WELCOME

Welcome to "the Porphyria forum", a website designed to give you the basic information you need to know as you research this usually manageable disease. If you are new to Porphyria, or if you are just doing research on the latest findings, the latest research, and the latest group of online friends that serve as a support group -- well you are likely to find a listing here.

For the absolute latest information and Porphyria findings, please visit :
the Porphyria blog

What is Porphyria ? What Are The Porphyrias ?
Acute intermittent porphyria is a particularly severe form of porphyria which results from a deficiency of porphobilinogen deaminase. In common with the other acute porphyrias the clinical course is one of clinical latency followed by an acute episode following a precipitating event. The main clinical features of an attack are gastrointestinal disturbance and neuropsychiatric disorders. Acute intermittent porphyria is an autosomal dominant deficiency in porphobilinogen deaminase. This results in an excessive production of the haem precursors aminolevulinic acid (ALA) and porphobilinogen (PBG). Most individuals remain clinically latent until a precipitating factor triggers an acute attack. Porphobilinogen deaminase is an enzyme used in haem synthesis; its deficiency results in acute intermittent porphyria.

What are the "precipitating factors" ?
The most common precipitants are drug ingestion, alcohol consumption, and endogenous and exogenous steroid hormonal factors. AIP, VP and HCP may be precipitated by:

• alcohol

• drugs, especially barbiturates, and sulphonamides; enzyme inducing anticonvulsants, for example carbamazepine, phenytoin, phenobarbitone, primodone, oral contraceptive pill; also, diphenylhydantoin, rifampicin, chlordiazepoxide, griseofulvin and ergots.

• fluctuations in female sex hormones may also precipitate acute porphyrias

• infections

• starvation

Clinical features are similar to those seen in lead poisoning (abdominal pain, constipation or vomiting, peripheral neuropathy, confusion or psychosis, tachycardia, hypertension).

Medications and drugs are often the worst triggers. For a comprehensive list of contraindicated drugs consult one of the safe/unsafe drug lists in the Links area of this page. Here is a list of the most commonly used unsafe medications: alcohols, barbiturates, sulphonamides, carbamazepine, phenytoin, rifampicin, pyrazinamide, chlordiazepoxide, griseofulvin, ergot, imipramine, meprobamate, lead poisoning

How common is Porphyria ?
Acute intermittent porphyria rarely presents before puberty. Females are affected slightly more than males; 1.5 to 2.0:1. The incidence in most parts of the world is 1.5 per 100,000; rates in Sweden are 1 per 100,000.

What are the symptoms / clinical features of AIP ?
Generally, the clinical features of AIP relate to the autonomic nervous system. There are acute attacks characterised by:

• respiratory failure - bulbar paresis

• motor neuropathy in acute intermittent porphyria

• cerebellar signs may develop

• hypothalamic dysfunction - inappropriate ADH secretion

• hyponatremia - from inappropriate ADH, or GI or renal sodium loss

• patients with AIP often have psychiatric disturbances, particularly with features of delerium - confusion, agitation, disorientation and hallucinations

• syndrome of inappropriate antidiuretic hormone secretion

• systemic hypertension

• postural hypotension

• cerebellar signs

• confusion

• agitation

• hallucinations

• severity and frequency of attacks varies widely between individuals

• autonomic neuropathy: abdominal pain: in 80-90% of cases; diffuse or localised; often intermittent and spastic, constipation, vomiting, hypertension, postural hypotension, peripheral neuropathy, localized pain to a complete generalised flaccid paralysis
  

What investigation should be done if Porphyria is suspected?

• biochemistry - hyponatraemia, hypomagnesaemia and hypovolaemia may occur during acute attacks

• definitive test is porphobilinogen deaminase in erythrocytes which is decreased by 50%

• urine - usually normal colouration when fresh but becomes brown, red or black on standing; marked increase in porphobilinogen (PBG); slightly elevated coproporphyrin and uroporphyrin

• stool - coproporphyrin and protoporphyrin normal

• liver function tests - sulfobromophthalein retention

• increased serum cholesterol, serum iron and T4

• hyperbetalipoproteinemia

• abnormal glucose tolerance

What is the Ehrlich Aldehyde Test ?
Ehrlich's aldehyde test is used to confirm a diagnosis of acute intermittent porphyria. Ehlich's aldehyde reagent consists of p-dimethyl amino benzaldehyde in acid solution. Equal volumes of urine and Ehrlich's reagent are mixed. If a pink colour is formed this indicates a raised urinary concentration of either porphobilinogen or urobilinogen. In cases of raised porphobilinogen, as in acute intermittent porphyria, the pink precipitate is observed to be insoluble in chloroform.

