Editorial

THE MALADIES OF CELEBRITIES

By Prof. Talaat I. Farag, MD, FRCP(Edin), FACP
Email: mail@ambassadors.net

 

 

In previous issues, The Ambassadors Magazine published the stories of numerous celebrities and their maladies. These included special features on Noble Prize laureate Albert Einstein, Siamese Twins Cheng & Eng, the Queen of Punt, the Little People of America, Chris Burke (Goodwill Ambassador of the National Society of Down Syndrome), and Tutankhamun, the Golden King. The FEATURES section of this issue includes articles about the legendary Austrian musician and composer Mozart and British novelist Charles Dickens. In line with our investigation of the ailments of celebrities, in this editorial, I look at Marfan Syndrome as a alleged malady of  the 16th American President Abraham Lincoln and the Egyptian18th Dynasty King Akhenaton.

 

Did King Akhenaton and President Lincoln suffer from
Marfan Syndrome!?

A historical symposium held in Nasser Institute, Cairo, Egypt on October 31, 2001 under the auspices of H.E. Prof. Ismail Sallam, the minister of Health and Population, focused on the study of Ancient Egyptian disease profiles. The symposium raised an interesting question: DID KING AKHENATON HAVE PRESIDENT LINCOLN SYNDROME? During the symposium, I presented a paper entitled, "Ancient Egyptian Art: a bio-anthropological and medico-genetic dissection of four unsolved mysteries" that ventures to answer these difficult questions, if answers actually exist! The meeting was the first of its kind to involve an elite multidisciplinary group of specialists in archeology, anatomy, anthropology, clinical genetics, Egyptology, history, medicine, and molecular genetics. 


Nasser Medical Institute (Cairo)

        
H.E. Prof. Sallam with Profs. Fawziya Hussein (anthropology), Samia Temtamy (syndromology), Suzanne Ismail (medical genetics), 
Mohammed El-Sawy and Wagida Anwar(molecular genetics), Prof. Mokhtar Gomaa (cardiology), Azza Al-Hussaini (under-secretary),
 Abla Al-Alfi and Hesham Kandil (pediatric genetics), Randa Baleigh and Abeer Helmy (Egyptology).

President Lincoln (1809-1865) and Marfan Syndrome

On September 21, 1961, A.M.Gordon addressed the Kentucky State Medical Association with data associating President Abraham Lincoln with Marfan Syndrome (MS). Dr. Schwartz later published work that supported Gordon's diagnosis. Both based their diagnosis on his long limbs, chest deformity,  and descriptions by contemporaries of his lax joints. In a debate published in the Journal of American Medical Association (JAMA 1964), Dr. Montgomery disputed this diagnosis and stated that Lincoln did not suffer from MS. This syndrome was first reported in 1896 by a French pediatrician, Prof. Antonin-Bernard-Jean Marfan (1858-1942) representing an association affecting skeletal, ocular (eyes) and cardiovascular systems. A patient with classical MS has tall stature, disproportionate lengths of the limbs, spider fingers/toes (arachnodactyly), dislocated ocular lens and aortic aneurysm. 

Other celebrities alleged to have MS include: 

With such unsubstantiated claims based on excessive height or long fingers alone, we might as well label all tall NBA basketball players as Marfan!! One of the few celebrities documented to actually have suffered from MS was the volleyball star, Flo Hyman, died from a ruptured aortic aneurysm associated with MS. The tragic event focused widespread attention on the syndrome (Pyeritz 1986). 

Diagnosing Marfan Syndrome


Prof. A.B.J. Marfan (France)


Prof. V.A. McKusick, 
(Johns Hopkins)


Prof. R. Neil Schimke (Kansas University)


Prof. Samia Temtamy (Cairo)


Prof. Bob Brier (advocate for  the National MS Association)

In 1955, Prof. Victor McKusick, the father of medical genetics, published the earliest extensive study on the controversial aspects of MS and more recently in his catalogue Mendelian Inheritance in Man (1998). Clearly, there is a difficultly in diagnosing this syndrome without the appropriate scientific methodological approaches, since there are at least 20 syndromes that share similar phenotypes with MS. For example, Herman et al. (1975) reported the similarities between Stickler Syndrome and MS. Interestingly, some scientists mentioned that since Lincoln had Marfanoid habitus and his son Tad had a flat face with a cleft palate, the possibility of Stickler should also be raised. Also, the Italian violinist and boyfriend of Napolean Bonaparte's sister,  Niccolo Paganini (1782-1840), a tall thin man with long fingers and hyperextended joints, was said to have MS until others diagnosed him as Ehler Danlos Syndrome instead. Prof. Neil Schimke (Kansas Univ.) and Prof. McKusick (Johns Hopkins) published an early study about homocystinuria, a metabolic disorder which can sometimes be mistaken for and diagnosed as MS. In the fifth edition of Mckusick's Heritable Disorders of Connective Tissue (1993), Godfrey lists more than 20 diseases which can be mistaken with MS. Furthermore, the international syndromologist, Prof. Samia Temtamy published a book with Prof. McKusick on the genetic disorders of hand anomalies showing that long fingers and toes can happen without MS (arachnodactyly).

In 1979, Pyeritz and McKusick stated that "at a minimum, the person suspected of being affected by Marfan Syndrome should receive a thorough physical examination consisting of a measurement of body proportions, a detailed ophthalmologic examination including slit-lamp examination with the pupils fully dilated, a chest radiograph, and an electrocardiogram. This data when compiled with the complete family history should permit the diagnosis to be made or rejected with 90% certainty in the cases. Today we base the diagnosis of MS on 4 criteria: characteristic familial, ocular, cardiovascular and skeletal features. We think it prudent to require at least 2 of these criteria to make the diagnosis.

