Halloween – a Day of Remembrance for People with Some Rare Diseases
Let’s start with something tasty — vampires. The idea of drinking the blood of a neighbor and not only is not new, but often practiced in a figurative sense. About real vampires that exist in nature, Med Goblin recently told in his post here. There are bats that drink the blood of other animals, and it is not at all excluded that our blood could also appeal to them, which is why there are even indirect proofs.
And if we abstract from the mere fact of drinking blood and focus on the image of a vampire described in folklore and in mass culture, we get a clinical picture of a rare genetic disease called porphyria. This is a hereditary disorder of porphyrin metabolism (these are pigments that underlie many biological molecules; in our case — hemoglobin) and it has a symptomatology close to the classic vampire portrait — pale skin that is sensitive to sunlight (photodermatosis), damage and deformation of cartilages (ears, nose, and finger joints over time acquire terrifying characteristic shapes), the color of urine has a red tinge (medieval logic is simple — red urine means drinking blood), gastrointestinal disorders accompanied by sharp pains (and try eating garlic with such a condition!), and neuropsychological disorders (here you don’t even know what’s happening to you — medieval medicine was full of various refined diagnoses and treatment methods, but it certainly did not suspect the existence of genes and their defects; it was hard to rely on a neighbor’s help, so reaching for the roof was not far!). Sometimes, the poor people also suffer from gum problems, which can recede a bit and expose the teeth more. Consequently, being such a delicate belle, socializing in strict medieval society was not easy.
Fortunately, not so many people suffer from such horror (1), and it is almost always a genetically determined pathology, the probability of occurrence is higher in isolated populations where consanguineous marriages occurred (as, incidentally, in royal families). About royal families — English King George III suffered from porphyria (2) and was quite unwell.
Another well-known character considered a deserving vampire (and, accordingly, a victim of porphyria) is Prince Vlad III Dracula. However, if the powers of Mr. George were studied by geneticists before granting him such a diagnosis, information about Dracula is quite limited and strongly distorted by the prism of the eponymous work by Bram Stoker, which, according to Romanian historians, shamed the good name of the national hero. It’s also interesting that Julia Enders, in her book "This Wonderful Gut," mentioning porphyria, expresses the view that an important role is also played by dysbiotic gut state in the etiology of this disease.
Other Halloween thrillers are the werewolves (lycanthropes). The basis for appearance in folklore of these creatures is evidently the rare disease hypertrichosis. In other words, excessive hairiness of the body, including the face. According to literature, this misfortune can be genetic or acquired, and is one of the secondary symptoms of certain pathologies caused by endocrine or metabolic disorders (3).
Zombies, or walking dead. Yes, and this happens! More precisely, the dead themselves are convinced of it. And the Cotard syndrome, or the “walking corpse syndrome,” is the reason. This pathology is a psychopathological disorder. Its cause is often head trauma. This syndrome can also occur alongside other mental disorders (4, 5). There is also a described case when a patient developed it after taking… acyclovir (oops) (6).
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Add a spark to this list with the rabies virus, which domestic animals and, accordingly, people often suffered from. The etiology of the disease is terrifying. And the key symptom that makes this disease relevant... in light of widespread folk beliefs about all kinds of evil is the transmission mechanism — through a bite. Also, the unfortunate are very affected by even a mention of water (holy water included) and by strong smells (such as garlic).
In general, this whole lot has not been merry, and social sting and the Inquisition made it worse! So — as you celebrate Halloween — don’t forget to raise a glass to progress in medicine!