This is a puzzling set of results in that 
1 The urine profile (presumably by HPLC) would be consistent with causes of
porphyrinuria other than porphyria e.g. liver disease. 
   With AIP I would expect the URO>COPRO with isomer I series predominant. 

2 The slight elevation in PBG and normal ALA would make the diagnosis of an
acute porphyria unlikely if the patient was       symptomatic at the time 
of collection.  Was the patient symptomatic at the time of sample
collection? Is there a family history of    porphyria? 
3 The plasma could have been used to look for the plasma marker of
Porphyria Variegata (VP) or the blood could have been used to    assay the
activity of PBG deaminase (HMB synthase) . I would have expected that the
major porphyrin component of the plasma    to be coproporphyrin as the HPLC
profile of the plasma should have reflected that of the urine. Free
protoporphyrin is elevated in    the plasma in erythropoietic 
protoporphyria (EPP) while in conditions such as lead  intoxication and
iron deficiency the Zn-   protoporphyrin is trapped within the
erythrocytes. Was the sample haemolysed? 
4 The cortisol levels could indicate a loss of diurnal rhythm which I
believe is seen in affective disorders.
5 I would not be convinced that this patient has an acute porphyria
especially if they were symptomatic at the time of collection - I     know
there are many expects on porphyria in Europe and perhaps a referral to one
of them would be useful. Once the label of     porphyria is attached to a
patient it is almost impossible to remove it. 
----------
We currently have a young woman in our outpatient clinic with a puzzling
porphyrin profile.

ALT                      42         U/l (n= < 25 U/L); slightly elevated
cortisol 8:00 h       0.51   ummol/L n= 0.15 –0.70 :mmol/L)
cortisol 16:00 h     0.41   ummol/L (n= < 60% 8:00 h value)
Plasma:
Protoporphyrin      45      nmol/L (n= <555 nmol/L)
Urin:
Uroporphyrin          5.1  ummol/mmol creatinin (n= 0.6 - 2.9)
Copro.porf           I 9.6   ummol/mmol creatinin (n= 1.0 - 5.8)
Copro.porf III       50.9   ummol/mmol creatinin (n= 2.9 - 19.3)
% copro.porf III    84   % (n= 66 - 86)
COMMENT ON COPRO III: results point to liver disease  or secondary to
increased haem
synthesis
Porfo.bili                1.9   mmol/mmol creatinin (n= 0.0 – 1.2)
Delta ALA               0.6   ummol/mmol creatinin (n= 0.0 - 2.9)

Can it be an acute itermitting porphyry? I thought delta ALA was much
higher in urin with AIP?
 
Dirk Bakkeren
klinisch chemicus
Diaconessenhuis Eindhoven
Nederland







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