"For fourteen years I have not had a
real day's health... I have written in bed, and written out of it, written in
hemorrhages, written in sickness...," wrote author Robert Louis Stevenson a few
months before he died. The cause of Stevenson's illness remains unknown, yet a
recent report in the March issue of the American Journal of Medical Genetics
suggests he may have had a disorder called hereditary hemorrhagic
telangiectasia.
"Hereditary hemorrhagic telangiectasia, or HHT, is an inherited condition
characterized by abnormal blood vessels," lead author Dr. Alan E. Guttmacher
told Reuters Health. "These abnormal blood vessels usually lead to the frequent
nosebleeds and reddish spots on the lips, tongue or hands that are called
telangiectasias in medical jargon," he explained.
Guttmacher, senior clinical advisor to the director at the National Human
Genome Research Institute in Bethesda, Maryland, and a colleague searched
Stevenson's letters and diaries, as well as the diaries of his mother, Margaret,
for clues regarding the nature of his chronic illness.
They found that throughout his childhood, Stevenson had frequent episodes of
respiratory illness that were to become even more prominent during his adult
life. And, "starting at 29," the authors report, "he had numerous episodes of
pulmonary bleeding...." Both of these symptoms are suggestive of the infectious
disease tuberculosis.
However, several features of Stevenson's illness conflict with a diagnosis
of tuberculosis. Stevenson "lived for 15 years after the onset of pulmonary
hemorrhages" -- potentially life-threatening bleeding in the lungs. Also, the
authors write that "none of Stevenson's household contacts ever developed
tuberculosis," which argues against the diagnosis.
Stevenson died at the age of 44 of an apparent cerebral hemorrhage --
bleeding into the brain -- which can be caused by HHT, the investigators note.
The authors hypothesize that HHT may also explain Stevenson's mother's medical
history -- pulmonary bleeding and a stroke at 38 years of age.
However, the authors acknowledge that Stevenson's medical history does not
satisfy all of the diagnostic criterion for HHT. Whereas most individuals with
HHT experience recurrent nosebleeds, historical records provide little
indication that Stevenson did. There is also no clear evidence that Stevenson
ever displayed the reddish spots characteristic of telangiectasia.
Yet, the authors point out that there are some adults with HHT who do not
manifest these symptoms. Even when these signs are combined with "a suitable
family history," the number of individuals diagnosed for HHT using that criteria
"accounts for only a proportion of cases," agrees Professor Henri Plauchu from
Hotel Dieu Hospital in Lyon, France, and colleagues in an accompanying
editorial.
"In today's era of molecular genetics, it might be feasible to examine hair
or other remaining tissue from Stevenson for presence of a mutation that causes
HHT," Guttmacher's team concludes. "In the context of his health history, such a
mutation would prove decisively that Stevenson had the disease," they write.
"Whether or not Stevenson truly had HHT is an interesting question primarily
for literary historians and fans of Stevenson," said Guttmacher. "Whether or not
a person with frequent nosebleeds or 'red spots' has HHT is a potentially
life-saving question for them to ask their doctors," he advised. "While long
thought of as an exceedingly rare condition, HHT probably affects about 1 in
every 10,000 of us, or something like 25,000 people in the US alone -- most of
whom don't realize they have the disease," he added.
Guttmacher acknowledged that researchers are trying to find more effective
treatments for HHT. "Perhaps better understanding of the basic biology of HHT
could even lead to significant advances in our approach to such common
conditions as heart disease or stroke," he stated.
