Prevention
These diseases may also cause the spleen to become enlarged, which can make anemia worse. People with acute porphyria have an increased chance of developing high blood pressure and chronic kidney disease, which can lead to kidney failure . What are the symptoms of porphyrias?
Symptoms
The symptoms of acute porphyria can develop quickly and last for days or weeks. You might have an imbalance of salt in your body along with this type of porphyria. The symptoms can include: Belly pain, often severe. Chest pain. Faster heart rate and higher blood pressure. Limb and back pain.
Causes
One common type of cutaneous porphyria, known as porphyria cutanea tarda, is sometimes passed through genes but can also be what doctors call an "acquired disease.". In that case, certain conditions or actions can trigger symptoms of porphyria. These triggers can be things like:
Complications
These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver.
Can porphyria cause high blood pressure?
How do you know if you have porphyria?
Can porphyria be passed down?
How are porphyria and blood disorders inherited?
What disease makes you crave blood?
People with porphyria experience the desire to drink human blood to alleviate their symptoms (the genetic disease causes abnormalities in a person's hemoglobin, a protein found in red blood cells), declared biochemist David Dolphin.
What is an obsession with blood called?
We propose the term "hemomania" to describe an impulse control disorder characterized by impaired functioning due to at least one of the following urges: seeing one's own blood, self-bloodletting, and tasting/drinking one's own blood.
What are the symptoms of vampires?
From avoiding sunlight to using a cloak, here are five classic vampire characteristics that exist in the natural world.Drinking blood. The primary characteristic of a vampire is feeding on blood. ... Immortality. ... Avoiding sunlight. ... Heightened senses. ... Morphing.
What disease did Dracula have?
Romanian prince Vlad III of Wallachia, popularly known as Vlad Dracula, is famous for his aversion to sunlight – a trait that gave rise to vampire legends. Like many myths, vampirism is partly based on fact; specifically, a rare blood disorder called porphyria.
What happens if I drink blood everyday?
Drinking human or animal blood can pose health risks such as severe diseases and foodborne illnesses. While consuming very small amounts of animal blood, such as in rare or medium-rare steak, is not likely to cause harm, there is still a concern for foodborne illness. Safe food handling and cooking are recommended.
Can you survive off drinking blood?
Because humans did not evolve such an iron-extracting mechanism, drinking blood can kill us. If you're thinking of sampling human blood, make sure there's a doctor handy — for you, not your victim.
How do you identify an energy vampire?
Energy vampires are friends, family members or coworkers who literally zap your emotional energy. Here's how to avoid getting sucked dry. They leave you feeling drained after every conversation. They want your nonstop attention and the conversation is always about them.
How do I know if I am an energy vampire?
Your Own Energy Is Depleted Just like a vampire who's been unable to feed, you'll notice you feel drained yourself once you've exhausted the energy of those around you. Their avoidance of you will leave you unable to suck their energy anymore — and you'll feel the consequences.
What is porphyria vampire disease?
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.
How do you get porphyria?
Most forms of porphyria are inherited. Porphyria can occur if you inherit: A defective gene from one of your parents (autosomal dominant pattern) Defective genes from both parents (autosomal recessive pattern)
Did Vlad the Impaler have porphyria?
Similarly, some speculate that Vlad III, prince of Wallachia, had porphyria based on his psychiatric symptoms and his aversion to sunlight. (You probably know him as Vlad the Impaler or Vlad Dracula, the inspiration for Bram Stoker's “Dracula.”) Treatment for acute porphyria was unavailable until the 20th century.
When was porphyria discovered?
In 1889, Dr. B.J. Stokvis described the clinical syndrome as "porphyria," and from then on more and more forms of the syndrome were discovered. All the versions of porphyria have one thing in common: they each result from faults in the bodys heme-building machinery.
What are the 4 types of OCD?
OCD can manifest in four main ways: contamination/washing, doubt/checking, ordering/arranging, and unacceptable/taboo thoughts. Obsessions and compulsions that revolve about contamination and germs are the most common type of OCD, but OCD can cover a wide range of topics.
What is OC disorder?
Obsessive-compulsive disorder (OCD) is a disorder in which people have recurring, unwanted thoughts, ideas or sensations (obsessions) that make them feel driven to do something repetitively (compulsions).
Is there a mental disorder for being obsessed?
“Obsessive love disorder” (OLD) refers to a condition where you become obsessed with one person you think you may be in love with. You might feel the need to protect your loved one obsessively, or even become controlling of them as if they were a possession.
Is Obsession a mental illness?
Overview. Obsessive-compulsive disorder (OCD) is a common, chronic, and long-lasting disorder in which a person has uncontrollable, reoccurring thoughts ("obsessions") and/or behaviors ("compulsions") that he or she feels the urge to repeat over and over.
What is a porphyria?
What are porphyrias? Porphyrias are a group of rare inherited blood disorders. People with these disorders have problems making a substance called heme in their bodies. Heme is made of body chemicals called porphyrin, which are bound to iron.
