porhpyria

[Barbara144]

My father has Accute Intermittent Porphyria and I have had many years of bowel symptoms including constipation diarrhea bloating, I have also had my galbladder removed, it was swollen and only functioning 20%.  I have bouts of severe fatigue sweats with the feeling of passing out usually followed by diarrhea and stomach pain and also nausea.  My urine is not the orange color I hear is neccessary to confirm prohyria but it does get dark at times and totally clear other times. I also have muscle pain and a feeling of weakness at times and my muscles become very restless at night I have had times during these attacks where I find it difficult to think straight and say what I,m thinking, could this be Porphyria and what type of doctor should I see to be tested?

[bscdon]

With escalating unexplained symptoms and after seeing too many doctors, hospitalizations and an unnecessary surgery I was finally diagnosed with AIP (acute intermittent porphyria) about 25years ago. By necessity for self preservation I have become relatively knowledgeable about AIP.

I am not a medical professional and I strongly agree with all of the disclaimers on this site about medical advice – i.e. seek a trusted professional. Having said that, the classical symptom for AIP is belly pain and from firsthand experience it is often severe. This and virtually all of the other symptoms that you describe are very similar to what I have experienced with AIP. AIP is classified as a rare disease (depending upon the source, in the USA it affects about 2 or 3 people out of 100,000). The symptoms can mimic many other diseases and maladies and AIP is often misdiagnosed.

Since it is an inherited condition (it usually does not present symptoms even if you have it)  you should investigate who else in your family tree might have shown similar conditions or poor health.  An MD who specializes in AIP can come from one of several disciplines with most of them (in my experience) being Hematologists. There are a few different non evasive  tests for AIP,  the most recent being  genetic ones. Now days you can find a lot of information about all of the Porphyrias on the WEB and a good place to start would be the American Porphyria Foundation site: http://www.porphyriafoundation.com/. If it turns out that you have AIP be comforted by the fact that nowadays the prognosis with certain drug avoidance and a proper diet is most often a positive one.

Good luck!

[greenmtgirl]

Read about DNA testing for porphyria on the American Porphyria Foundation website (www.porphyriafoundation.com).  The DNA testing is considered the gold standard for porphyria.  

I am about to have some tests for acute intermittent porphyria.  I found a couple doctors (research scientists) on the foundation's website who will work with my primary care physician - give directions for tests, interpret results, and give guidance for care.  By the way my father had MS, but as I'm learning more about prophyria, I strongly suspect that he had this rare disorder.  He died at the age of 43.

Good luck.

[Dr. A. Srivastava]

Thank you for your question. Although without being able to examine you I can not offer you the specific advice on diagnosis and treatment that you need, but I would try to provide you some relevant information about your health.

Although your symptoms could be suggestive of acute intermittent porphyria, it is essential that you thoroughly evaluate the symptoms with the doctor to rule out other health conditions. It is essential to evaluate & treat the recurrent infection & stomach pain. In addition, only carbohydrate diets will be suggested to prevent further aggravation of the condition. If you suffer continuous pain & infection, please arrange an appointment with a doctor right away who will evaluate & treat the possibilities here. Further referral to a specialist could be advised if a probable diagnosis will be made here. If it is diagnosed with in time the better will be the survival chances. Hope this helps.

[StormyRenee]

Wow! I have not come across ant one who even knows what it is.
Porphyria runs in my family. The last relative to have it was my great uncle. It seems to skip a generation in my family. I was tested for it too when I started having all sorts of neurological and gastrointestinal problems.I had both urine and blood tests done.It took forever to get the results. They were negative.But I was told that even though they were negative  that does not mean that I dont actually have it. I guess somtimes if your not in the middle of an acute attack your tests will be negative.

My neurologist is thinking I may have MS.I have numerous brain lesions and symptoms from head to toe.But he always still mentions the porphyria.

You want to bypass your gp and head straight to a hematologist.They specialize in rare blood disorders.
Take Care, Theresa