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Diagnosing Pharaoh: Did Akhenaten Have Marfan Syndrome?

20 May 2007


Ms. Paula Terrey is an independent researcher and charter member of both ARCE/NC and the Northern California Chapter of the National Marfan Foundation, who has first hand experience with Marfan syndrome through her husband’s family. She has done extensive research on the syndrome.


Ms. Terrey opened her remarks by noting that she counts at least a dozen friends and family members with Marfan syndrome, including her husband. 


What is Marfan syndrome?  It is a genetic connective tissue disorder resulting from a defect in the Fibrillin-1 gene (FBN1 gene), which causes an incorrect amino acid to be incorporated in the making of fibrillin protein. The faulty protein is used in the formation of microfibrils, which in turn form defective connective tissue.  It also involves increased signaling of a molecule called transforming growth factor beta (TGF beta), and this may be responsible for characteristics that are difficult to link to faulty fibrillin alone, such as overgrowth of the long bones, some facial features, and lung abnormalities.


Marfan syndrome is dominant, meaning that if you have it, you will show the traits.  If one parent has the syndrome, each child of that parent has a 50% chance of inheriting the syndrome.  75% of cases are inherited, 25% are spontaneous first-time mutations. It affects males and females equally, and all races equally.  The syndrome is relatively rare, affecting approximately 1 in 5,000 worldwide. There are about 54,000 people in the US who have Marfan syndrome.


In 1993, the first publication appeared suggesting that 18th Dynasty Egyptian pharaoh Akhenaten had Marfan syndrome. Prior to 1993, Akhenaten’s unusual appearance was attributed to such things as rickets, head molding, castration, and a hormonal disorder called Frohlich’s syndrome. Frohlich’s was the most popular, and was repeated for years in the literature.  It was suggested in 1926 by G. Elliot Smith as a way to explain the apparent “youth” (20 years at death) of the bones discovered in KV-55, now thought to belong to Smenkhkare, but at the time thought to belong to Akhenaten.


In addition to Akhenaten, other historical figures have been identified as possibly having Marfan syndrome, including Abraham Lincoln, Mary Queen of Scots, and Charles de Gaulle, primarily based on their unusual height.   Until the advent of pioneering heart surgery, those with Marfan generally died in their 30s due to the cardiac complications of the disorder.  Now, with surgical intervention, the average life span has been extended to 70 years.  Since Lincoln was 56 at the time he was assassinated, Mary Queen of Scots was beheaded at age 44, and DeGaulle lived to the ripe old age of 76, if any of them really did have Marfan, they beat the odds.  Nevertheless, they remain associated with the disorder, and Akhenaten’s diagnosis with Marfan has the same widespread acceptance in both the Marfan and the Egyptological communities.


To determine whether Akhenaten, or anyone else for that matter, has Marfan, a correct diagnosis is critical.  In 1986, a set of diagnostic criteria was codified as the so-called “Berlin Nosology,” and in 1996 it was revised and refined to become what is today known as the Ghent criteria. The Ghent criteria lists 33 traits that may be manifest in a person with Marfan syndrome, and is still the “gold standard” for the clinical diagnosis of the disorder. 


The Ghent criteria are divided among six systems of the body: skeletal, ocular, cardiovascular, pulmonary, skin & integument, and the durra.  Because we do not have Akhenaten’s mummy, we can only evaluate those areas that we might hope to see represented in art. Thus, we are immediately limited to the skeleton, eyes, and perhaps the skin.  


The 33 potential traits also have different weights. “Major” traits are those that are more specific to Marfan.  “Minor” traits can occur with Marfan, but also in other situations.  A diagnosis of Marfan requires “Major Involvement” of at least two systems and “involvement” of a third.  Also, there are a number of connective tissue disorders; the differential diagnosis for Marfan syndrome involves ruling out at least 10 other conditions with which it can be confused. 


In the skeletal system, there are 9 “major” and 8 “minor” potential traits. To have “major involvement” of the skeletal system, at least 4 major traits must be present.  The ocular system has only 1 “major” trait and 3 “minor” traits. To have “major involvement” of the ocular system, a patient must have that one major trait.  The skin has no major traits at all, only minor.  Thus, in order for Akhenaten to be diagnosed with Marfan syndrome, we must prove that he has major involvement of both the skeleton and the eyes.


If we look at the “major” skeletal traits and evaluate them against Akhenaten’s representations, we find that there is only one that seems a certain match – that of his long fingers. However, sculpture from the Amarna period (as opposed to reliefs) doesn’t reflect particularly slender wrists or unusually long fingers, so even these traits are a “maybe.”   He does not have a “pigeon chest,” nor a “funnel chest,” nor does he have unusually long legs. In at least some representations of the king he has an unusually long “wing span,” based on the length of his arms as measured against his height, but it is not consistent, so maybe he meets that criteria and maybe not. There is no indication that Akhenaten had scoliosis or kyphosis, and his arms are at times portrayed as very straight, so he does not show “reduced extension” of the elbow. He is generally portrayed with nicely arched feet, so it is unlikely that he was flat-footed.  And because we have no skeleton to examine, we cannot determine if he had an unusual deepening of the hip socket called “Protrusio acetabulae.”


The “minor” skeletal traits include such things as an unusual range of motion in joints, a high, arched palate with crowded teeth, underdevelopment of the cheekbones, a dolichocephalic skull type, or a receding chin.  None of these traits seem to apply to Akhenaten based on representations.  Without a skeleton to evaluate, some cannot be determined at all.  Another skeletal trait, “down-slanting palpebral fissures,” involves the opening of the eyes.  People with Marfan may have a downward tilt at the outer corners of their eyes, but Akhenaten is usually shown with a distinctive up-tilt.  In spite of this obvious contradiction, Akhenaten’s “slanting” eyes are often cited as proof of Marfan syndrome.


Eye traits include a flat cornea, dislocated lens, elongated eyeball (resulting in nearsightedness) and inability of the pupil to contract as well as it should.  Of these, the only major trait is a dislocated lens, but it is unclear how this, or any of the ocular traits, would be represented in art. Also, the ancient Egyptians had a distinctive method of representing blindness in art, but Akhenaten is never shown as blind.


There are only two potential skin traits: unusual distribution of stretch marks on the shoulders, back and thighs, and recurrent or incisional hernias.  Akhenaten shows no marks on his shoulders, back or thighs and is never shown with a hernia.


Another tool in diagnosing Marfan is family genetic history.  If a first-degree relative independently meets the diagnostic criteria, then requirements for diagnosis are less stringent. We do have mummies of some of Akhenaten’s relatives, so they are worth examining. The mummy identified as his father, Amenhotep III, was about 50 at the time of death, balding, obese and about 5 feet tall, so there are no Marfan characteristics there.  Queen Tiye (the so-called “Elder Lady” from KV-35) is about 4’ 9” tall.   If the mummy found in KV-55 is indeed that of Smenkhkare, brother of Akhenaten, then he is of interest.  He is about 5’ 7” tall, his skull is brachycephalic, and he was between 19 and 21 years old at the time of his death.  His arms may be long relative to his height, but this is his only potential Marfan trait. Tutankhamen was between 5’ 3” and 5’ 7” tall.  He had a slight cleft pallet, but this is not associated with Marfan syndrome. He also had a slight scoliosis, but this is now generally accepted as resulting from the way the embalmers “laid him out.”  The larger of the two stillborn female fetuses buried with Tutankhamen may have had Klippel-Feil syndrome, which involves a high scapula, scoliosis, and spina bifida. But again, Klippel-Feil syndrome is not to be confused with Marfan syndrome. In particular, spina bifida is not connected to Marfan.  In fact, it is almost never an inherited condition, but is associated with a lack of folic acid in the diet of the mother.


Individuals with Marfan tend to be very tall and thin (Ms. Terrey’s husband is 6’8” tall). They have a normal hormonal balance and thus normal development of the sexual organs, so androgyny is not something ever displayed by people with Marfan.  Some have stated that those with Marfan suffer excessively from the cold, thus linking this trait to Akhenaten’s sun worship.  Ms. Terrey advised, however, that there is nothing in the medical literature about this, and it definitely doesn’t match the personal experience of her friends and family. Ms. Terrey noted several other indicators that have been identified as Marfan-related, such as hand holding (due to supposed weakness or poor eyesight), a mania for walking sticks (due to pain and weakness), and loneliness and other emotional problems (due to rejection by family members for being “different”). However, none of these “links” hold up under scrutiny.


Thus, it is Ms. Terrey’s conclusion that Akhenaten did not have Marfan syndrome.  There are only 2 potential traits that could be applied to him: long fingers and long “wing-span.” In addition, several things about Akhenaten’s appearance are the exact opposite of what we expect to see in Marfan, including his short legs, feminine fat distribution, up-tilting eyes, prominent cheekbones, and prominent chin.

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