If the illness doesn’t kill you, the medical bills just might. Look elsewhere for answers. For an eye- and mind-opening information (and review of a documented case history) , check out 2018 STILL FEAR-RIDDEN, FRUSTRATED, FORGOTTEN AND FED-UP: Patients with Atypical Acute Porphyria Presentation STILL Stuck in Urinary Diagnostic Quagmire
Acute porphyria diagnosis
Validation!! Enzyme assay necessary to confirm AIP diagnosis w/without US expert “Holy Grail” urinary output.
It is Rare Disease Week on Capitol Hill (2/25-3/1/2018) and I have some great news to share. In the midst of writing my 2018 FFFF white paper (this year titled STILL FEAR-RIDDEN, FRUSTRATED, FORGOTTEN AND FED-UP: Atypical Acute Porphyria Patients STILL Stuck in Urinary Diagnostic Quagmire), I was presented with some game-changing information. There is […]
From the 1958 article “Porphyria in Africa” by A.G. Shaper, section titled “The Urine in Acute Intermittent Porphyria”: “To complicate matters, in a recent survey of 80 cases seen at the Mayo Clinic it was noted that no porphobilinogen was found in nine cases with severe CNS involvement and in six cases with abdominal crisis…It should […]
As this very wearying year comes to an end and I find myself firmly ensconced in the 2017 holiday season, I realized that an inspiring gift had come via the Internet some weeks ago. Just words, it might seem an obscure, small thing to some, but to others, the 88 words meant someone got the […]
I know I’m not alone in thinking it highly inappropriate that the apf coalesced around an AIP index case who did not produce holy grail darkened urine “naturally” and then joined forces with a group to set the bar for diagnosing ALL acute porphyrias based on excretion levels of of U-PBG (which, as it turns out, […]
Analysis shows majority of “confirmed” acute porphyria patients diagnosed via “natural” excretion of darkened urine.
Hoping to distinguish the method of how “confirmed” acute porphyria diagnoses had determined, I recently analyzed 129 AIP, HCP and VP published cases. The results proved interesting: 60% noted they were diagnosed based on urinary biochemical testing following “natural excretion” of darkened urine during attack. 5% reported urinary biochemical testing of darkened urine following administration […]