If you've spent the last week binging "Queen Charlotte: A Bridgerton Story" you're likely well-versed in the complicated (and steamy!) love between Queen Charlotte and King George III. But this high society "Bridgerton" prequel unravels a lot more than romance, power, and gossip. It tells the tale of class and marriage, while also exploring the tormenting illness of King George III, which at least some experts believe to be porphyria.
That's right: while "Queen Charlotte" is a fictionalised retelling of the story of Charlotte and George, the actual King George III did have some medical issues and at one point they were suspected to be caused by porphyria, an extremely rare genetic disease that the British Porphyria Association says is estimated to affect one in 75,000 people in the UK. (But it can be asymptomatic, so some people with it may be undiagnosed.) The disorder is usually inherited from a parent, and is caused by high levels of a naturally occurring chemical in the body known as porphyrins. This leads to negative symptoms primarily affecting the skin and nervous system.
At this point, however, the idea that King George III suffered from porphyria is pretty widely contested. The diagnosis first came up in the 1960s, when two psychiatrists claimed that his medical records showed that he had the condition. But over the years, other research indicated that in King George III's case, porphyria was a misdiagnosis, and he may instead have been dealing with bipolar disorder, reports the journal Clinical Medicine. But even so, the show has reignited interest in porphyria. Here, everything you need to know about the liver disorder, including its symptoms, how it's diagnosed, and whether it's treatable.
What Is Porphyria?
Porphyria describes a group of eight rare genetic disorders that affect the skin and nervous system as a result of a buildup of natural chemicals called porphyrins, according to the Cleveland Clinic. Porphyrins are naturally found in the body and are needed to make heme, which is a molecule necessary to make haemoglobin (a protein found in red blood cells). If the body has too many porphyrins it can be detrimental, the Mayo Clinic notes.
There are also two main types of porphyrias. Acute porphyrias start rapidly and mainly affect the nervous system, while cutaneous porphyrias (such as porphyria cutanea tarda, the most common type of all porphyrias) mainly attack the skin. A few types of porphyrias can affect both the nervous system and skin, but it's less common.
What Are the Symptoms of Porphyria?
The symptoms of porphyria depend on the individual and type, but symptoms can range from mild to severe, per the Cleveland Clinic.
Those living with cutaneous types of porphyria (which primarily affects the skin), often have an oversensitivity to sunlight and experience itching, blisters or abrasions on the skin, scarring, fragile skin, and extreme swelling or irritation when exposed to the sun.
Acute porphyrias typically cause a sudden onset of symptoms that usually last hours, days, or weeks, according to the Cleveland Clinic. Common symptoms include pain in the abdomen, chest, arms, legs, or back, urinary retention (the inability to empty your bladder completely), constipation, nausea, vomiting, muscle weakness, seizures, confusion, and hallucinations.
Some porphyria patients, whether acute or cutaneous, may also have a reddish-purple or brown coloured urine due to the presence of excess porphyrins.
How Is Porphyria Treated?
Porphyria can be difficult to diagnose since many symptoms resemble other diseases and disorders, but it's typically diagnosed through blood, urine, and stool samples, or a DNA genetic test, according to the American Porphyria Foundation.
There is no cure or way to prevent porphyria, but there are treatments and symptom management techniques, which depend on the type and severity of symptoms. For those with cutaneous porphyrias, avoiding sunlight is key and doctors may recommend eliminating substances that often trigger symptoms, such as alcohol. Some people may also benefit from frequent blood draws, known as therapeutic phlebotomy, which reduces the amount of iron in the liver and can minimise symptoms.
Treatment for acute porphyrias typically involves heme and/or glucose infusions through an IV, which decrease the number of porphyrins produced in the liver, according to the Cleveland Clinic. For more severe cases, treatment may also include blood transfusions, surgery to remove the spleen, or liver and bone marrow transplants.
Some studies also suggest that maintaining a balanced diet and reducing carbohydrate intake can minimise symptoms. Smoking should also be completely avoided.
Famous People With Porphyria
The exact number of people who have porphyria is unknown, but some research suggests that one in every 20,000 people may have some type of the condition. And while it's not always confirmed that historical figures were officially diagnosed porphyria, a common case (aside from King George III) has been linked to Prince William of Gloucester, a cousin of Queen Elizabeth II.
Mary, Queen of Scots, and her father, James V of Scotland, are also believed to have had acute porphyria since they were ancestors of King George III and inherited the disease.
Some research also suggests Vincent van Gogh had acute porphyria since it accounts for all signs and symptoms of his underlying physical and mental illnesses.