Doctor insights on:
Very challenging: Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than others. Proper treatment and avoidance of triggers can help prolong the time between attacks. But attacks are quite painful and can be fatal. Life is a real struggle for someone with porphyria but it is possible to even do great things — some historical figures have suffered it. ...Read more
Tattoos on your breasts, or elsewhere, will not have any effect on your pregnancy or on breastfeeding your new baby. It may not be a good idea to get a new tattoo during pregnancy or while breastfeeding, because of the small risk of infection from the small breaks in the skin that ...Read more
Porphyrias involve three major symptoms:
abdominal pain or cramping (only in some forms of the disease)
light sensitivity causing rashes, blistering, and scarring of the skin (photodermatitis)
problems with the nervous system and muscles (seizures, mental disturbances, nerve damage). ...Read more
Depends on the type: There are 8 different kinds of porphyria. Depending on the type of porphyria, an attack can be precipitated by sunlight exposure, alcohol, inadequate diet, carbohydrate restriction, certain drugs or chemicals, hormonal changes & stress. Often a combination of triggers can precipate an attack. For more info, see the porphyria foundation's website: http://www.Porphyriafoundation. Com/about-porphyria. ...Read more
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
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
Porphyria: The porphyrias are hereditary conditions in which heme, the oxygen carrying molecule inside red cells, isn't made correctly. Several 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
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
Yes: Acute intermittent porphyria can affect the liver. You should talk to your doctor about what monitoring is recommended. ...Read more
Treacherous: Your physician needs to think of porphyria, then order special labs depending on the type. Further, these tests are often done wrong; the sample must be collected exactly right and the problems just start there. Further, the person much actually be sick for the tests to turn up positive. ...Read more
Porphyria in family: It depends on what type of porphyria he has. Some porphyrias can be dangerous, and some can be hereditary so you need to ask him what type he has so that both you and he can get appropriate advice from your physicians. ...Read more
Are there any GPs in JHB who have extensive knowledge on Porphyria? Current GP is unsure so I need to find a new one.
Hematologist: You need to look for Hematologist as porphyrias related hemoglobin. ...Read more
How is porphyria diagnosed in britain? How big is possibility that I am ill on porphyria if one of my parent and grandparent have porphyria.
Quite good: Even with Britain's terribly dysfunctional health care system, getting the basic blood work to check for variegate, acute intermittent and coproporphyria should be feasable. ...Read more
Disease family: Maybe 1 person in 1000 is born with a strong tendency to porphyria cutanea tarda and some forms of hepatitis can bring it out even in a normal person; it blisters and scars sun-exposed skin. Other porphyrias masquerade as abdominal pain, mental illness, constipation, low sodium, and chronic nerve pain -- and screening tests are often done wrong. Good luck. ...Read more
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
It can be: There are many forms of porphyria, some of which are rather mild and inconsequential, others of which are progressive and possibly lethal. If you suspect that you have porphyria, then you need to see your doc right away for diagnosis and treatment. ...Read more
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
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
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
Porphyria research: Information about ongoing research can be found at the american porphyria foundation website. Www. Porphyriafoundation. Com. ...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
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