Doctor insights on:
Acute Intermittent Porphyria In Children
Great question: AIP causes an axonal neuropathy which starts in proximal arms but spreads throughout limbs, and likely throughout the body. During the cramping attacks, there is an increase in delta-aminolevulinic acid and porphobiilnogen which likely stimulates abnormal nerve activity within the gut. ...Read more
Metabolic disorders caused by abnormalities in the synthesis of heme, the portion of hemoglobin which carries the iron inside red blood cells. Symptoms can range from light sensitivity to liver failure to nerve damage to bouts of terrible pain.Special testing is required to ...Read more
Hi. Are there any special instructions prior 2 submitting a random urine sample to r/o acute intermittent porphyria? Besides being symptomatic. Thanks
None that: the collecting lab won't tell you about. ...Read more
Do you have to have abdominal pain if you have acute intermittent porphyria? What are all the symptoms?
It's a mix: Acute intermitent porphyria should be suspected when mental illness, bad constipation, abdominal pain, low sodium, or a neuropathy are found without obvious explanation. Any one of these should trigger suspicion. The tests are often done wrong because of problems with collecting the specimens. ...Read more
Short answer- YES: The diagnosis of AIP should always be in the differential diagnosis of a person who becomes psychotic& who fits a certain clinical profile which usually includes vague GI symptoms and abdominal pain unexplained neuropathy, and other characteristic symptoms. Feel free to write me more questions on this topic and I'll be happy to answer: www.healthtap.com/drsaghafi ...Read more
AIP attacks: Summarized in the following link: https://www.isitaip.com/patient/common-symptoms-of-aip?gclid=CjwKEAjwse7JBRCJ576SqoD7lCkSJABF-bKuavsrIeqpmL2IbvtWeLN7qn1yRJPDCXD3KZWVAwA98xoC-Jfw_wcBGet a more detailed answer ›
Classification: Porphyria is a general term for a host of conditions, and acute intermittent porphyria is a variety of a more common variation in this disease category. ...Read more
Please consult this site for an explanation of this group of disorders.
http://www.mayoclinic.org/diseases-conditions/porphyria/basics/definition/con-20028849 ...Read more
Avoid triggers: Glucose and hematin work so-so for the acute attacks; the key to managing this treacherous illness (after making the diagnosis) is to learn what triggers the attacks and to avoid it. Sometime as simple as an old-fashioned barbiturate "to relax" can be deadly. Truly undestand the process and life can be enjoyed fully. ...Read more
Her are the symptoms:
Yes her are the other symptoms
anxiety or restlessness
severe abdominal pain
pain in your arms, legs or back
muscle pain, tingling, numbness, weakness or paralysis
high blood pressure. ...Read more
I just found out I have a genetic disorder called porphyria (acute intermittent). Am i still able to lose weight?
Yes, but carefully: Acute intermittent porpyria, or aip for short, is caused by low levels of the hmbs enzyme. Symptoms include episodes of severe abdominal pain, seizures, muscle weakness, and confusion. Aip is very rare: to lose weight, you should see an expert. Attacks can be brought on by certain drugs, alcohol, stress, infections, and not eating enough. Here is a good link - http://www.Porphyriafoundation.Com/. ...Read more
Very serious: The pain is often agonizing, the mental confusion can land the person in the mental hospital permanently, the hyponatremia can be dangerous, and even the constipation sufficient to wreck the quality of life. Management of the illness is successful only if the patient can become educated and proactive in their own care. ...Read more
Become pro-active: One of my study cases with the medical students involves an unfortunate woman whose illness was missed and was given Phenobarbital for her "nerves", with lethal results. Learn what medications and stressors to avoid. Stay fit. Good hydration and perhaps a sugary drink may help if you can sense an attack coming up; your physician will know whether to offer hematin. Best wishes. ...Read more
You'll know: I am going to assume you are diagnosed c0rrectly. A porphyria patient's first task is to be educated about the disease, especially how to avoid flareups and what medicines not to take. If the abdominal pain or strange thinking begins, or you're experienced and recognized the low blood sodium, seek acute treatment such as an infusion. Good luck. ...Read more
It is possible:
It is autosomal dominant. In addition there are 200 different mutations. The porphobilinogen deaminase gene is responsible - not providing enough to breakdown heme.
1-5 cases per 100, 000 people in the USA. ...Read more
Educate yourself: Probably there is no other illness in which patient education is so important. Read everything you can from the bona fide medical literature as the rest of your life will be largely about avoiding things that may trigger an attack. ...Read more
Acute porphyria: If the er doctor can even pronounce acute porphyria associated with your name then you must let your doctor know as this is a serious condition that needs a medical evaluation ! ...Read more
Muscle weakness can be a symptom can comes with exacerbation of acute intermittent porphyria. Fine motor skill difficulties alone is unlikely to be the result of acute porphyria. See your PCP for any concerns about fine motor skills.
Here is info on acute intermittent porphyria. http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP ...Read more
I have acute porphyria: can I do the following: take a flu shot, donate my organs, take a cat scan with the contrast?
Yes& no: Now that swine flu vaccinations have begun in some areas, members with acute porphyria (aip, vp, hcp & adp) will be relieved to know that it is fine for them to receive flu and other vaccines. In fact, since other illnesses can bring on a porphyria attack, remaining healthy is one of the most important ways to prevent acute attacks. No organ donnation?No if you allergic to idione? ...Read more
Probably not: There are different types of porphyrias and most of them are not affected by dietary manipulation. There is some evidence that a high carbohydrate diet will alleviate some of the acute attacks. All this should be coordinated through a physician who deals with this type of metabolic problem. ...Read more
Possibly: Porphyria symptoms can include depression, confusion, hallucinations & delusions. These symptoms are most likely to occur during an acute attack. Other symptoms that one may experience during an attack could also affect thinking & memory. For examply, nausea & pain may decrease one's ability to concentrate, thereby affecting memory & attention span. ...Read more
Not easy !: Porphyria is on of the most difficult diagnosis to make. The tests are quite specialized. Talk to an internist or endocrinologist who has experience with this diagnosis. ...Read more
A rare disease: Porphyria is a very rare disease due to a problem is the production of porphoryin which become part of the hem molecule that eventually gets placedinto the hemoglobin to make red blood cells. The disease can cause skin problem abdominalmpain and other problems. ...Read more
See below: Pct is one of the hepatic porphyrias. Large amounts of porphyrins build up in the liver when the disease is becoming active. The disease becomes active when acquired factors, such as iron, alcohol, hepatitis c virus (hcv), hiv, Estrogens (used, for example, in oral contraceptives and prostate cancer treatment) and possibly smoking, combine to cause a deficiency of urod in the liver. ...Read more
Might occur: Some variants of porphyria can affect the liver and cause abnormal liver testing. You can get answers by analyzing your urinary and serum porphyrin levels, and this could allow interventional approaches to bring under full control. ...Read more