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Doctor insights on: Which Doctors Treat Porphyria

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Dr. Aletha Tippett
93 Doctors shared insights

Porphyria (Definition)

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


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My doctor diagnosed me with porphyria but the porphyria expert said I did not have it.  why would this happen and should I be retested?

My doctor diagnosed me with porphyria but the porphyria expert said I did not have it.  why would this happen and should I be retested?

Porphyria: Testing for porphyria can be very tricky. General medicine doctors can sometimes have difficulty interpreting the test results correctly. If a porphyria expert says you don't have it, that's most likely true. Another option would be to see a different porphyria expert. ...Read more

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What is “latent” porphyria?   if my doctor told me that I have “latent” porphyria, does this mean that I will never have any symptoms?

What is “latent” porphyria?   if my doctor told me that I have “latent” porphyria, does this mean that I will never have any symptoms?

Porphyria: It depends on what type of porphyria we're talking about. Some porphyrias can be dangerous, and some can be hereditary so you need to be more specific about what type you're worried about so that you can get appropriate advice from your physician. Lots of information can be found on the website for the american porphyria foundation at www. Porphyriafoundation. Com. ...Read more

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Where can I find a porphyria expert?   what other type of doctor can diagnose me properly and what type of specialist should I see if I have porphyria.  

Where can I find a porphyria expert?   what other type of doctor can diagnose me properly and what type of specialist should I see if I have porphyria.  

Porphyria: The doctor that usually takes care of porphyria is a hematologist. The american porphyria foundation will be able to provide you with a list of experts in your area. ...Read more

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When must I call my doctor if the ER said I have acute porphyria?

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

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I took a urine test and the doctor called back and said I have sugar in my urine, what does this mean. I am a 26 year old male who has common variable immuno deficiency and I may have propheryia or an auto immune disease, does sugar in the urine indictae

I took a urine test and the doctor called back and said I have sugar in my urine, what does this mean. I am a 26 year old male who has common variable immuno deficiency and I may have propheryia or an auto immune disease, does sugar in the urine indictae

Most: Most people don't have sugar in their urine until their blood sugar is 250mg/dl or more. But
some people will have sugar in their urine with normal blood levels of glucose. This is called renal glycosuria. It usually has little clinical significance. If your fasting blood sugar is elevated, you may have diabetes. If a blood glucose is done concurrently with finding sugar in your urine, you can sort out if you are just one of those people who spill sugar into the urine at normal blood glucose levels or if you may be diabetic. This should be checked out soon, especially if you are experiencing excessive thirst or frequent urinination. ...Read more

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How is acute porphyria usually treated?

How is acute porphyria usually treated?

Supportive care: Glucose and hematin derivatives can be used to manage the acute attacks. The key to treatment is patient education -- it's a lifetime of learning to avoid the triggers and becoming more familiar with the illness than a physician specialist. ...Read more

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How is porphyria cutanea tarda treated?

How is porphyria cutanea tarda treated?

See below: Pct is the most treatable of the porphyrias. Treatment seems to be equally effective in familial and non-familial pct. Factors that tend to activate the disease should be removed. The most widely recommended treatment is a schedule of repeated phlebotomies (removal of blood), with the aim of reducing iron in the liver. This actually reduces iron stores throughout the body. ...Read more

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What kind of specialist diagnoses and treats different types of porphyria?

What kind of specialist diagnoses and treats different types of porphyria?

Porphyria: See a neurologist or a dermatologist at a university teaching hospital. ...Read more

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What is porphyria and how can it be treated?

What is porphyria and how can it be treated?

Dermatology: Group of 8 different inherited disorders in which enzymes responsible for heme synthesis are deficient or absent. As a result, porphyrins are produced, accumulates in tissues, excreted in urine, stool. S/s: nausea, vomiting/constipation, abd. Pain, muscle weakness, seizure, photosensitivity, scar, anemia, etc.
Rx: adequate nutrition, hydration, avoid sunlight/some drugs/alcohol. Follow mds advise. ...Read more

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I have lymphedema and my doctors told me it was treatable. Where can I go to find more info. On lymphedema?

I have lymphedema and my doctors told me it was treatable. Where can I go to find more info. On lymphedema?

Lymphedema: I would investigate the topic on the Internet, as there are numerous patient focused websites dealing with this issue. ...Read more

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Hi doctors, was just wondering what is a fissure on your colon and is it treatable?

Hi doctors, was just wondering what is a fissure on your colon and is it treatable?

Anal fissure: Anal fissures are essentially cracks in the lining of the anal canal that develop due to trauma, most commonly passage of dry hard stool. It is definitely treatable. Many topical medications have been tried with varying success rates. A short surgical procedure called tailored lateral internal sphincerotomy has the best success rates. ...Read more

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What is Chloride Diarhea? What's is causes? Is it treatable? My child 4 years old have this, Doctor says it untreatable. Guide me Please..

