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Neurology (Expert Forum)
Nerve and CNS symptoms/causes
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Nerve and CNS symptoms/causes
by BJP, Mar 11, 2001 12:00AM
What are some other possible causes of elevated Porphyrin levels other than Porphyria?
The type I have they say is a mutant that does not elevate PBG and ALA in the urine. There are many people in support group with no diagnosis with no elevations in PBG or ALA or decreases in the blood enzymes but mild to extreme elevations in the basic porphyrin levels as well as neuro symptoms and Altered Neuro Status and AB pain...and even red urine, they fail to be diagnoised and treated for porphyria and they suffer tremendously due to the elevations but since they do not fit the classic textbook types they are not treated or told I don't know what you have..All other tests are normal except for elavated porphyrins but the suffer the same symptoms I do and I was only diagnoised by sheer luck, I came across a doctor who was interested and ordered a DNA for the gene through a doctor and research friend of his. If it had not been for him I would have no DX either.
I guess my question is what other systemic disorders can cause elevated porphyrins levels and what tests should be done in the presence of these elevations when the PBG and ALa urine levels or normal..and if those are normal what is next? And is the neuro and CNS damage such as Neuropathy permanant?
Thank You so much for all your help and I would like to know how I may make a donation to help keep this valuable service going, as it is very helpful to so may....
The type I have they say is a mutant that does not elevate PBG and ALA in the urine. There are many people in support group with no diagnosis with no elevations in PBG or ALA or decreases in the blood enzymes but mild to extreme elevations in the basic porphyrin levels as well as neuro symptoms and Altered Neuro Status and AB pain...and even red urine, they fail to be diagnoised and treated for porphyria and they suffer tremendously due to the elevations but since they do not fit the classic textbook types they are not treated or told I don't know what you have..All other tests are normal except for elavated porphyrins but the suffer the same symptoms I do and I was only diagnoised by sheer luck, I came across a doctor who was interested and ordered a DNA for the gene through a doctor and research friend of his. If it had not been for him I would have no DX either.
I guess my question is what other systemic disorders can cause elevated porphyrins levels and what tests should be done in the presence of these elevations when the PBG and ALa urine levels or normal..and if those are normal what is next? And is the neuro and CNS damage such as Neuropathy permanant?
Thank You so much for all your help and I would like to know how I may make a donation to help keep this valuable service going, as it is very helpful to so may....
Doctor's Answer
by CCF Neuro[P]-M.D.-RPS, Mar 11, 2001 12:00AM
Dear BJP:
I don't think I can answer your question. We are taught that acute intermittent porphyria should be suspected in everypatient with acute or episodic neurological or psychiatric distrubances. In the four varieties one should see porphyrins in urine and/or stool during the attacks, but not necessarily between attacks. There is often hypercholesterolemia, hyperlipidemia, glucose interlerance and increased CSF protein levels. Definitive diagnosis requires measuring PBG deaminase activity in erythrocytes. Since the attacks are episodic but the lesion producing the attacks is fixed, the neuropathy is usually a waxing and waning with permanent changes.
Sincerely,
CCF Neuro MD
I don't think I can answer your question. We are taught that acute intermittent porphyria should be suspected in everypatient with acute or episodic neurological or psychiatric distrubances. In the four varieties one should see porphyrins in urine and/or stool during the attacks, but not necessarily between attacks. There is often hypercholesterolemia, hyperlipidemia, glucose interlerance and increased CSF protein levels. Definitive diagnosis requires measuring PBG deaminase activity in erythrocytes. Since the attacks are episodic but the lesion producing the attacks is fixed, the neuropathy is usually a waxing and waning with permanent changes.
Sincerely,
CCF Neuro MD
