Queen Victoria’s eldest daughter “Vicky” and her daughter, Princess Charlotte of Prussia, suffered from porphyria. George III’s granddaughter was Queen Victoria. His highly controversial politics, certainly not helped by his disorder, had always overshadowed his more sterling qualities of affection and fidelity to his Queen, love for his children, and intellectual curiosity in music, literature, art, agriculture, and architecture. With his life depicted as a tragicomedy, he was dubbed “The Mad King George” in plays and movies. George III’s illness was intermittent and short-lived until his final days, but these episodes did throw the British Constitution into crisis. 8 The genetic source of origin may have been the affected Queen Margaret Tudor, the great-grandmother of King James I and Lady Arbella Stuart. 7,8 With King James I (of the King James’ version of the Holy Bible), his meticulous physician Sir Theodore Turquet de Mayerne recorded abdominal colic, diarrhea, yellow discoloration of the eyes, leg cramps, increased sensitivity to sunlight with blistering of the skin, and urine “red like Alicante wine.” Lady Arbella Stuart, a first cousin of King James I, was also reported to have all the tell-tale manifestations of porphyria variegata. These clinical features are consistent with a diagnosis of variegate porphyria, and may be traced back to his ancestors Mary Queen of Scots in the 1500s, and her son, King James I. Deemed to be mad and too confused to rule, he died an octogenarian in custodial care in 1820. In 1810 George III had a relapse, after which he descended into permanent derangement. Just as each episode was acute in onset, so recovery was equally sudden and rapid. Treatments ranged from emetics and cathartics to straightjacket confinement and blood-letting with leeches. 4 At that time, speculative diagnoses were profuse, from “bilious attacks” to gout to sheer insanity. When George III was between fifty to seventy years of age, he suffered a series of incapacitating bouts of “madness.” During each attack, attending physicians noted a rapid pulse, fever, a yellowish discoloration of the eyes, abdominal colic, constipation, cramps in the legs, skin blistering on the arms, port wine-colored urine, and rambling and incessant speech that degenerated into obscenities and hallucinations. He presided over a turbulent period of British history that saw the American War of Independence, the French Revolution, the Irish Rebellion, and the Catholic Emancipation. 1 During an acute attack, urinary levels of porphobilinogen and delta-aminolevulinic acid and fecal levels of protoporphyrin and coproporphyrin are elevated. Porphyria variegata does not “skip a generation,” but those with the gene have such variable manifestations that some are labeled as “silent carriers.” The gene called PPOX has been mapped and cloned to chromosome 1q. Most inborn errors of metabolism are inherited as autosomal recessive, but this disorder is inherited as autosomal dominant with low penetrance. It is due to a deficiency in the enzyme protoporphyrinogen oxidase (PPOX). The “royal” porphyria is porphyria variegata, which has an incidence in the general population of 1 in 100,000. In each type of porphyria, one of the enzymes that controls heme biosynthesis is lacking, leading to a buildup of porphyrins in the body and causing symptoms such as abdominal pain, nervous system manifestations, mental health issues, and skin eruptions. The porphyrias are a group of inherited disorders associated with the production of heme, an iron-containing compound used to make hemoglobin in red blood cells. Two genetic blood diseases plagued the European Royals. Any medical condition may give some insight into their lives and provide an explanation for a physical feature or behavior. Public Domain.įamous people with genetic disorders have always been a subject of interest, and royalty are often considered the crème de la crème of celebrities. Hereditary blood disorders in blue-blood aristocrats February 5, 2020
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