What is Chloride Diarhea? What's is causes? Is it treatable? My child 4 years old have this, Doctor says it untreatable. Guide me Please..

.? cyclosporidium: Classic chloride losing diarrhea, e.g., cholera, is amenable to fluid and antibiotic treatment. Diarrhea by cyclosporidium in normal children often clears by itself, however, immunocompromised individuals continues to have diarrhea for an indefinite period. ...Read more

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Doctor diagnosed me with hiatus hernia. Is it curable or treatable? Some advice on what to do and what will be done with me?

Doctor diagnosed me with hiatus hernia. Is it curable or treatable? Some advice on what to do and what will be done with me?

Very treatable: You have a hiatal hernia. You are 19. This is a very treatable abnormality. Your doctor will treat your symptoms and follow with you. If you are feeling well with medications then he/she will follow. As you age you may require more intervention. You may need a diagnostic study. You will need to manage your weight and to exercise. Watch what you eat. Be well. ...Read more

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Should I see a doctor for chronic sinusitis? I was diagnosed with chronic maxillary sinusitis while I was in the military and at the time they said there was not much they can do about it - is chronic maxillary sinusitis treatable? If so is it through otc

Should I see a doctor for chronic sinusitis? I was diagnosed with chronic maxillary sinusitis while I was in the military and at the time they said there was not much they can do about it - is chronic maxillary sinusitis treatable? If so is it through otc

Chronic: Chronic sinusitis includes nasal obstruction, sinus pain and pressure around the eyes, nasal drainage, chronic cough, fatigue, headache, nose bleeds and several other symptoms--you do not need them all. These symptoms are persent more often than not for at least 3 months. You may also get exacerbations that worsen all of the symptoms temporarily making it feel more like an acute sinusitis. Chronic sinusitis is treated with several meds at the same time: nasal steroid spray, antihistamine, nasal saline irrigations, prolonged antobiotics (4-6 weeks). If you don't feel better, then a sinus ct scan can solidify the diagnosis. Those that do not respond to maximal medical therapy may be candidates for sinus surgery. Surgery is normally very successful but often is not a cure but help alleviate many of the symptoms, making them easier to treat. ...Read more

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Hello doctor, a 10 years old boy diagnosed with WBC count of 450000+ and found affected with acute ll. Can it be treatable?

Hello doctor, a 10 years old boy diagnosed with WBC count of 450000+ and found affected with acute ll. Can it be treatable?

Yes: With proper medical care the success rate for treating all has increased tremendously over the last 3 decades. Seek early consultation with specialists for the best outcome. ...Read more

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The white of my eyes is little yellowish since long time, liver problems excluded by the doctor. What is that? Is it treatable?

The white of my eyes is little yellowish since long time, liver problems excluded by the doctor. What is that? Is it treatable?

Small areas: If these are small yellow spots on the corner of the white part of the eye they are called pinguecula, to prevent worsening use sunglasses. Treatment rarely requires surgical removal but can be done. First start with either artificial tear drops and if inflamed use short term mild steroids. ...Read more

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My 77yr old mom had a pelvic ultrasound & they found fluid & referred her to a gyno. Doc mentioned cancer. What are they looking for? Is it treatable?

My 77yr old mom had a pelvic ultrasound & they found fluid & referred her to a gyno. Doc mentioned cancer. What are they looking for? Is it treatable?

Waiting on Medicine: I understand it is frustrating to wait, but there is nothing to comment on here until the tests are completed and the diagnosis is known. And, of course until the diagnosis is known there is no way to predict what treatment will be needed. I would imagine the doctor is looking for all kinds of cancers and also liver issues, and other organ problems. The doctor will have her full medical history. ...Read more

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How's genital high risk HPV be treatable?? Don't most if not all doctors claim it to be non-curable?? How can one then be cured 100%?? Confused ughhh

How's genital high risk HPV be treatable?? Don't most if not all doctors claim it to be non-curable?? How can one then be cured 100%?? Confused ughhh

HPV: There are no antibiotics to treat HPV, however, the immune system of the majority of women will fight it off in a few years. Its generally not a life-long problem. If you have High-risk HPV, you will need to see your Gyn more frequently. I have personally not seen a case of cervical cancer in a women who does the follow-up. Its always been in women didn't follow the advice of their Gyn. ...Read more

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What are HIV & AIDS? What's the difference? Why is it the worst disease/STD according to majority of doctors? Are they treatable? P.S:I'm not infected

What are HIV & AIDS? What's the difference? Why is it the worst disease/STD according to majority of doctors? Are they treatable? P.S:I'm not infected

Virus versus disease: Human immunodeficiency virus (HIV) is a virus. The advanced form of HIV infection is acquired immunodeficiency syndrome (AIDS). The term AIDS isn't used much anymore, mostly just called HIV infection. It's the worst STD because unlike all others, it is usually fatal if untreated. Treatment is very effective to both prolong life and prevent transmission to partners. Search online for more info. ...Read more

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My gp told me pubic lice is curable. The doctor from the sexual health tells me different they are treatable there's no cure. U live withthemcompletely?

