Porphyria

Porphyria is a group of diseases in which substances

called porphyrins build up, negatively affecting the skin
Porphyria
or nervous system.[1] The types that affect the nervous
system are also known as acute porphyria, as symptoms
are rapid in onset and last a short time.[1] Symptoms of
an attack include abdominal pain, chest pain, vomiting,
confusion, constipation, fever, high blood pressure, and
high heart rate.[1][2][4] The attacks usually last for days to
weeks.[2] Complications may include paralysis, 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]
Left figure is urine on the first day while the right
Most types of porphyria are inherited from one or both of
a person's parents, and are due to a mutation in one of the figure is urine after three days of sun exposures
genes that make heme.[2] They may be inherited in an showing the classic change in color to purple.
autosomal dominant, autosomal recessive, or X-linked Pronunciation /pɔːrˈfɪriə/ or /pɔːrˈfaɪriə/
dominant manner.[1] One type, porphyria cutanea tarda,
may also be due to increased iron in the liver, hepatitis C, Specialty Hematology, dermatology,
alcohol, or HIV/AIDS.[1] The underlying mechanism neurology
results in a decrease in the amount of heme produced and Symptoms Depending on subtype–
a build-up of substances involved in making heme.[1] abdominal pain, chest pain,
Porphyrias may also be classified by whether the liver or vomiting, confusion,
the bone marrow is affected.[1] Diagnosis is typically constipation, fever, seizures,
made by blood, urine, and stool tests.[2] Genetic testing blisters with sunlight[1][2]
may be done to determine the specific mutation.[2]
Usual onset Recurrent attacks that last
Treatment depends on the type of porphyria and a days to weeks[2]
person's symptoms.[2] The treatment of porphyria of the Causes Usually genetic[2]
skin generally involves the avoidance of sunlight.[2] The
Diagnostic Blood, urine, and stool tests,
treatment for acute porphyria may involve giving
method genetic testing[2]
intravenous heme or a glucose solution.[2] Rarely, a liver
transplant may be carried out.[2] Differential Lead poisoning, alcoholic liver
diagnosis disease[3]
The precise frequency of porphyria is unclear but it is
Treatment Depends on type and
estimated that it affects between 1 and 100 per 50,000
symptoms[2]
people.[1] Rates vary around the world.[2] Porphyria
cutanea tarda is believed to be the most common type.[1] Frequency 1 to 100 in 50,000 people[1]
The disease was described as early as 370 BC by
Hippocrates.[5] The underlying mechanism was first described by Felix Hoppe-Seyler in 1871.[5] The name
porphyria is from the Greek πορφύρα, porphyra, meaning "purple", a reference to the color of the urine that
may occur during an attack.[5]
Contents
Signs and symptoms
Acute porphyrias
Chronic porphyrias
Cause
Genetics
Triggers
Pathogenesis
Diagnosis
Porphyrin studies
Additional tests
Management
Acute porphyria
Erythropoietic porphyria
Epidemiology
History
Vampires and werewolves
Notable cases
References
External links

Signs and symptoms

Acute porphyrias

The acute porphyrias are 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 A skin rash in a person with
episodic crises known as acute attacks. The major symptom of an porphyria
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.

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.[6]
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.

Cause
The porphyrias are generally considered genetic in nature.

Genetics

Subtypes of porphyrias depend on which enzyme is deficient.

 Type of
Porphyria type Deficient enzyme Inheritance Symptoms Prevalence
porphyria
X-linked Rare; about
5-aminolevulinate
dominant X-linked Photosensitivity,
(ALA) synthase Erythropoietic 50 cases
protoporphyria dominant cirrhosis[7]
(ALAS) reported[8]
(XLDPP)

Aminolevulinate Extremely
dehydratase rare; fewer
5-aminolevulinate Autosomal Abdominal pain,
deficiency Hepatic than 10
dehydratase (ALAD) recessive[9] neuropathy[9] cases ever
porphyria
(ALADP) reported.[10]

