What is Porphyria (Vampire Disease) ?

What is Porphyria?

Porphyria arises due to genetic mutations that disrupt the production of heme. This disruption leads to a buildup of porphyrins, chemical precursors to heme, in the body. These accumulated porphyrins can cause damage to various organs, leading to a diverse range of symptoms. There are eight different types of porphyria, each classified by the specific enzyme deficiency and the resulting symptoms.

Symptoms and Sun Sensitivity:

The symptoms of porphyria vary depending on the type and severity of the condition. However, some common symptoms across different types include:

• Severe abdominal pain
• Nausea and vomiting
• Neurological problems, like seizures and muscle weakness
• Skin sensitivity to sunlight

It's important to note that not all types of porphyria cause sun sensitivity. The type often associated with sunlight sensitivity is Porphyria Cutanea Tarda (PCT). People with PCT experience increased fragility and blistering of the skin upon sun exposure.

Types of Porphyria :

Porphyria is divided into two main types: acute porphyria and cutaneous porphyria.

Acute Porphyria:

Acute porphyrias strike suddenly, primarily affecting the nervous system, with some impact on the skin. In all cases, there's a buildup of porphyrins in the liver. The specific types include:

1.     1. Acute intermittent porphyria
2.     2. ALAD (delta-aminolevulinic acid dehydratase deficiency) porphyria
3.     3. Hereditary coproporphyria
4.     4. Variegate porphyria
5. 
   

6. Cutaneous Porphyria:

   Cutaneous porphyrias mainly involve the skin, where porphyrins typically accumulate in the liver or bone marrow. These types are:

1.     1. Porphyria cutanea tarda
2.     2. Congenital erythropoietic porphyria
3.     3. Hepatoerythropoietic porphyria
4.     4. Protoporphyria, including erythropoietic protoporphyria and X-linked protoporphyria

Porphyria Cutanea Tarda is the most common type, responsible for about 20% of cases, while *Acute Intermittent Porphyria* is the most common among acute porphyrias.

 Symptoms of Porphyria:

One common symptom across porphyrias is the presence of red, brown, or purple urine. However, symptoms vary between acute and cutaneous porphyrias.

Symptoms of Acute Porphyria:

Symptoms appear rapidly and can be severe, lasting days to weeks with varying intensity. Main symptoms include:

• Red or brown urine
• Abdominal pain, chest pain, back pain, or pain in extremities
• Nausea, vomiting
• Constipation, diarrhea
• Anxiety, confusion, hallucinations, paranoia, disorientation
• Urinary retention or incontinence
• Muscle weakness, paralysis
• Seizures
• Breathing problems
• Palpitations
• High blood pressure

 Symptoms of Cutaneous Porphyria:

Cutaneous porphyria symptoms are chronic, lasting a long time and varying in intensity. Main symptoms occur with sunlight exposure and include:

• Red or brown urine
• Sunlight sensitivity: pain, burning, stinging, redness, swelling, and itching
• Blisters on exposed skin (except in erythropoietic protoporphyria and X-linked protoporphyria)
• Fragile skin
• Infected blisters
• Scarring
• Changes in skin color
• Excessive hair growth in affected areas

Debunking the Myth:

While the sun sensitivity in some types of porphyria may have contributed to certain vampire folklore, it's crucial to dispel the misconception that these conditions share all the characteristics of vampires. Vampires are fictional creatures with supernatural abilities, including an aversion to sunlight, an inability to consume human food, and extended lifespans. These do not translate to the realities of porphyria, which are real medical conditions with specific, manageable symptoms.

Living with Porphyria:

While there is no cure for porphyria, various treatments can manage the symptoms and improve the quality of life for individuals affected. These treatments can include:

What Causes It?

Porphyria is mostly caused by our genes acting up. When there are changes (mutations) in the genes that control the enzymes responsible for making heme, it messes up the whole heme production process. This process involves at least 8 enzymes, and if anything goes wrong at any step, it can lead to a buildup of porphyrins or their precursors, potentially causing porphyria. Each type of porphyria is linked to a different enzyme in this production process.

Genes and Inheritance

These disorders are passed down through families. This means the gene mutations causing porphyria can be inherited from one or both parents, or even from the X chromosome. The way it's passed down can be autosomal dominant (from one parent), autosomal recessive (from both parents), or x-linked. Check out our infographic for a simple explanation of these inheritance modes.

Famous Cases of Porphyria: 

One well-known case of porphyria involves King George III of Great Britain and Ireland, who ruled from 1760 to 1820. This diagnosis came about in 1966, long after his death, when medical records were examined by Macalpine and Hunter. They also discovered that porphyria ran in the royal family, tracing back to Mary Queen of Scots and her son, James VI of Scotland and I of England.

King James, in particular, had documented instances of wine-colored urine. This diagnosis helped dispel the notion of madness in the royal bloodline, although not everyone agreed. Some suggested arsenic poisoning as an alternative cause. However, evidence supporting the presence of porphyria surfaced in a descendant of King George III, Princess Charlotte of Prussia (1860-1919). Additionally, a more recent member of the Windsor family, Prince William of Gloucester (1941-1972), a grandson of King George V, was also diagnosed with porphyria.

Conclusion:

Porphyria is a group of real and complex medical conditions. While it's important to raise awareness about these conditions, it's equally important to dispel myths and misinformation surrounding them. Understanding the true nature of porphyria allows for better support and care for individuals living with these conditions.