I Have Acute Intermittent porphyria Do you have it? Would like to talk to others with this disease?
Would like to talk to others with this disease. I know it is a rare disease but it is effecting my everyday life.
Robbie, if you live in So. California, there's a good support group in this area. We meet twice a year and do our best to help each other feel less distant from other people. A rare disorder is not fun. I have VP and have experienced all kinds of mistreatment from MDs, etc. Nita (+ info
Why does acute intermittent porphyria (AIP) cause abdominal pain?
Abdominal pain is the tell-tale sign of AIP, so much so that doctors sometimes mistakenly think surgery is required! Why does AIP cause abdominal pain?
your disease causes porphyrin precursors, notably porphobilinogen and amino-levulinic acid, to be secreted and accumulate to toxic levels causing damage to nerves. this can manifest as stomach pain. much of the details of this condition is still unclear. (+ info
What is acute intermittent porphyria?
I have been suspected bout this diagnosis... Currently taking screening.. Well Dr never tell me what is all about??? Plus does it cure if getting it?? any treatment for that???
Hi Mercury, You will get all info about this disease on the following website:
You can also get more info from: http://www.porphyriafoundation.com/about_por/types/types01.html
Your doctor should definitely explain it to you if you ask him politely to. If you want to know more about it please read the above sites. I sincerely hope this helps. (+ info
How was porphyria discovered or identified. mainly acute intermittent porphyria?
please help, I can't find anything on the internet, maybe somebody can help
Hi! I have AIP and my mother did as well (the most severe case documented on record) - until it took her life in 1989. Diagnosis is EXTREMELY difficult for many complicated reasons- THAT, they won't be able to cut and paste from wikipedia! IF you are lucky, it will show up in a urine test (but usually won't unless you are in the midst of an "attack" OR your porphyria is "active" as it is usually latent or dormant between "attacks" if/until it worsens) if not they can do a stool test. In BOTH cases, it is unlikely they will show negative unless you are in the midst of an attack- AND YOU need to educate yourself on the proper handling/storage of the samples as they have to be sent to the MAYO clinic and if handled improperly will be invalid. The other way to diagnose is if you are hospitalized during an attack and respond to heme therapy. That's the way it goes unfortunately. :( good luck
uuuh oops- i read question wrong lol :P (+ info
HELP!!! My sister has Acute Intermittent Porphyria. No doctors in my area know anything about it. PLEASE HELP?
My sister got diagnosed with Acute Intermittent Porphyria about 2 days ago. I live in Pennsylvania and no doctors really know about this disease at this moment. She's been in ICU since last Wednesday and they might think it's too late for the medication. Pnuemonia took over her lungs and they aren't really improving. We are really scared right now because we don't know if it's too late to treat this rare disease. Are there any doctors or nurses or ANYONE who has come in contact with this disease? I read 1-5/100,000 people are effected by this every year. We have been trying to contact doctors from around the U.S. to help us but a lot of doctors have not even heard about it. PLEASE HELP MY FAMILY-- give us a foundation, a doctor who knows about this, anyone.. who can help my sister fighting for her life as we speak.
You have to read this...it gives you a phone number you can call
I really hope your sister can get some help. (+ info
acute intermittent porphyria need 2 find some natural rem help?
I have accute intermittent porphyria and constant stomach pain...what can i take to relieve it?
no doctor seems to be able to help me
what enzyme is deficient in acute intermittent porpharia?
acute intermittent porphyria is a autosomal dominant disorder caused by a defect in the activity of porphobilinogen deaminase enzyme.
Many case exist in latent form, but in manifest case it is more frequently seen in women. The estimated prevalence of the disorder is 5-10 case per 100,000 population. The latent form of the disease may exist indefinitely.
Certain drugs, infections, and excessive dieting (starvation) can precipitate attacks. The most common drugs are sulfonamides and barbiturates (often seen when give Phenobarbital for pain relief with dental surgery). (+ info
I am just recovering from an acute attack of porphyria.?
I know quite a bit about this disease, but I need to know more. I have a wonderful doctor, which helps. I am wondering if anyone has this disease, and if you would be willing to share your experiences with me. I would like to hear from anyone who knows about this disease. The more I read, the more frightened I become. My last attack landed me in the hospital on morphine and anti-nausea med. Now I'm home, but I still have terrible pain.