What is the most common symptom of variegate porphyria?
Sun sensitivity including blistering skin is the most common skin symptom of Variegate porphyria (VP). Acute attacks of VP often begin with abdominal pain. VP is more common in South Africa in people of Dutch ancestry with up to 3 in 1,000 people in the white population affected. Reports suggest.
What is a hepatoerythropoietic porphyria?
Hepatoerythropoietic porphyria (HEP) is the autosomal recessive form of familial porphyria vutanea tarda (f-PCT) and presents with similar symptoms. Skin sensitivity to light often leads to severe blistering, sometimes with mutilation or loss of fingers or facial features. Skin symptoms usually begin in infancy.
What are the two types of porphyria?
There are several types of porphyria, which are classified into two categories: hepatic. erythropoie tic. Hepatic forms of the disorder are caused by problems in the liver. They’re associated with symptoms such as abdominal pain and problems with the central nervous system.
Why does my urine turn red?
Severe abdominal pain is present in all types, as well as urine that’s reddish-brown in color. This is caused by the buildup of porphyrins and typically occurs after an attack.
Where is heme found?
Heme is also found in myoglobin, a protein in the heart and skeletal muscles. The body goes through several steps to make heme. In people with porphyria, the body lacks certain enzymes needed to complete this process.
Is porphyria a genetic disease?
Porphyria is a genetic disease. According to the National Institutes of Health (NIH), most types of porphyria are inherited from an abnormal gene, called a gene mutation, from one parent.
How do doctors diagnose porphyrias?
Your doctor will ask about your medical history and symptoms and perform a physical exam. If a doctor suspects you may have porphyria, he or she will order tests to diagnose the disease.
What are the symptoms of cutaneous porphyria?
People with cutaneous porphyria may develop skin symptoms—such as blistering or pain —after their skin is exposed to sunlight.
What are the types of porphyria?
Experts often divide porphyrias into two groups— acute porphyrias and cutaneous porphy rias—based on whether they primarily affect the nervous system or the skin.
How do doctors prevent and treat complications of porphyria?
Depending on the type of porphyria you have, your doctor may recommend steps to prevent or treat complications.
How common are porphyrias?
Porphyrias are rare diseases. Studies suggest that all types of porphyrias combined affect fewer than 200,000 people in the United States. 1
How long does porphyria last?
Symptoms of acute porphyria can be mild or severe, lasting days or weeks. Times when symptoms occur are called attacks. Without early treatment, symptoms of an attack may become more severe and even life-threatening. Symptoms may include
When does cutaneous porphyria occur?
Among types of cutaneous porphyria, porphyria cutanea tarda most often develops in people older than age 40, usually men. 2 For other types of cutaneous porphyria, symptoms often appear in early childhood.
How to diagnose porphyria?
Porphyrias may also be classified by whether the liver or bone marrow is affected. Diagnosis is typically made by blood, urine, and stool tests. Genetic testing may be done to determine the specific mutation. Treatment depends on the type of porphyria and the person's symptoms.
How to treat porphyria?
Treatment depends on the type of porphyria and the person's symptoms. Treatment of porphyria of the skin generally involves the avoidance of sunlight, while treatment for acute porphyria may involve giving intravenous heme or a glucose solution. Rarely, a liver transplant may be carried out.
How are porphyrias inherited?
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 genes that make heme. They may be inherited in an autosomal dominant, autosomal recessive, or X-linked dominant manner. One type, porphyria cutanea tarda, may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS. The underlying mechanism results in a decrease in the amount of heme produced and a build-up of substances involved in making heme. Porphyrias may also be classified by whether the liver or bone marrow is affected. Diagnosis is typically made by blood, urine, and stool tests. Genetic testing may be done to determine the specific mutation.
Why does porphyria cutanea tarda cause heme?
The underlying mechanism results in a decrease in the amount of heme produced and a build-up of substances involved in making heme.
What is the most severe form of PCT?
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.
What are the symptoms of porphyria?
Two distinct patterns of skin disease are seen in porphyria: 1 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. 2 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.
What drugs can cause porphyria?
Such drugs include: Sulfonamides, including sulfadiazine, sulfasalazine and trimethoprim/sulfamethoxazole.
Overview
History
Signs and symptoms
Cause
Pathogenesis
Diagnosis
The underlying mechanism was first described by Felix Hoppe-Seyler in 1871, and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889.
The links between porphyrias and mental illness have been noted for decades. In the early 1950s, patients with porphyrias (occasionally referred to as "porph…
Management
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), …
Epidemiology
The porphyrias are generally considered genetic in nature.
Subtypes of porphyrias depend on which enzyme is deficient.
X-linked dominant protoporphyria is a rare form of erythropoietic protoporphyria caused by a gain-of-function mutation in ALAS2 characterized by severe photosensitivity.
In the autosomal recessive types, if a person inherits a single gene they may become a carrier. G…