Is there a treatment for my Acute Intermittent Porphyria ?
Currently, there is no specific treatment. Avoidance of precipitating factors is advised. Glucose loading and haematin infusion have some benefit but haematin may cause transient renal insufficiency and coagulopathy. Specific symptoms should be treated during an attack.

What does the APF say about all this?
"AIP is a rare disease that is inherited from one parent. It is almost always latent (i.e. does not produce illness) in childhood and is usually latent in most adults throughout life. When the disorder is active it can cause intermittent attacks of abdominal pain as well as a variety of other symptoms which range from mild to life threatening. After the correct diagnosis of AIP is made, simple precautions can be taken to prevent attacks. It is important to check all relatives of porphyria patients for the genetic defect, so they can take the same precautions and avoid becoming ill from porphyria. Even relatives who have never had symptoms should be tested."

So what does all this mean ?
That is an oversimpilization of our disease and attacks, and it's intended to give you the "medical mumbo-jumbo that might inmpress your friends or doctors or emergency technicians. In reality, only YOU can truly describe this illness as each case presents a variety of symptoms that magnify in one person, and hide-away and never to be seen in other people.

You would be doing yourself a great favor by sitting down during one of your lucid moments and list all the physical and mental troubles you experience due to Porphyria. Always keep that for future use. And that is also the day that you should start a brief journal about Porphyria. List all your daily activities (difficulties doing them), medications taken, what were your limitations, what was your pain scale (and what hurt), were you hampered from doing chores, miss work/school/church, etc ... In other words, list everything about your health and your Porphyria. That will be a basis for a great Porphyria journal that you can later share with your doctor, an insurance company, or the SSA and it's disability board.

Keep in mind the goal of this page is to prevent Porphyria attacks, especially those "life threatening attacks". Hopefully you will find useful information at this site, including the links on this page.

Facts you probably didn't know...
Type II does not show up in the blood serum.In other words the PBG-deamanase which in Type I will be diminished by 50% wil be normal in Type II and Type III.

Type III is known to have some cutaneous elements with itching and rash of the skin.

Type II has been referred to as "pseudo" cutaneous.....whatever that is supposed to mean.

14% without the diminished PBG_D  do have skin problems along with the CNS symptoms.

NUTRITIONAL GUIDELINES FOR PORPHS...
The following dietary guidelines are recommended for Porphyrics...

• Energy intake should be prescribed at a level to maintain a desirable body weight.

• Carbohydrate intake should be 55 to 60 percent of total energy intake.

• Protein intake should follow the RDA. (Recommended daily allowance.) This may be increased in elderly subjects, and reduced if there is kidney impairment.

• Total fat intake should be less than 30 percent of total calories. (Particularly in individuals with high blood cholesterol levels, saturated fat should be less than 10 percent of total energy intake, polyunsaturated fat 6 to 8 percent, and the remainder monounsaturated fat.)

• Cholesterol intake should be less than 300 milligrams per day.

• Artificial sweeteners are acceptable.

• Salt intake need not be restricted unless it is important for controlling hypertension. (The management of hypertension (high blood pressure) may include salt restriction. This is not discussed here because most patients with porphyria do not have persistent hypertension.)

• Intakes of vitamins and minerals should meet the RDAs. Porphyria is NOT due to a vitamin deficiency! It can NOT be cured with vitamins.

• Calcium intake in women should be at least one gram daily.

• Iron intake should be adequate to avoid iron deficiency. Women with heavy menstrual blood loss and patients who have had frequent blood drawings due to illness and hospitalization may require greater intakes of iron. (Iron is a component of heme. Iron deficiency can compromise heme synthesis and may exacerbate porphyria. Therefore, iron deficiency should be avoided in porphyria. Early iron deficiency occurs before there is anemia (low blood count). Early iron deficiency can be detected by tests such as serum iron and iron-binding capacity, and serum territin.)

• Alcoholic beverages should be avoided. Alcohol stimulates the heme biosynthetic pathway in the liver and can itself exacerbate porphyria. Alcohol has other harmful effects and can lead to weight gain. Some experts feel that small amounts of alcohol are not harmful in porphyria while others feel that even small amounts should be avoided.
  

• Fiber intake should be about 40 grams per day, but should not be increased above 50 grams per day. (A high-fiber diet may increase the requirements for calcium, iron and trace minerals. High dietary fiber intakes should be avoided in patients with upper gastrointestinal problems (abnormalities in the esophagus or stomach) because sometimes excess fiber can accumulate in the form of "bezoars." Increasing dietary fiber intake sometimes causes abdominal cramping, diarrhea and flatulence. These can be minimized by increasing fiber intake gradually.)

