Porphyria: King Goerge's Disease. Legend Of The Vampire
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What is porphyria?
Although uncommon, some people have heard of porphyria because it is thought to have affected the English royal family
hundreds of years ago and may explain the madness of King George III. However, this paints an unfair picture of
porphyria that rarely causes such extreme illness.
What causes it?
Porphyrins are naturally involved in the production of haem - a molecule that is vital in red blood cells for carrying
oxygen. The process involves converting two substances known as porphyrin precursors through a series of steps into
haem.
Each step is controlled by a particular protein enzyme. But in porphyria there is a deficiency of these enzymes and so
the process is blocked and porphyrins (and their precursors) accumulate to toxic levels in the body.
Porphyria may be inherited or acquired during life. There are at least seven types of porphyria. Each is due to a
slightly different enzyme deficiency and tends to show a different pattern of symptoms and problems.
Most types of porphyria are due to an inherited enzyme defect but some (including the commonest, PCT) develop during
life. Drug treatments are one of the major causes of acquired porphyria, but are also a major trigger of acute attacks
in inherited porphyria.
Acute or non-acute?
Top tips
There is no cure for porphyria but careful control of trigger factors means that most people lead a normal life.
If someone in your family has porphyria, bear in mind that mild symptoms may be mistaken for other problems and so the
diagnosis of porphyria may be missed in other family members.
All the genetic problems causing porphyria have now been identified, and genetic testing for carriers can now be done.
The different types of porphyria are usually classified into two groups - acute or non-acute.
Acute porphyria
People with acute porphyria experience episodes of pain and disruption of the nervous system that may develop very
rapidly, over several hours, and may be severe, causing a wide range of symptoms throughout the body.
Acute intermittent porphyria (AIP) (also called Swedish porphyria): The most severe type, inherited in a dominant
fashion (each child of an affected parent has a 50 per cent chance of inheriting it). Attacks may be triggered by
factors such as drugs and medicines, alcohol, dieting, and hormonal changes.
Variegate porphyria (VP) (also called South African genetic porphyria): There may be skin symptoms as well as acute
attacks.
Hereditary coproporphyria (HC): There may be skin photosensitivity as well as acute attacks.
ALAD-deficiency porphyria (also called plumboporphyria or PP): Very rare.
Non-acute porphyrias
In non-acute porphyrias the primary problem is with the skin.
Porphyria cutanea tarda (PCT, cutaneous hepatic porphyria, or symptomatic porphyria): The most common type of
porphyria. Acquired during life, probably as a result of factors including alcohol, iron, oestrogens and hepatitis
infections that combine to cause an enzyme deficiency in the liver.
Erythropoietic protoporphyria (EPP or erythrohepatic porphyria): An inherited porphyria which causes skin problems
(although the liver may be involved in later life).
Congenital porphyria (CP, Gunther's disease or erythropoietic porphyria): Inherited in a recessive fashion (i.e. both
parents carry the gene but have no symptoms) this is extremely rare and may cause severe skin problems.
Medicines can trigger an attack
A large number of medicines, including many commonly used drugs such as certain antibiotics or sleeping pills, may
precipitate an acute attack of porphyria. In general:
People with porphyria should only take medication when absolutely necessary.
Never take a new medicine unless you've checked it can be safely taken in your condition.
Be careful even with simple treatments brought over the counter such as vitamins or herbal therapies, until you are
sure about possible reactions.
If you need an operation make sure you warn the doctor that you have porphyria before the anaesthetic.
What happens in an acute attack?
An acute attack is triggered when levels of porphyrins and porphyrin precursors escalate. This may be due to drugs that
interfere with porphyrin metabolism in the body, alcohol, smoking, infection and reduced calorie intake. Pregnancy may
also trigger an attack as hormone levels change, while some women have regular attacks prior to their periods.
Symptoms may develop over hours or days and include abdominal pain, stomach cramps, nausea, vomiting and constipation.
