPP is relatively rare, with an estimated prevalence of 1 to 9 cases per 100,000 individuals worldwide. It affects both males and females, typically presenting in childhood or early adulthood.

2. **Congenital Erythropoietic Porphyria (CEP):** CEP is extremely rare, with fewer than 200 cases reported worldwide. It is inherited in an autosomal recessive manner, meaning both parents must carry a mutated gene for a child to develop the condition. CEP occurs with higher frequency in certain populations, including individuals of Northern European descent.

3. **Porphyria Cutanea Tarda (PCT):** PCT is the most common form of porphyria, with an estimated prevalence of 1 to 2 cases per 10,000 individuals in the general population. It predominantly affects adults, with a higher prevalence in men than in women. PCT can be sporadic or familial and is often associated with underlying liver disease, alcohol abuse, hepatitis C infection, or certain medications.

These prevalence estimates may vary across different regions and populations, and the actual prevalence of congenital porphyrias may be underreported due to challenges in diagnosis and awareness. Additionally, advances in genetic testing and increased awareness of porphyria may lead to more accurate epidemiological data in the future.

History

The underlying mechanism was first described by the German physiologist Felix Hoppe-Seyler in 1871,[54] and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889.[55][56]

The links between porphyrias and mental illness have been noted for decades. In the early 1950s, patients with porphyrias (occasionally referred to as "porphyric hemophilia"

electroshock
therapy.

Vampires and werewolves

Porphyria has been suggested as an explanation for the origin of vampire and werewolf legends, based upon certain perceived similarities between the condition and the folklore.

In January 1964, L. Illis's 1963 paper, "On Porphyria and the

Proceedings of the Royal Society of Medicine. Later, Nancy Garden argued for a connection between porphyria and the vampire belief in her 1973 book, Vampires. In 1985, biochemist David Dolphin's paper for the American Association for the Advancement of Science, "Porphyria, Vampires, and Werewolves: The Aetiology of European Metamorphosis Legends," gained widespread media coverage, popularizing the idea.[citation needed
]

The theory has been rejected by a few folklorists and researchers as not accurately describing the characteristics of the original werewolf and vampire legends or the disease, and as potentially stigmatizing people with porphyria.[58][59]

A 1995 article from the Postgraduate Medical Journal (via NIH) explains:

As it was believed that the folkloric vampire could move about freely in daylight hours, as opposed to the 20th century variant, congenital erythropoietic porphyria cannot readily explain the folkloric vampire but may be an explanation of the vampire as we know it in the 20th century. In addition, the folkloric vampire, when unearthed, was always described as looking quite healthy ("as they were in life"), while due to disfiguring aspects of the disease, sufferers would not have passed the exhumation test. Individuals with congenital erythropoietic porphyria do not crave blood. The enzyme (hematin) necessary to alleviate symptoms is not absorbed intact on oral ingestion, and drinking blood would have no beneficial effect on the sufferer. Finally, and most important, the fact that vampire reports were literally rampant in the 18th century, and that congenital erythropoietic porphyria is an extremely rare manifestation of a rare disease, makes it an unlikely explanation of the folkloric vampire.[60]

Notable cases

  • regency crisis of 1788 has inspired several attempts at retrospective diagnosis. The first, written in 1855, thirty-five years after his death, concluded that he had acute mania. M. Guttmacher, in 1941, suggested manic-depressive psychosis as a more likely diagnosis. The first suggestion that a physical illness was the cause of King George's mental derangement came in 1966, in a paper called "The Insanity of King George III: A Classic Case of Porphyria",[61] with a follow-up in 1968, "Porphyria in the Royal Houses of Stuart, Hanover and Prussia".[62] The papers, by a mother/son psychiatrist team, were written as though the case for porphyria had been proven, but the response demonstrated that many experts, including those more intimately familiar with the manifestations of porphyria, were unconvinced. Many psychiatrists disagreed with the diagnosis, suggesting bipolar disorder as far more probable. The theory is treated in Purple Secret,[63] which documents the ultimately unsuccessful search for genetic evidence of porphyria in the remains of royals suspected to have had it.[64] In 2005, it was suggested that arsenic (which is known to be porphyrogenic) given to George III with antimony may have caused his porphyria.[65] This study found high levels of arsenic in King George's hair. In 2010, one analysis of historical records argued that the porphyria claim was based on spurious and selective interpretation of contemporary medical and historical sources.[66] The mental illness of George III is the basis of the plot in The Madness of King George, a 1994 British film based upon the 1991 Alan Bennett play, The Madness of George III. The closing credits of the film include the comment that the King's symptoms suggest that he had porphyria, and note that the disease is "periodic, unpredictable, and hereditary". The traditional argument that George III did not have porphyria, but rather bipolar disorder, is thoroughly defended by Andrew Roberts in his new biography The Last King of America.[67]
  • Descendants of George III. Among other descendants of George III theorized by the authors of Purple Secret to have had porphyria (based on analysis of their extensive and detailed medical correspondence) were his great-great-granddaughter
    Emperor William II's eldest sister) and her daughter Princess Feodora of Saxe-Meiningen. They uncovered better evidence that George III's great-great-great-grandson Prince William of Gloucester was reliably diagnosed with variegate porphyria.[68]
  • Mary, Queen of Scots. It is believed that Mary, Queen of Scots, King George III's ancestor, also had acute intermittent porphyria,[69] although this is subject to much debate. It is assumed she inherited the disorder, if indeed she had it, from her father, James V of Scotland. Both father and daughter endured well-documented attacks that could fall within the constellation of symptoms of porphyria.
  • Maria I of Portugal. Maria I—known as "Maria the Pious" or "Maria the Mad" because of both her religious fervor and her acute mental illness, which made her incapable of handling state affairs after 1792—is also thought to have had porphyria. Francis Willis, the same physician who treated George III, was even summoned by the Portuguese court but returned to England after the court limited the treatments he could oversee. Contemporary sources, such as Secretary of State for Foreign Affairs Luís Pinto de Sousa Coutinho, noted that the queen had ever-worsening stomach pains and abdominal spasms: hallmarks of porphyria.[70]
  • Vlad III Dracula, "The Impaler." Vlad III was also said to have had acute porphyria, which may have started the notion that vampires were allergic to sunlight.[71]
  • Vincent van Gogh. Other commentators have suggested that Vincent van Gogh may have had acute intermittent porphyria.[72]
  • King Nebuchadnezzar of Babylon. The description of this king in Daniel 4 suggests to some that he had porphyria.
  • Physician Archie Cochrane. He was born with porphyria, which caused health problems throughout his life.[73]
  • Paula Frías Allende. The daughter of the Chilean novelist Isabel Allende. She fell into a porphyria-induced coma in 1991,[74] which inspired Isabel to write the memoir Paula, dedicated to her.

Uses in literature

Stated or implied references to porphyria are included in some literature, particularly gothic literature. These include the following:

  • The condition is the name of the title character in the gothic poem "Porphyria's Lover," by Robert Browning.
  • The condition is heavily implied to be the cause of the symptoms suffered by the narrator in the gothic short story "Lusus Naturae," by Margaret Atwood. Some of the narrator's symptoms resemble those of porphyria, and one passage of the story states that the name of the narrator's disease "had some Ps and Rs in it." [citation needed]

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External links

Look up porphyria in Wiktionary, the free dictionary.
Retrieved from "https://en.wikipedia.org/w/index.php?title=Porphyria&oldid=1216831157"