It seems likely that this disorder is the origin of the vampire myth. In fact, porphyria is sometimes referred to as the “vampyre disease.” Consider the symptoms of patients with porphyria: Sensitivity to sunlight: Extreme sensitivity to sunlight, leading to facial disfigurement, blackened skin and hair growth.
Sensitivity to the sun and sometimes artificial light, causing burning pain in the skin. Sudden painful skin redness and swelling. Blisters on exposed skin, usually the hands, arms and face. Fragile thin skin with changes in skin color.
Porphyria occurs when the body cannot convert compounds called 'porphyrins' into heme. Porphyria can affect the skin, nervous system, gastrointestinal system or all of these, depending on the specific type. Currently, there is no cure, but medical treatment and lifestyle changes can usually manage the symptoms.
Famous cases have been linked to porphyria, such as Prince William of Gloucester, a paternal cousin of the present British Queen Elizabeth II. As such he also descended from King George III. Historians long hypothesized that his madness may have been due to an undiagnosed family history of porphyria.
Can Inbreeding Lead to Porphyria? Porphyria is a genetic disorder; that is, the inheritance of the faulty mutation can lead to the disease. Inbreeding can increase the chance for such genetic mutations to be passed on to future generations as the gene pool remains shallow.
Patients with porphyria generally have a normal life expectancy. However, those with acute hepatic porphyria are at increased risk of developing high blood pressure, chronic kidney disease, and hepatocellular carcinoma (liver cancer), which may reduce their lifespan.
These disorders are usually inherited, meaning they are caused by gene mutations link passed from parents to children. If you have porphyria, cells fail to change chemicals in your body—called porphyrins and porphyrin precursors—into heme, the substance that gives blood its red color.
The Acute Porphyrias
These mutations have been found in all races and many other ethnicities in addition to Europeans.
The main dietary advice for persons with Porphyria Cutanea Tarda is to avoid all alcohol in any form. In addition, adherence to a low iron diet with avoidance of any medicinal iron and with ingestion of limited amounts of liver or red meat, is recommended, at least until remission of active PCT has been achieved.
If you have congenital erythropoietic porphyria (CEP) or hepatoerythropoietic porphyria (HEP), you may have reddish-brown staining on your teeth as a result of porphyrin accumulation. Because of this, you might want veneers, crowns, or facings, all part of cosmetic dentistry, to cover such discoloration.
Because genetic mutations cause most types of porphyria, the disorder can't be prevented. However, you can avoid triggers that may cause symptoms. These triggers include smoking, alcohol consumption, and exposure to sunlight.
Gross examination of the urine can provide a valuable clue, since urine of porphyria cutanea tarda patients is red to brown in natural light and pink to red in fluorescent light.
Porphyria is important in psychiatry as it may present with only psychiatric symptoms; it may masquerade as a psychosis and the patient may be treated as a schizophrenic person for years; the only manifestation may be histrionic personality disorder which may not receive much attention.
Some medical historians have said that George III's mental instability was caused by a hereditary physical disorder called porphyria.
These include, but are not limited to, certain anesthetics, antihistamines, antiepileptics, antihyperglycemics (like those used to treat diabetes), some antibiotics, and some heart medicines. Sex hormone treatments for women, such as implanted or injected contraceptives, can also cause acute porphyria attacks.
Variegate porphyria
Attacks typically begin with severe abdominal pain, although they can sometimes start with pain in the chest, back, or thighs. Nausea, vomiting, and constipation often accompany these attacks. VP occurs more frequently in South Africa and among people of Dutch ancestry.
Although there are well-known factors that might trigger an AIP attack, some studies also showed an association of COVID-19 with porphyria. These studies suggest that the accumulation of by-products in the heme synthesis pathway during COVID-19 infection may cause attacks mimicking acute intermittent porphyria.
The most commonly reported debilitating symptoms are diffuse severe pain affecting the abdomen, back, or limbs; other common attack signs and symptoms include nausea and vomiting, constipation, hypertension, motor weakness, insomnia, or anxiety [1–3, 5].
Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation awareness among neurologists is low and delayed diagnosis and misdiagnosis are common.
Treatment may include: Injections of hemin (Panhematin), a medicine that is a form of heme, to limit your body's production of porphyrins. Receiving fluid that contains sugar, also called glucose, through a vein, or sugar taken by mouth, if able. This is done to make sure you get enough carbohydrates.
Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.
You can also find information about the treatment of your type of Porphyria under your specific type. The American Porphyria Foundation (APF) promotes comprehensive care necessary for treating individuals with Porphyria. Although there is no cure for Porphyria, there is treatment available for each type of the disease.
Diagnostic Recommendations
"Think porphyria" in patients with abdominal pain that is unexplained after an initial workup has excluded common causes such as appendicitis, cholecystitis, pancreatitis, etc.