My gp told me pubic lice is curable. The doctor from the sexual health tells me different they are treatable there's no cure. U live withthemcompletely?

Pubic Lice Cure: With proper use of prescription creams, or lotions, pubic lice is curable. Since it is a human parasite on the skin, you can catch it again from intimate exposure to others who have the lice, or by sharing contaminated clothing, towels. Contact your doctor, or a Dermatologist, for treatment. ...Read more

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My 24 years daughter period stopped 4 months ago a doctor said she might have thyroid. Is this serious can it be treatable and how?

My 24 years daughter period stopped 4 months ago a doctor said she might have thyroid. Is this serious can it be treatable and how?

See below.: Thyroid abnormalities are just one of the possible reasons for amenorrhea (period stopping). I would think her doctor has ordered testing for all the possibilities. If it is a thyroid abnormality, it is treatable with thyroid hormone if it is hypothyroidism (low) or another medication if it is hyperthyroidism (high). ...Read more

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What cause a porphyria attack?

What cause a porphyria attack?

Porphyria results…: From lack of an enzyme in the path for making heme, the oxygen-carrying part of blood. There are many triggers for attacks:alcohol; smoking; drugs (barbiturates, sulfa antibiotics) phenytoin; progesterone; sun exposure; increased iron intake; chronic viral illness (hcv, hiv); stress (illness, emotional/ psycho-logical, physical); dieting/fasting. Http://www. Porphyriafoundation. Com/ for more info. ...Read more

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Please help! What is the disease porphyria?

Please help! What is the disease porphyria?

Porphyrias: Porphyria (poor-FEAR-e-uh) refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin — a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissue. High levels of porphyrins can cause significant problems.

Porphyria mainly affects your nervous system, skin and other organs. The signs and symptoms of porphyria can vary, depending on the specific type and severity. Porphyria is usually inherited — one or both parents pass along an abnormal gene to their child. But in some types of porphyria, environmental factors may trigger the development of symptoms. ...Read more

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What is the definition or description of: porphyria?

What is the definition or description of: porphyria?

Porphyria: The porphyrias are metabolic disorders caused by abnormalities in the synthesis of heme, the portion of hemoglobin which carries the iron inside red blood cells. The manifestations of porphyria vary considerably depending on the mutation involved, ranging from light sensitivity to liver failure to nerve damage to bouts of terrible pain. Special testing is required to make an accurate diagnosis. ...Read more

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What is a workup for porphyria? I highly suspect I suffer from it.

What is a workup for porphyria? I highly suspect I suffer from it.

Fairly rare disorder: Would start with a 24 hr urine collection for porphyrins, and if convincingly positive could do additional studies. However, low level elevations may be seen associated with dietary intake. A hematologist could aid in your assessment. ...Read more

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How are the porphyrias inherited?   can my children inherit porphyria from me?

How are the porphyrias inherited?   can my children inherit porphyria from me?

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

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Is porphyria research being conducted?   how can I volunteer to participate in research?  

Porphyria research: Information about ongoing research can be found at the american porphyria foundation website. Www. Porphyriafoundation. Com. ...Read more

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What's porphyria cutanea tarda?

What's porphyria cutanea tarda?

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

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What is porphyria cutanea tarda?

What is porphyria cutanea tarda?

Blistering disease: It is a disease that causes blistering seen more often in alcoholics because of enzyme defect causing increased porphyrins in blood. See dermatologist for full details and treatment. ...Read more

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Porphyria cutanea tarda symptoms?

Porphyria cutanea tarda symptoms?

Skin changes: A physician familiar with pct can make the call just on physical exam. The labs are confirmatory. A check for iron overload and hepatitis c are wise, but you'll manage the illness by becoming educated and doing a few simple things. Best wishes. ...Read more

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Can porphyria cause high bilirubin?

Can porphyria cause high bilirubin?

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

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What are the risks of acute porphyria?

What are the risks of acute porphyria?

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

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How's porphyria cutanea tarda diagnosed?

How's porphyria cutanea tarda diagnosed?

See below: The preferred screening test for pct is a measurement of porphyrins in plasma. This can differentiate pct from variegate porphyria. The patterns of porphyrins in urine (predominately uroporphyrin and 7-carboxylate porphyrin) and feces (predominately isocoproporphyrin) help to confirm the diagnosis. The presence of an inherited deficiency of urod can be demonstrated by measuring the enzyme in rbcs. ...Read more

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What is porphyria and what sets it off?

What is porphyria and what sets it off?

Porphyria: The porphyrias are hereditary conditions in which heme, the oxygen carrying molecule inside red cells, isn't made correctly. Several different enzyme mutations are responsible. A patient's symptoms depend on the enzyme affected. Some people are "set off" by exposure to light and others by certain diets or medications. You need to know the type of porphyria you have in order to know what to avoid. ...Read more