Hydroxymethylbilane Periodic abdominal

synthase (HMBS) pain, peripheral 1 in
Acute intermittent Autosomal
formerly Hepatic neuropathy, 10,000[11]–
porphyria (AIP) dominant[9] psychiatric disorders,
porphobilinogen 20,000[11]
deaminase (PBGD) tachycardia[9]
Severe
photosensitivity with
Congenital 1 in
uroporphyrinogen Autosomal erythema, swelling
erythropoietic Erythropoietic 1,000,000
synthase (UROS) recessive[9] and blistering.
porphyria (CEP)
Hemolytic anemia, or less.[12]
splenomegaly[9]
Approximately
80%
Porphyria uroporphyrinogen
sporadic,[13] Photosensitivity with 1 in
cutanea tarda decarboxylase Hepatic
(PCT) (UROD)
20% vesicles and bullae[9] 10,000[14]
Autosomal
dominant[9]

Hereditary Photosensitivity,
coproporphyrinogen Autosomal 1 in
coproporphyria Hepatic neurologic
oxidase (CPOX) dominant[9] 500,000[14]
(HCP) symptoms, colic[9]
Jaundice, anemia, Extremely
Autosomal enlarged liver and rare; fewer
coproporphyrinogen
Harderoporphyria Erythropoietic spleen, often than 10
oxidase (CPOX) recessive[9]
neonatal. cases ever
Photosensitivity later. reported.
1 in 300 in
Photosensitivity, South
Variegate protoporphyrinogen Autosomal neurologic Africa[14]
Hepatic
porphyria (VP) oxidase (PPOX) dominant[15] symptoms, 1 in 75,000
developmental delay in
Finland[16]
Photosensitivity with 1 in
Erythropoietic
Ferrochelatase Autosomal skin lesions.
protoporphyria Erythropoietic 75,000[14]–
(FECH) dominant[9] Gallstones, mild liver
(EPP) 200,000[14]
dysfunction[9]

In the autosomal recessive types, if a person inherits a single gene they may become a carriers. Generally
they do not have symptoms, but may pass the gene onto offspring.[17]

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:[18][19][20]
 Sulfonamides, including sulfadiazine, sulfasalazine and trimethoprim/sulfamethoxazole.
Sulfonylureas like glibenclamide, gliclazide and glimepiride, although glipizide is thought to be
safe.
Barbiturates including thiopental, phenobarbital, primidone, etc.
Systemic treatment with antifungals including fluconazole, griseofulvin, ketoconazole and
voriconazole. (Topical use of these agents is thought to be safe due to minimal systemic
absorption.)
Certain antibiotics like rifapentine, rifampicin, rifabutine, isoniazid, nitrofurantoin and, possibly,
metronidazole.
Ergot derivatives including dihydroergotamine, ergometrine, ergotamine, methysergide, etc.
Certain antiretroviral medications (e.g. indinavir, nevirapine, ritonavir, saquinavir, etc.)
Progestogens
Some anticonvulsants including: carbamazepine, ethosuximide, phenytoin, topiramate,
valproate.
Some painkillers like dextropropoxyphene, ketorolac, metamizole, pentazocine
Some cancer treatments like bexarotene, busulfan, chlorambucil, estramustine, etoposide,
flutamide, idarubicin, ifosfamide, irinotecan, ixabepilone, letrozole, lomustine, megestrol,
mitomycin, mitoxantrone, paclitaxel, procarbazine, tamoxifen, topotecan
Some antidepressants like imipramine, phenelzine, trazodone
Some antipsychotics like risperidone, ziprasidone
Some retinoids used for skin conditions like acitretin and isotretinoin
Miscellaneous others including: cocaine, methyldopa, fenfluramine, disulfiram, orphenadrine,
pentoxifylline, and sodium aurothiomalate.

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

The body requires porphyrins to produce heme,

which is used to carry oxygen in the blood
among other things, but in the porphyrias there
is a deficiency (inherited or acquired) of the
enzymes that transform the various porphyrins
into others, leading to abnormally high levels of Heme synthesis—note that some reactions occur in the
cytoplasm and some in the mitochondrion (yellow)
one or more of these substances. Porphyrias are
classified in two ways, by symptoms and by
pathophysiology. Physiologically, porphyrias are
classified as liver or erythropoietic based on the sites of accumulation of heme precursors, either in the liver
or in the bone marrow and red blood cells.[21]

Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme. Heme
function plays a central role in cellular metabolism. This is not the main problem in the porphyrias; most
heme synthesis enzymes—even dysfunctional 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).
There are eight enzymes in the heme biosynthetic pathway, four of which—the first one and the last three—
are in the mitochondria, while the other four are in the cytosol. Defects in any of these can lead to some
form of porphyria.

