Early diagnosis of hemochromatosis is essential, so treatment may begin before irreversible organ damage occurs.Notice to the General Public
Unfortunately, diagnosis (and treatment) of hemochromatosis are often delayed because signs and symptoms do not appear until late in the disease. An early tip-off to hemochromatosis is, therefore, urgently needed.
Could beeturia be that early tip-off?
I would love a medical student, resident, or fellow to study this idea in a formal way. It has the potential to revolutionize the management of hemochromatosis and eternally eponymize you as the co-discoverer of the Sotos-[your name here] sign of hemochromatosis. Remember John Hunter's advice: "Why think? Try."
This web page describes a hypothesis, not a fact. If you have beeturia, consult a licensed physician.Main points
Beeturia, a little studied condition, is defined as pink or red urine after the ingestion of beets. It affects about 10-14% of the population.1,2Beeturia and Hemachromatosis
The observed color is due to the presence of a beet pigment, betacyanin, in the urine. Why only some people experience beeturia is unknown.
Several factors have been suggested as the cause for beeturia: genetic factors, food allergy, gastric acidity, gastric emptying, and, most recently, oxalic acid in the colon.2,3
However, beeturia is most common in individuals with enhanced iron absorption:
- A prevalence of 66-80% in patients with untreated iron-deficiency anemia.1,4
- A prevalence of 45% in patients receiving treatment for pernicious anemia (a condition in which augmented iron absorption is known to occur.)1
The effect of iron therapy is dramatic:
These old studies suggest, therefore, that betacyanin absorption, and hence beeturia, occurs at times of "iron hunger." Beeturia can appear and disappear in normals, so at least some of the "baseline" 14% prevalence may be due to the fluctuating nature of iron absorption in normal people.1
- Of 15 iron-deficient patients who had already received iron, only one developed beeturia.
- In 7 "iron-hungry" patients, beeturia resolved in all of them after 8 days of iron therapy.1
Genetic screening can detect hemochromatosis before adverse consequences of the disease become established. As a result, some experts have recommeded genetically screening the entire population for the disease. This expensive proposition has not, however, been implemented and hemochromatosis continues to be diagnosed late.
Given the increased iron absorption of hemochromatosis, one wonders about the relation between beeturia and the homozygous and heterozygous hemochromatosis genotypes. Notably, the prevalence of beeturia is about the same as the prevalence of hemochromatosis heterozygotes.
An important association between beeturia and hemochromatosis would have major clinical implications. As a sign of hemochromatosis, beeturia would occur earlier in life than the other known signs of the disease, having been recorded in infants and children.4 As a screening test, consumption of beets would be convenient and safe, although anaphylaxis has occurred.1 Another drawback, noted by Watson and colleagues1 is that the 100 g dose of beets used in their study is "much more than anyone would eat from free choice."
The potential public good from establishing beeturia as a sign of hemochromatosis is so large, and the risk of eating beets is so low, that there can be little objection to proceeding with a study of beeturia in patients with hemochromatosis.
I have also written about beeturia in Zebra Cards: Card DI-007, with updated references. Don't forget OMIM.