There may be pain elsewhere in the body, especially in the back and limbs, and muscle weakness.
In extreme cases there may be heart palpitations and a rapid heartbeat, high blood pressure, anxiety, confusion,
seizures and paralysis. An acute attack of porphyria can be fatal (although this is very rare these days). Severe
attacks need to be treated in hospital but mild attacks may be very mild and even go unnoticed or be misdiagnosed.
Skin problems
There may be a variety of skin problems in porphyria. Sensitivity to sunlight plays a key part. In PCT, VP and HC, skin
exposed to light (such as hands, feet and face) becomes fragile and develops blisters and sores. The skin may be easily
damaged, and even the slightest knock causes it to break open, while healing is slow.
These changes tend to develop during adult life. Chronic damage leads to thin, darkened and scarred skin which may
become unusually hairy.
In EPP and CP the skin problems start in early childhood and tend to be more severe. Reaction to the sun is swift, with
burning and stinging occurring soon after exposure.
Avoiding the sun, and protecting the skin from injury, is essential for people with these types of porphyria.
Meticulous skin care can reduce long-term damage. It's vital in PCT to avoid triggers such as alcohol or certain
medicines (eg oestrogens in the contraceptive pill). Treatment using venesection (removal of a unit of blood at regular
intervals) may also help in PCT.
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Alternative names
Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic
protoporphyria
Definition Return to top
Porphyrias are a rare group of disorders passed down through families in which an important part of hemoglobin, called
heme, does not develop properly. Heme is also found in myoglobin, a protein found in certain muscles.
Causes, incidence, and risk factors
Normally, the body breaks down chemicals, called porphyrins, into heme. The porphyrins leave the body through urine or
stools. But persons with porphyria have a genetic defect that interrupts this process. As a result, porphyrins build up
in the body. This can lead to rashes, light sensitivity, abdominal pain, and other symptoms.
There are many different forms of porphyria. The most common type is porphyria cutanea tarda.
Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.
Symptoms
Porphyrias involve three major symptoms:
Abdominal pain or cramping (occurs in only some forms of the disease)
Light sensitivity causing rashes (photodermatitis)
Problems with the nervous and muscular systems
Attacks can occur suddenly, usually with severe stomach pain followed by vomiting and constipation. Being out in the
sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with
scarring or skin color changes, and may be disfiguring. Urine may become red or brown following an attack.
Other symptoms that may occur include:
Muscle pain
Muscle weakness or paralysis
Numbness or tingling
Pain in the arms or legs
Pain in the back
Personality changes
Acute attacks can sometimes be life threatening, producing severe electrolyte imbalances, low blood pressure, and
shock.
Signs and tests
Your doctor will perform a physical exam, which includes listening to your heart. You may have an irregular heartbeat
called tachycardia. The doctor may find that your deep tendon reflexes (knee jerks) do not work properly.
Blood and urine tests may reveal kidney problems or other problems. The PROTO blood test can measure porphyrins in the
blood.
Some of the other tests that may be done include:
Blood gases
BUN
Enzyme assay for specific porphyrins and other chemicals linked to this condition
Creatinine clearance
Serum creatinine
Serum potassium
Urinalysis
Treatment
Some of the medicines used to treat a sudden (acute) attack of porphyria may include:
Hematin given through a vein (intravenously)
Pain medication
Sedatives to help you feel sleepy and less anxious
Propranolol to control the heart beat
Other treatments may include:
Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins
Phlebotomy (removal of blood)
Beta-carotene supplements
Depending on the type of porphyria you have, your doctor may tell you to:
Avoid all alcohol
Avoid drugs that may trigger an attack
Avoid injuring the skin
Avoid sunlight as much as possible and use sunscreen when outside
Eat high-carbohydrate diet
Expectations (prognosis)
Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than
others. Proper treatment and avoidance of triggers can help reduce the time between attacks.