The hepatic porphyrias are characterized by acute neurological attacks (seizures, psychosis, extreme back
and abdominal pain, and an acute polyneuropathy), while the erythropoietic forms present with skin
problems, usually a light-sensitive blistering rash and increased hair growth.

Variegate porphyria (also porphyria variegata or mixed porphyria), which results from a partial deficiency
in 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.

Diagnosis

Porphyrin studies

Porphyria is diagnosed through biochemical analysis of blood, urine, and stool.[12][22] In general, urine
estimation of porphobilinogen (PBG) is the first step if acute porphyria is suspected. As a result of feedback,
the decreased production of heme leads to increased production of precursors, PBG being one of the first
substances in the porphyrin synthesis pathway.[23] In nearly all cases of acute porphyria syndromes, urinary
PBG is markedly elevated except for the very rare ALA dehydratase deficiency or in patients with
symptoms due to hereditary tyrosinemia type I.[24] 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.[25]

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.

Up to 90% of the genetic carriers of the more common, dominantly inherited acute hepatic porphyrias (acute
intermittent porphyria, hereditary coproporphyria, variegate porphyria) have been noted in DNA tests to be
latent for classic symptoms and may require DNA or enzyme testing. The exception to this may be latent
post-puberty genetic carriers of hereditary coproporphyria.

As most porphyrias are rare conditions, general hospital labs typically do not have the expertise, technology,
or staff time to perform porphyria testing. In general, testing involves sending samples of blood, stool, and
urine to a reference laboratory.[12] All samples to detect porphyrins must be handled properly. Samples
should be taken during an acute attack; otherwise a false negative result may occur. Samples must be
protected from light and either refrigerated or preserved.[12]

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

Additional tests

Further diagnostic tests of affected organs may be required, such as nerve conduction studies for neuropathy
or an ultrasound of the liver. Basic biochemical tests may assist in identifying liver disease, hepatocellular
carcinoma, and other organ problems.
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 dextrose 10% infusion
is commenced, which may aid in recovery by suppressing heme synthesis, which in turn reduces the rate of
porphyrin accumulation. However, this can worsen hyponatraemia and should be done with extreme caution
as it can prove fatal.[26]

Heme analogs

Hematin (trade name Panhematin) and heme arginate (trade name NormoSang) are the drugs of choice in
acute porphyria, in the United States and the United Kingdom, respectively. These drugs need to be given
very early in an attack to be effective; effectiveness varies amongst individuals. They are not curative drugs
but can shorten attacks and reduce the intensity of an attack. Side effects are rare but can be serious. These
heme-like substances theoretically inhibit ALA synthase and hence the accumulation of toxic precursors. In
the United Kingdom, supplies of NormoSang are kept at two national centers; emergency supply is available
from St Thomas's Hospital, London.[27] In the United States, Lundbeck manufactures and supplies
Panhematin for infusion.[28]

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

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.

Cimetidine

Cimetidine has also been reported to be effective for acute porphyric crisis and possibly effective for long-
term prophylaxis.[29]

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.

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.[30]

Neurologic and psychiatric disorders

Patients who experience frequent attacks can develop chronic neuropathic pain in extremities as well as
chronic pain in the abdomen.[31] 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.[32]

Seizures often accompany this disease. Most seizure medications exacerbate this condition. Treatment can
be problematic: barbiturates especially must be avoided. Some benzodiazepines are safe and, when used in
conjunction with newer anti-seizure medications such as gabapentin, offer a possible regimen for seizure
control. Gabapentin has the additional feature of aiding in the treatment of some kinds of neuropathic
pain.[32] Magnesium sulfate and bromides have also been used in porphyria seizures; however, development
of status epilepticus in porphyria may not respond to magnesium alone. The addition of hematin or heme
arginate has been used during status epilepticus.[33]

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.[34]

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.[35]

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.[36]

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. In 2019, givosiran was approved in the United States for the
treatment of acute hepatic porphyria.[37][38]