Ten years later, in 1989, a workshop was held in Connecticut to study Marfan Syndrome which concluded that, "in addition to the accurate designation of a person as affected or not, all subjects in the screening panel of families must be tested for identification with DNA hyper-variable probes. Only then can an absolute diagnosis be made.

The Abraham Lincoln Marfan matter will not be settled by vacuous debate, but by the weight of cumulative scientific evidence. Prof. McKusick (1991), explained that he "would put the chances of Lincoln having had MS at 50-50." Prof. Samia Temtamy and her colleagues agreed with this view during the scientific workshop held in October 2001 in Cairo. I presented in this workshop at least 15 possibilities for King Akhenaton's alleged pathology based only on the analysis of his artistic representations (in a pre-photographic era). As argued by Prof. McKusick, it is difficult or even impossible to prove that he had Marfan Syndrome in the absence of DNA studies which would require finding his mummy or its remnants, which remain unfound to this day. Recently it has been found that Marfan syndrome is caused by mutation in the long-arm of chromosome 15. The specific gene involved is named Fibrillin I Precursor (FBN I). Today, molecular studies can prove if a person has Marfan syndrome or not. In the absence of this biotechnology, a more precise diagnosis needs a multidisciplinary team consisting of a clinical geneticist, ophthalmologist, cardiologist, and a physical anthropologist..

King Akhenaton and Marfan Syndrome

In the historical symposium held in Cairo on October 31, 2001 to study the disease profile of Ancient Egyptians under the auspices of H.E. Prof. Ismail Sallam, all the members of the multidisciplinary committee rejected the diagnosis of Marfan Syndrome to King Akhenaton in the absence of his mummy or its remnants. Even dissection of the artistic representations does not correspond with this diagnosis. More than 15 other possibilities were raised in the differential diagnosis. The committee included professors: Samia Temtamy and Suzane R. Ismail (syndromologists); Mohammed El-Sawy and Wagida Anwar (molecular geneticists); Fawziya Hussein and Fawzy Gaballa (anthropologists); Mokhtar Gomaa (cardiologist), Mervat El-Sahragty (diagnostic radiologist); Wael Mansour Fahmy (orthopedic); Abeer Helmy and Randa Baligh (Egyptologists); Hesham Kandil and Abla El-Alfi (pediatric geneticists); and Ahmed Toughan (artist).

In the case of Akhenaton, we have to depend only on dissecting his artistic presentations. Recently, I communicated via email with the Canadian Egyptologist, Alwyn Burridge, who is completing her PhD on Akhenaton and Marfan Syndrome at the University of Toronto. In this correspondence I expressed that "with the available information, as a medical geneticist and syndromologist, I do not believe that King Akhenaton suffered from Marfan Syndrome." Based on the dearth of information to make a precise diagnosis for King Akhenaton, I would like to send the same message to Prof. Bob Brier. Hence it is necessary to remove the name and photo of King Akhenaton from the National Marfan Association's material. Until an absolute diagnosis can be reached, it is inappropriate to turn King Akhenaton into a symbol and poster boy for a disease he may not have suffered. The same goes for President Lincoln whom the association insists suffered from MS, without having tangible evidence in the post-Human Genome Project era..

TO WHOM IT MAY CONCERN:

The Ambassadors Magazine would like to wish Prof. V.A. McKusick a happy 80th birthday. It is a great honor for me to send a letter to this scientist who studied Marfan Syndrome and heritable disorders of connective tissue since 1955 to solicit his opinion regarding King Akhenaton's alleged pathology. 

Furthermore, I would also like to request from Prof. Bob Brier to delete the name of King Akhenaton from the National Marfan Syndrome Association. It is wrong to put the first monotheist peace messenger as a logo to a disorder without conclusive evidence.

All fellows of the American, Canadian and European Colleges of Physicians and Medical Genetics & National Society of Genetic Counselors (NSGC) are invited to join this discussion. It is extremely important to be conclusive and not rely on hearsay. Scientific documentation is needed before we can use persons as symbols to a depict a disorder. Otherwise it makes a mockery out of these organizations. As a clinical geneticist, syndromologist and medico-Egyptologist, I dislike bad jokes!


PLEASE PLACE YOUR OPINIONS IN 
THE AMBASSADORS DISCUSSION FORUM

To this date, The Ambassadors Magazine has received many emails, phone calls and letters regarding the topic of this EDITORIAL. Due to this, The Ambassadors Magazine is seriously considering organizing an international conference representing different specializations and Marfan Syndrome associations to discuss this issue.

Dr. Zahi Hawass' view (phone communication - Jan 10, 2002)

The Ambassadors Magazine consulted the international Egyptologist, Prof. Zahi Hawass PhD (Undersecretary of the State for the Giza Monuments) about King Akhenaton's ongoing controversy. He provided an insightful and provocative opinion explaining that "Akhenaton's statue is not necessarily representative of the King himself, but is a symbolic combination of natural phenomena: commanding strength of a male and child-bearing fertility." He explains the King's appearance as a holistic interpretation of his monotheistic religion, which becomes obvious by analyzing "Akhenaton's hymns".

Prof. Hawass showed support to The Ambassadors Magazine's initiative to organize an international conference, and readiness to participate and contribute in such event.

 

REFERNCES

WEBSITES

Many thanks to Dr. Mohamed Sherif, Director of Nasser Institute and his staff for their excellent organization and to Dr. Mamdouh Al-Damaty, director of the Egyptian Museum in Cairo for his support.


The Ambassadors