• Foods contain many natural chemicals that can stimulate the heme biosynthetic pathway. Although none have been definitely linked to attacks of porphyria, the possibility that these chemicals might contribute should be kept in mind especially when attacks of porphyria recur in the absence of a definite inciting factor. Some of the dietary factors that might have an adverse effect on porphyria include charcoal-broiled meats (which contain chemicals similar to those found in cigarette smoke), certain vegetables (such as cabbage and brussel sprouts which may contain chemicals that in large amounts can stimulate heme and porphyrin synthesis), and high intakes of protein. Probably, none of these foods need to be completely avoided in porphyria. However, it is important to consume a well-balanced diet and not to consume any particular type of food in excess. (The best way to maintain a well-balanced diet is to learn to eat a variety of foods from what are commonly referred to as the four major food groups. Detailed advice on how to do this should be sought from a dietitian.)

• Food intake should be consistent, but should take into account lifestyle and physical activity.

• The total daily energy intake should be distributed consistently with at least three regular meals each day.

• Total energy intake must be individualized, because it varies with age, sex, and body weight, and is affected by physical activity. (Dietitians employ standard methods to estimate daily energy requirements. One of these methods is the Harris-Benedict equation.) It can also be greatly altered by illness.

• Nutritional management of acute attacks of porphyria:

  Intravenous administration of glucose (a pure form of carbohydrate) is part of the standard treatment of acute attacks of porphyria. Glucose is given by vein because the stomach and intestine usually do not function properly during an attack, and material taken by mouth is not properly propelled through these organs. Glucose and other carbohydrates can repress the pathway for synthesis of herne in the liver. As a result, the overproduction of prophyrin precursors and porphyrins is repressed by carbohydrate administration. Heme therapy (intravenous administration of hematin or heme arginate) has a similar but much more potent effect, and probably leads to more rapid improvement. Therefore, heme rather than glucose is becoming more accepted as initial therapy for an acute attack. However, it is still important to administer glucose and other nutrients. Particularly if an acute attack is severe or prolonged, sufficient glucose can be given by vein to meet the total energy requirements of a patient. This is best accomplished by a catheter that is inserted into a large central vein. Additional nutrients, including vitamins, minerals, amino acids and fat can be given in the required amounts to maintain all requirements. Provision of total nutritional needs in this manner by vein is commonly called "total parenteral nutrition". After recovery from an attack a high carbohydrate regimen should be prescribed, as described above.

• More Nutritional & Dietary Info Porphyrics...
  
  Fasting or dieting is not permitted in people who have porphyria, as it can provoke an acute attack.
  
  The extra intake of sugar or glucose that is required to cure an acute attack may lead to a problem of overweight. Dieting should be avoided.
  
  A diet should be rich in fiber as constipation is a common complication for people suffering from porphryia.
  
  Bran should be included daily, 3 tbsp is a suitable quanity. It can be taken with a glass of water or added to milk, pancake batter, bread, waffle batter, minced meat, or Juice. 3 tbsp. of bran is about 20 calories.
  
  The remains of insecticides plus heavy metal toxins are stored in the liver. Eating liver should be avoided especially from wild game and poultry.
  
  In order to avoid insecticides in green vegetables and root vegetables, always peel and rinse them properly. Potatoes should be peeled before cooking.
  
  Only fruits that are not sprayed should be eaten without peeling, peel all other fruits.
  
  It is recommended that you avoid all alchoholic beverages, including those with low alcohol content. You should also avoid cooking, baking or marinating foods with products that contain alcohol, because they leave trace amounts behind on your food.
  
  Taking strong spices in excess effect some people with porphyria in negative ways.
  
  It is recommended to consume 6-8 (8oz) glasses of water along with other beverages high in glucose per day. (gatorade and other sport drinks are great sources of beverages high in glucose) -- also see recipe below.
  
  Fruit and Veggies that produce high alkaline urine are recommended for someone with porphyria.
  
  For an acute attack, extra carbs as in sugar or glucose are required. Some suggestions of this are as follows:
         a) 4 lumps of sugar per hour
         b) glucose tablets
         c) ready prepared glucose solutions
         d) gatorade or other high glucose beverages
         e) fruit pectin (nectar) drinks
         f) caffeine-free soft drinks ( gingerale)
  
  NOTE: other suggestions are routinely offered and may be helpful ! Recent suggesstion of D-50 bolus push at the hospital in addition to normal IV glucose have been highly recommended and are highly encouragable. Discuss this with your doctor and possibly have standing orders at your local ER if needed.
  
  NOTE2: Without a doubt, get diet counseling. Ask your doc for a prescription and it will probably be covered by your insurance or government medical assistance.
  

OTHER IMPORTANT PORPHYRIA LINKS AND INFORMATION: