One of the strongest weapons doctors have in the fight against disease is a patient’s medical history: the story of the patient’s health and their risk for genetic illnesses. Unfortunately, family medical history is often a weak spot in our self-knowledge. Unless you’re born to an aristocratic family whose medical histories are extensively documented, you may not know much more than the health history of your own parents, if that. This week we look at a family that did track its health… all the way to extinction: the House of Habsburg.
Detailed medical histories of the well-born have become a useful area of study for medical researchers. This is especially true when the records reveal, in one geneticist’s words, “a complex clinical profile… that led to the extinction of the dynasty.” The Habsburg dynasty, to be specific.
The House of Habsburg was one of Europe’s longest-reigning royal dynasties. Its members held the title of Holy Roman Emperor from 1044 until 1806, when Francis II of Habsburg-Lorraine dissolved the empire. At its height, its territory ranged from the Netherlands to Spain.
A key to the Habsburgs’ longevity as a dynasty was its policy of consanguineous marriage, otherwise known as inbreeding. The Spanish branch of the Habsburgs (1516-1700) was an extreme example. From a political perspective, marrying cousin to cousin made sense; it was one of the most effective strategies for consolidating power and preventing outside interests from getting too close to the throne.
But by the 1600s some of the downsides to the practice were becoming obvious. A not-especially attractive facial feature known as the “Habsburg Jaw” began to make itself known on the faces of the Spanish royal family, featuring a protruding, distended lower lip and a pronounced lower jaw.
Some of the greatest portraits in the history of European art documented this spreading birth defect. The great Spanish court painter Diego Velasquez (1599-1660) memorialized his patron, King Phillip IV of Spain, in a series of legendary portraits over the years. Depending on his facial hair, Phillip’s jaw is more or less apparent.
By the time the doomed King Charles II of Spain got his portrait painted in 1685, the Habsburgs had more than just a jaw problem. The family had a much higher rate of infant mortality than the general population, despite the royals’ privilege and access to the best nutrition and medicine, a sure sign of genetic abnormalities. Charles II survived his childhood but just barely. The product of generations of inbreeding (all of his great-grandparents were descendants of one couple, Joanna and Philip I of Castile), Charles was born with a host of health challenges and was known as El Hechizado: The Bewitched.
Not only did Charles II have the family’s signature mandibular prognathism (the medical term for the Habsburg Jaw), his tongue was enlarged to the point of making speech difficult; he was intellectually disabled, and suffered persistent gastrointestinal problems. Despite his apparent challenges, Charles II survived a number of childhood illnesses that are often lethal, including measles, chicken pox, mumps, rubella, and smallpox. He even outlived his first wife and married a second time, but neither marriage produced a child. Charles’ family insisted the infertility was the fault of his wives, but recent genetic research shows that the Habsburgs were almost surely to blame.
In their paper, “The Role of Inbreeding in the Extinction of a European Royal Dynasty,” published in the scientific journal PLoS One, scientists Gonzalo Alvarez, Francisco C. Ceballos, and Celsa Quinteiro show that the level of inbreeding the Habsburgs were famous for was also the cause of their demise. Eight major royal families made up the Habsburg dynasty. The scientists used the official family pedigrees of those families to chart sixteen generations of marriage (over 3,000 individuals), finding a startling 80% rate of consanguineous marriage that led to a high inbreeding coefficient (the odds that a child will receive identical pairs of genes from each parent). The higher the inbreeding coefficient, the greater chance that recessive genes may be passed through the generations. In the case of the Habsburgs, this led specifically to growth hormone deficiency and severe renal tubular acidosis. (Charles II’s infertility could also have been a result of contracting measles as a child).
Charles II died in 1700 at the age of 39 and with him the Habsburg’s Spanish dynasty perished, as well. Charles was succeeded on the Spanish throne by King Philip I of Anjou of the French House of Bourbon. The Bourbon dynasty has survived to the present day; Princess Maria Teresa of the Bourbon-Parma royal family recently died of coronavirus at age 86, but is survived by many relatives.
Not every family medical history is as bizarre as the Habsburgs’. But thanks to the thoroughness of their family tree, scientists today can
The scientists whose work explained the Habsburg Jaw are now investigating inbreeding in the Bourbon family tree, too.
It is common to hear statements such as, “wow, you look just like your father did at this age,” or to notice that your unruly hair resembles that of your second great-grandfather, in a recently-discovered photo. Though each person is unique, shared DNA dictates commonality in appearance and even behaviors among related individuals. Family members share more than visible or apparent traits, however, which means that you may have inherited more from your great-grandmother Dorothy than her beautiful hazel eyes and sunny disposition. It is possible that the DNA you inherited from the generations before you may leave you prone to developing a number of medical conditions and diseases.
This is why understanding the health history of your family is extremely important, as it can aid healthcare professionals in identifying which disorders you may have a higher-than-usual risk of developing, (though having a chronic disease in your family history does not guarantee you will develop the same disease). It is true that lifestyle choices and the environment you live in can significantly impact your health, but genetic factors also greatly influence which ailments you are predispositioned to develop. This knowledge will help you, along with your healthcare provider, to take steps necessary to reduce the risk of developing certain medical conditions, such as a higher frequency of screenings for certain types of cancers, or lifestyle changes, such as modifying your eating and exercise habits, reducing the risk of heart disease. Examples of medical conditions that are inherited or due to a genetic mutation, include:
Cancer (certain types)
Sickle cell anemia
Mental illnesses, such as depression
Alcohol and drug abuse
A complete family medical history should include at least 3-4 generations of health information, beginning with yourself and extending to your biological relatives, including your children, siblings, parents, aunts, uncles, cousins, nieces, nephews, grandparents and great-grandparents. The dates of birth and death, ethnicities, medical conditions and cause of death should be recorded, as applicable, for each of these family members.
You may be wondering how you can obtain this information. The simplest and first step is to ask your living family members: have you had any medical issues? If so, when did they first occur? Be sure and share your purpose in learning this information and most will be willing to share. Next, you should obtain records which include health details. Common records include death records and obituaries. However, there are other records which are not as common or are not associated with health, such as coroner’s inquest records or even World War I Draft Registration Cards, which can sometimes include clues to health or physical issues within the physical description section on the back of the form. Census records can also provide clues, when an ancestor is enumerated while a resident in an asylum or similar entity, the associated medical records are sometimes extant if sought out and available to living relatives.
Some older medical records may utilize terminologies that are not in common use today, such as Bright’s Disease (modern-day nephritis), dropsy (modern-day edema), apoplexy (a loss of consciousness or paralysis from a cerebral hemorrhage or stroke) or consumption (tuberculosis). Additional historically used disease names and their modern-day equivalents can be viewed here or in publications, such as A Medical Miscellany for Genealogists by Dr. Jeannette L. Jerger One of the most useful tools in the arsenal of a family historian for demystifying the handwriting on historic death record is the Internal Classification of Diseases (ICD), which is a coding system which has been in use since the late 19th century and provides a unified way to communicate cause of death. These often-overlooked numbers are recorded on death certificates in the area of the cause of death and can make the task of interpreting faded or poorly written records a breeze. A word of caution, in regard to the ICD list - ensure that you are reviewing the correct year, as the list has been updated about once every decade or so, making it imperative that you are not looking at a more modern period where the meaning of the code has changed.
Once you begin collecting the family medical information, it is best to record your data in an organized manner. That might be in the simple form of a spreadsheet, your family history software or create a Family Health Portrait via this free tool provided by the U.S. Surgeon General. After compiling your family medical history, print and share with your healthcare provider so that they may identify risk factors and together you can make informed medical decisions.
Your family medical history will never be complete, but make sure you record newly identified facts and any new diagnosis of a blood relative, sharing with your immediate family members at each stage of completion. This information can be beneficial to your children and siblings in making decisions regarding their health and wellness plans and they will most certainly appreciate the gift you have bestowed upon them.
Wendy Henderson, Hemophilia News Today (https://hemophilianewstoday.com/ : accessed 14 January 2021), “Why Hemophilia Is Called ‘A Royal Disease ‘“
Louis P. Le Guyader, PhD, Hemophilia of Georgia (https://www.hog.org/ : accessed 14 January 2021), “The Royal Disease: A Family History Update on Queen Victoria.”
Ewen Callaway, Nature (https://www.nature.com/ : accessed 14 January 2021), “Inbred Royals Show Traces of Natural Selection.”
23andMe (https://blog.23andme.com/ : accessed 14 January 2021), “How Inbreeding Doomed the House of Habsburg.”
Gonzalo Alvarez, PLOS One (https://journals.plos.org/ : accessed 14 January 2021), “The Role of Inbreeding in the Extinction of a European Royal Dynasty.”
James Wood, Mail Online (https://www.dailymail.co.uk/ : accessed 14 January 2021), “First royal death from coronavirus: 86-year-old Princess Maria Teresa of Spain's Bourbon-Parma dynasty dies after testing positive for bug – as nation mourns 5,690 dead.”
NCBI (https://www.ncbi.nlm.nih.gov/ : accessed 14 January 2021), “A Guide to Genetics and Health.”
Mayo Clinic (https://www.mayoclinic.org/ : accessed 14 January 2021), “Medical History: Compiling Your Medical Family Tree.”
“Indiana, U.S., Death Certificates, 1899-2011,” database with images, Ancestry.com (https://ancestry.com : accessed 12 January 2021), certificate image for John H. Roll (1917), Orange, state certificate no. 181; citing, “Death Certificates, 1900-2011,” Indiana State Board of Health, Indiana Archives and Records Administration, Indianapolis.
Wikimedia Commons, database with images (https://commons.wikimedia.org/wiki/File:Charles II.jpg : 13 January 2021), photo of original artwork “https://commons.wikimedia.org/wiki/File:Charles II.jpg;” photograph uploaded by user Lui1815.
Wikimedia Commons, database with images (https://commons.wikimedia.org/wiki/File:Retrato de Felipe IV en armadura, by Diego Velázquez.jpg : 13 January 2021), photo of original artwork “https://commons.wikimedia.org/wiki/File:Retrato de Felipe IV en armadura, by Diego Velázquez.jpg;” photograph uploaded by user Alonso de Mendoza.
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