Complications
Coma
Gallstones
Lung failure
Loss of movement (paralysis) that gets worse
Scarring of the skin
Calling your health care provider
Seek medical attention as soon as you have signs of an acute attack. Talk to your doctor about your risk for this
condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to
sunlight.
Prevention
Genetic counseling may be of benefit to prospective parents with a family history of any type of porphyria.
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Prophyria mainly influence on the nervous system. Porphyria symptoms are commonly are stomach pains, sickness, mental
instability, neuropathy. Sometimes there are are deppresions, abnormal agressy, hallucinations, paranoya. Due to the
fact, thet autonomic nervous system is influenced by the disease, an additional symptoms can develop too. Such as
tachycardia and cardiac arrhythmias. In some cases pain can be very harsh and can be a combination of acute and
chronic. Sometimes also happens diarrhea and constipation. This happens because the nervous system of the gut is also
affected. Porphyria symtoms may be rather different, it depends on the type of a porphyria.
We have the list of porphyria symtoms. It is a compilation from different sources and include almost all well-known and
proved symtoms.
Cramps
Changes of an urine color
Paralysis
Nerve system disorders
Tingleing
Skin disorders
Mental upsets
Gastroenteritis
Change of personality
Blisters
Itches
Constipation
Skin became hypersensitive to sunlight
Vomiting
Pains in a chest area
Muscle deadness
Abdominal pain
Pain in back
Limb pains
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Treatment:
Patients diagnosed with porphyria cutanea tarda (PCT) are screened for other diseases. They may be treated with
phlebotomy (blood collection) to reduce body iron stores and/or receive other treatments to decrease photosensitivity
of the skin. Specialists advise PCT patients to wear protective clothing and use sunscreen at all times to reduce skin
damage. PCT affects about 80 percent of patients with porphyria. It is the most common non-acute porphyria and by far
the most common porphyria.
Although acute intermittent porphyria (AIP) is the most common acute porphyria, it is still quite rare. It usually
affects women between 20 and 40 years old and men between 30 and 50. Because patients with an acute attack of AIP can
rapidly develop a life-threatening illness, physicians often recommend hospitalization. While being monitored in the
intensive care unit, patients may be treated with intravenous fluids, a high-carbohydrate diet, and medications that
suppress porphyrin production.
Mayo Clinic participates in clinical trials studying rare pediatric forms of porphyria, which can involve bone marrow
transplantation. Gene therapy research for the complex of porphyria disorders is also underway.
Treatment for hepatic porphyria depends on the type. However, for both cutaneous and acute porphyria, the first step of
therapy involves identifying and eliminating the precipitating factors, including alcohol, certain medication, excess
iron, etc.
Cutaneous Porphyria -- For patients with cutaneous porphyria whose iron levels are high, iron depletion is recommended.
This involves removing the excess iron from the body by drawing your blood, usually a pint at a time in regular
intervals. This is done in the same way in which blood is drawn from donors at blood banks. When the body replenishes
the blood, it draws iron from storage sites such as the liver. Repeated over time, this process eventually eliminates
the excess iron and leads to reduced porphyrin levels and improved sun tolerance.
Acute Porphyria -- The best form of treatment for acute porphyria is prevention. Therefore, your family members should
be tested, to identify those who are also at risk of having an acute attack. When acute porphyria progresses despite
elimination of triggering factors, hospitalization is necessary. Specific treatment involves administration of
intravenous hematin, which compensates for the genetic deficiency.
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Pics:
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All the text is copied from these websites...
http://www.ucsfhealth.org/adult/medical_services/liver/porphyria/conditions/porphyria/treatments.html
http://www.mayoclinic.org/porphyria/treatment.html
http://www.ucsfhealth.org/adult/medical_services/liver/porphyria/conditions/porphyria/signs.html
http://www.nlm.nih.gov/medlineplus/ency/article/001208.htm
http://www.bbc.co.uk/health/conditions/porphyria1.shtml
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