Is this it for my life? I'm sorry to be so negative, but it's hard. I have to keep my strength and faith. I'm just afraid tonight I'm having difficulty doing that. I would love to hear from you, positive or negative as it may be. I need to face this
This is from Wilkipedia, I hope it helps you. Good Luck
 Acute porphyria
Carbohydrates and heme
Often, empirical treatment is required if the diagnostic suspicion of a porphyria is high since acute attacks can be fatal. A high-carbohydrate diet is typically recommended; in severe attacks, a glucose 10% infusion is commenced, which may aid in recovery.
Hematin and haem arginate are the drugs of choice in acute porphyria, in the United States and the United Kingdom, respectively. These drugs need to be given very early in an attack to be effective. Effectiveness varies amongst individuals. They are not curative drugs but can shorten attacks and reduce the intensity of an attack. Side effects are rare but can be serious. These heme-like substances theoretically inhibit ALA synthase and hence the accumulation of toxic precursors. In the United Kingdom, supplies of this drug are maintained at two national centers. In the United States, one company manufactures Panhematin for infusion. The American Porphyria Foundation has information regarding the quick procurement of the drug.
Any sign of low blood sodium (hyponatremia) or weakness should be treated with the addition of hematin or heme arginate as these are signs of impending syndrome of inappropriate antidiuretic hormone (SIADH) or peripheral nervous system involvement that may be localized or severe progressing to bulbar paresis and respiratory paralysis.
If drugs or hormones have caused the attack, discontinuing the offending substances is essential. Infection is one of the top causes of attacks and requires vigorous treatment.
Pain is extremely severe, frequently out of proportion to physical signs and almost always requires the use of opiates to reduce it to tolerable levels. Pain should be treated early as medically possible due to its severity. Nausea can be severe; it may respond to phenothiazine drugs but is sometimes intractable. Hot water baths/showers may lessen nausea temporarily, though caution should be used to avoid burns or falls.
Patients with a history of acute porphyria and even genetic carriers are recommended to wear an alert bracelet or other identification at all times in case they develop severe symptoms or in case of accidents where there is a potential for drug exposure: a result of which may be they cannot explain to healthcare professionals about their condition and the fact that some drugs are absolutely contraindicated.
Neurologic and psychiatric issues
Patients who experience frequent attacks can develop chronic neuropathic pain in extremities as well as chronic pain in the gut. Gut dysmotility, ileus, intussusception, hypoganglionosis, encopresis in children and intestinal pseudo-obstruction have been associated with porphyrias. This is thought to be due to axonal nerve deterioration in affected areas of the nervous system and vagal nerve dysfunction.
In these cases treatment with long-acting opioids may be indicated. Some cases of chronic pain can be difficult to manage and may require treatment using multiple modalities. Opioid dependence may develop.
Depression often accompanies the disease and is best dealt with by treating the offending symptoms and if needed the judicious use of anti-depressants. Some psychotropic drugs are porphyrinogenic, limiting the pharmacotherapeutic scope.
Seizure often accompany this disease. Most seizure medications exacerbate this condition. Treatment can be problematic: barbiturates especially must be avoided. Some benzodiazepines are safe, and, when used in conjunction with newer anti-seizure medications such as gabapentin offer a possible regime for seizure control.
Magnesium sulfate and bromides have also been used in porphyria seizures, however, development of status epilepticus in porphyria may not respond to magnesium alone. The addition of hematin or heme arginate has been used during status epilepticus.
Underlying liver disease
Some liver diseases may cause porphyria even in the absence of genetic predisposition. These include hemochromatosis and hepatitis C. Treatment of iron overload may be required.
Hormonal fluctuations that contribute to cyclical attacks in women have been treated with oral contraceptives and luteinizing hormones to shut down menstrual cycles. However, oral contraceptives have also triggered photosensitivity and withdrawal of oral contraceptives has triggered attacks. Androgens and fertility hormones have also triggered attacks.
 Erythropoietic porphyrias
The skin rash that occurs in erythropoietic porphyrias generally requires use of sunscreen and avoidance of bright sunlight. Chloroquine may be used to increase porphyrin secretion in some EPs. Blood transfusion is occasionally used to suppress innate heme production (+ info
can ACUTE INTERMITENT PORPHYRIA kill you?
Short answer, yes. Some of the symptoms can lead to death. Sorry. Read the article. It's very informative. (+ info
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