Purple Canaries

Joyce Gould with Jill Gould

PURPLE CANARY: SEEKING CLARITY AMONG THE ACUTE PORPHYRIA CHAOS

(A periodic commentary forum in support of purple canaries the world over.)

December 1st – Remembering the “Father of AIP”

Swedish physician/scientist Dr. Jan Waldenstrom passed away on this date in 1966 at age sixty. Thirty-one years prior (1935) his article “NEUROLOGICAL SYMPTOMS CAUSED BY SOCALLED ACUTE PORPHRYIA” was published in the journal Acta Psychiatrica Scandinavica. It was in this medical commentary that Dr. Waldenstrom provided weighty findings about this insidious metabolic condition and its symptoms and confirmed what has long since been acknowledged–that symptomatic presentations of AIP are highly variable. Importantly, Waldenstrom revealed that “porphryins only play a relatively unimportant part of the development of the acute exacerbations.” He noted, “I have been able to observe a case where porphyrins [of a male sibling group] could be detected neither in urine nor bile during an attack.” Moreover, he noted that two brothers of that particular patient “suffer with typical a.p.” (evidently meaning their bodies’ did produce porphyrins during attack) and concluded, “[t]he diagnosis: porphyria without porphyrins and chromogen…has now been proved.”

Eight years later, his further scientific findings (this time in tandem with Vahlquist) were published in that same journal under the title, “Studies on the excretion of porphobilinogen in patients with socalled acute porphyria.” The scientists wrote, “the amount of porphyrin formed from the porphobilinogen is largely dependent on accidental factors” and “there exist cases with only transitory excretion of the pathological substance (porphobilinogen).” To that end, they continued, “we have observed a complete disappearance of the porphobilinogen from the urine in altogether four cases [out of eleven].” With that, the scientists concluded, “the possibility that the excretion of these substances may be intermittent has to be taken into account.”

Note that the Father of AIP recognized an attack of acute porphyria when he saw one—with or without urinary “proof”. Dr. Waldenstrom observed that this particular patient was in medical distress—not unlike his “typical a.p.” brothers—yet the patient hadn’t excreted porphyrins during said attack.

To this day, over the many long decades, too many porphyria experts throughout the US, EU, Australia, Canada, South America and South Africa among them refuse to recognize that very ill patients (especially those carrying porphyria mutations) do in fact suffer attacks of acute porphyria–yet their bodies do not produce the modern-day experts’ “expected” elixir (porphobilinogen-imbued urine)—either none—or, not “high enough” levels.

Fifty-four years after the “Father of AIP” was laid to rest, one has to wonder what reasoning has been behind successive experts’ flouting this brilliant scientist’s monumental 1935 and 1944 findings about acute porphyria attacks without “porphyrins and chromogen” and “excretion of these substances may be intermittent has to be taken into account” by unscientifically insisting “it can’t be acute porphyria”?

Routinely dismissing patients’ complaints (especially those with acute porphyria gene mutations—Hippocrates allegedly uttered, “If you are not your own doctor, you are a fool) and their physicians/specialists’ observation(s) of recurrent, severe and debilitating neurological pain amounts to 1) unnecessary medical cruelty to the patient(s)–and yes, for some, malpractice claims–and 2) expert arrogance directed at physicians who otherwise adequately and astutely practice “below” the expert hierarchy.

Why, for so many decades, the porphyria expert society has chosen not to give credence to the increasing numbers of complaints from doctors (and specialists) and patients (many with positive genetic reports and/or family histories of porphyria) who, after doing their own due diligence have ruled out “everything but acute porphyria” in the differential diagnosis list is decidedly not, in Purple Canary’s opinion, physician/scientist/expert activity.

 Thankfully, there are some doctors, specialists and experts in the world who are not beholden to the US-pharmaceutically driven narratives and follow the Waldenstrom/Valhquist (and other “early” physician/scientists’) paths–and rely on their own training, experience and acumen. For instance, in reviewing a certain case at the request of a patient who suffered multiple painful, neurological attacks and who also routinely presented with below normal PBGD values, an established, South American porphyria expert team had this to say:

  •  “[T]here are enough and clear evidences: enzymatic and clinical ones, to sustain a medical diagnosis of AIP…”
  • “The critical result for a diagnosis of AIP is the level of enzymatic activity of Hydroxymethylbilane Synthase, whether the patient is presenting an acute crisis or if never one as occurred. Identification of the mutation is an ideal goal[b]ut it is not mandatory. In the presence of typical symptoms, a low enzymatic activity is diagnostic even with absent [urinary biochemical proof].”
  • “his/her enzyme levels are evidence of the acute porphyria crisis which should be treated every time…with hemin,
  • This expert team concluded, “We are willing to contribute to the finding (or confirmation) of the actual molecular diagnosis [for this patient].”

 In 2017, a US porphyria expert stood in front of FDA professionals and a conference room filled with suffering acute porphyria patients who were specifically on hand to share their stories and stated that “the prevalence of the genetic defects [US] is…estimated around 65/100,000. The next year (2018) a French porphyria expert team went on record to report, “The minimal estimated prevalence of AIP in the general population [of France] was 1/1299. Thus, 50 000 subjects would be expected to carry the AIP genetic trait”. Yet experts in these countries and many others dismiss people who suffer attacks but don’t generate the elusive “gold standard” (as Waldenstrom’s and Vahlquist’s patients didn’t). Why? What gives?

 PORPHYRIA EXPERTS ARE ENCOURAGED TO ADVISE THE MEDICAL AND PATIENT COMMUNITY WHERE WALDENSTROM AND VAHLQUISTS 1935/1944 DIAGNOSTIC ACUTE PORPHYRIA FINDINGS STAND GOING INTO IN 2021?


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