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 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.[12]
Blood transfusion is occasionally used to suppress innate heme production.
The rarest is congenital erythropoietic porphyria (C.E.P.), otherwise known as Gunther's disease. The signs
may present from birth and include severe photosensitivity, brown teeth that fluoresce in ultraviolet light due
to deposition of Type 1 porphyrins, and later hypertrichosis. Hemolytic anemia usually develops.
Pharmaceutical-grade beta carotene may be used in its treatment.[39] A bone marrow transplant has also
been successful in curing CEP in a few cases, although long-term results are not yet available.[40]

In December 2014, afamelanotide received authorization from the European Commission as a treatment for
the prevention of phototoxicity in adult patients with EPP.[41]

Epidemiology
Rates of all types of porphyria taken together have been estimated to be approximately one in 25,000 in the
United States.[42] The worldwide prevalence has been estimated to be between one in 500 and one in 50,000
people.[43]

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.

History
The underlying mechanism was first described by Felix Hoppe-Seyler in 1871,[44] and acute porphyrias
were described by the Dutch physician Barend Stokvis in 1889.[45][46]

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"[47]) and severe symptoms of depression
or catatonia were treated with 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 Aetiology of Werewolves," was published in
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.

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.[48][49]

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.[50]

Notable cases
King George III. The mental illness exhibited by George III
in the 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",[51] with a follow-up in 1968, "Porphyria in the
Royal Houses of Stuart, Hanover and Prussia".[52] 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,[53] which documents the ultimately unsuccessful
search for genetic evidence of porphyria in the remains of George III in his coronation robes
royals suspected to have had it.[54] In 2005, it was
suggested that arsenic (which is known to be
porphyrogenic) given to George III with antimony may
have caused his porphyria.[55] 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.[56] 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
notes that the disease is "periodic, unpredictable, and
hereditary".
Mary, Queen of Scots c. 1578.
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 Princess Charlotte of Prussia (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.[57]
 Mary, Queen of Scots. It is believed that Mary, Queen of Scots, King George III's ancestor, also
had acute intermittent porphyria,[58] 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.[59]

Vlad III. Vlad III was also said to have had acute porphyria,
which may have started the notion that vampires were
allergic to sunlight.[60]
Maria I of Portugal in a c. 1790s
Vincent van Gogh. Other commentators have suggested that portrait attributed to Giuseppe
Vincent van Gogh may have had acute intermittent Troni or Thomas Hickey.
porphyria.[61]
King Nebuchadnezzar of Babylon. The description of this king in Daniel 4 suggests to some
that he had porphyria.[62]

Physician Archie Cochrane. He was born with porphyria, which caused health problems
throughout his life.[63]
Paula Frías Allende. The daughter of the Chilean novelist Isabel Allende, she fell into a
porphyria-induced coma in 1991,[64] which inspired Isabel to write the memoir Paula,
dedicated to her.

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External links
Porphyria (https://curlie.org/Health/Conditions_and_Diseases/Nutritional_and_Metabolic_Disor
ders/Inherited/Porphyrias/) at Curlie
The Drug Database for Acute Porphyria - comprehensive database on drug porphyrinogenicity
(http://www.drugs-porphyria.org/)
Orphanet's disease page on Porphyria (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=
EN&Expert=738.0)
Classification ICD-10: E80.0 (htt D
ps://icd.who.int/bro
wse10/2019/en#/E8
0.0)-E80.2 (https://i
cd.who.int/browse1
0/2019/en#/E80.2) ·
ICD-9-CM: 277.1 (h
ttp://www.icd9data.c
om/getICD9Code.a
shx?icd9=277.1) ·
MeSH: D011164
D011164, D011164
(https://www.nlm.ni
h.gov/cgi/mesh/201
5/MB_cgi?field=uid
&term=D011164,)
External MedlinePlus:
resources 001208 (https://ww
w.nlm.nih.gov/medli
neplus/ency/article/
001208.htm) ·
Patient UK:
Porphyria (https://p
atient.info/doctor/po
rphyrias) ·
Orphanet: 738 (http
s://www.orpha.net/c
 onsor/cgi-bin/OC_E
xp.php?lng=en&Exp
ert=738)

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