Doctor insights on:
Causes Of Porphyria
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
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 ...Read more
Old legend: There's an idea, probably ill-founded, that congenital erythropoietic porphyria, which produces hairiness, a mutilated face, red teeth, and pain on going into sunlight is the origin of vampire / werewolf tales. The tale that these people crave blood (this isn't a classic feature) may have been added as the story grew, though heme is one factor that suppresses some forms of the illness. ...Read more
Acute porphyria: 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
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
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
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
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