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 no a doubt that this information will be soundly criticized and challenged by APF et al.
Attempting to get to the truth of Jill’s AIP conundrum, I have communicated with patients, patients, doctors and specialists from around the globe since 2009. I hope you will all read 2018 FFFF in its entirety (www.purplecanaries.com) because it reveals significant information about the current (aka APF/European) acute porphyria diagnostic model. Scrutinizing enzymes is rarely, if ever considered—I know because I’ve tried. However, received a medical opinion about Jill’s case from the IVIC (Venezuela) porphyria expert team and will share its summary (some of which is in all caps—because it’s that important):
“In summary, we believe that there are enough and clear evidences: enzymatic and clinical ones to sustain a medical diagnosis of AIP regardless of the mutation identification failure, which is a known obstacle found in ~40% of populations worldwide and that the symptoms she presents and her enzyme levels are evidences of acute porphyria crises which should be treated every time, if possible with hemarginate or in its defect with hemin…Plasma PB must be performed during any acute crisis and its level should be found above any value encountered in controls if our diagnostic conclusion is right. Enzyme levels should stay abnormally low.”
“THE CRITICAL RESULT FOR A DIAGNOSIS OF AIP IS THE LEVEL OF ENZYMATIC ACTIVITY OF HYDROXYMETHYLBILANE SYNTHASE, WHETHER THE PATIENT IS PRESENTING IN ACUTE CRISIS OF IF NEVER ONE HAS OCCURRED; THE PERSON IS NONETHELESS A CARRIER OF ONE MUTATION CAPABLE OF PRODUCING AN ACUTE CRISIS. A LARGE PROPORTION OF CARRIERS (UP TO 85%) INDEED NEVER HAD ONE. IDENTIFICATION OF THE MUTATION IS AN IDEAL GOAL BUT IT IS NONMANDATORY. IN THE PRESENCE OF TYPICAL SYMPTOMS, A LOW ENZYMATIC ACTIVITY IS DIAGNOSISTIC, EVEN WITH ABSENT U-BP (read paragraph above again).”
In other words, people, unless an AIP diagnostic model includes enzyme measurement, it is incomplete, as I and others have been saying for years about US experts’ decisions to ignore the enzymatic component.