Slone's disease: Difference between revisions
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In 1972 | ==Overview== | ||
Slone's disease is a specific form of [[hereditary pancreatitis]]. It is a rare [[heredity|inherited]] condition characterized by recurrent episodes of acute [[pancreatitis]] attacks. | |||
==Historical Perspective== | |||
In 1972, Robert McElroy and Philip A. Christiansen reported a large pedigree known as the Slone family, residing in the neighbouring state of Kentucky, that was affected with a rare [[autosomal dominant]] form of hereditary pancreatitis.<ref name="pmid5062005">{{cite journal | author = McElroy R, Christiansen PA | title = Hereditary pancreatitis in a kinship associated with portal vein thrombosis | journal = [[The American Journal of Medicine]] | volume = 52 | issue = 2 | pages = 228–41 | year = 1972 | month = February | pmid = 5062005 | doi = | url = http://linkinghub.elsevier.com/retrieve/pii/0002-9343(72)90072-1 | issn = }}</ref> | |||
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Affected individuals usually begin to show symptoms during childhood, suffering severe and untreatable (although not usually life-threatening) bouts of epigastric pain. The sporadic form, which is diagnosed more than 40,000 times each year in the United States, is usually attributable to diets rich in fatty foods or to alcohol, as well as to stress. Hereditary pancreatitis had first been reported in the literature 20 years earlier, in 1952, but although the 'S. family' was one of the largest pedigrees with the disorder on record, the report by McElroy and Christiansen was otherwise fairly unremarkable. The low prevalence and inability to treat the disease did little to generate interest among fellow researchers, and an attempt to map the gene in the late 1970s failed. | |||
But for the Slone family, the disease was anything but rare. Indeed, in large areas of Kentucky, their mysterious ailment was known simply as 'Slone's disease,' reflecting the spread of the branches of the family tree. In 1989, one Slone descendent named Kevin, then a teenager, became so sick that he was admitted to hospital suffering from blood clots in his pancreas | But for the Slone family, the disease was anything but rare. Indeed, in large areas of Kentucky, their mysterious ailment was known simply as 'Slone's disease,' reflecting the spread of the branches of the family tree. In 1989, one Slone descendent named Kevin, then a teenager, became so sick that he was admitted to hospital suffering from blood clots in his pancreas | ||
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Since the first description of a family with hereditary pancreatitis in 1952, only about two families per year on average have been recorded, perhaps explaining in part why study of this rare disease was never a priority for the genetics community. Nevertheless, the identification of the gene offers yet another telling example of how rapidly research can move from linkage to locus. The authors believe their success owes a great deal to the Human Genome Project and the welcome existence of hundreds of kilobases of genomic sequence in their candidate region. It also serves as a testimonial to the tireless cooperation of long-suffering families such as the Slones. After decades of cooperation with the research community, it would be fitting if they can finally reap some benefit. | Since the first description of a family with hereditary pancreatitis in 1952, only about two families per year on average have been recorded, perhaps explaining in part why study of this rare disease was never a priority for the genetics community. Nevertheless, the identification of the gene offers yet another telling example of how rapidly research can move from linkage to locus. The authors believe their success owes a great deal to the Human Genome Project and the welcome existence of hundreds of kilobases of genomic sequence in their candidate region. It also serves as a testimonial to the tireless cooperation of long-suffering families such as the Slones. After decades of cooperation with the research community, it would be fitting if they can finally reap some benefit. | ||
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==Epidemiology and Demographics== | |||
In the United States, the majority of Slones patients have a lineage which can be traced back to Appalachia. It is estimated that at least 1,000 individuals are newly diagnosed with hereditary pancreatitis each year. As genetic testing increases, these numbers may escalate. | |||
==Natural History, Complications and Prognosis== | |||
===Natural History=== | |||
In about half of these cases the problem progresses to [[chronic pancreatitis]], which is severe scarring of the [[pancreas]]. The first attack typically occurs within the first two decades of life, but can begin at any age. | |||
==Diagnosis== | |||
===Symptoms=== | |||
Patients with Slone's disese may have chronic [[abdominal pain]], [[diarrhea]], [[nausea]], [[vomiting]], [[malnutrition]], or [[diabetes]]. | |||
===Laboratory Findings=== | |||
Laboratory tests performed during an attack usually detect high blood levels of [[amylase]] and [[lipase]], which are [[enzyme]]s released from the pancreas. | |||
==Living with Slone's disease== | |||
One patient in western Kentucky was diagnosed with pancreatitis at 6 weeks of age. She continued to have severe episodes of pancreatitis throughout her childhood. In 1990 at the age of 5, she had a Peustow procedure performed at the Mayo Clinic by Dr. Christopher Moir. Despite repeated procedures, she continues to have episodes of [[pancreatitis]]. | |||
== | ==References== | ||
{{Reflist|2}} | |||
==External Links== | |||
* http://freepages.genealogy.rootsweb.com/~fmitchel/sloan/traits.html | |||
* http://www.pancreas.org/assets/hp_presentation/sld001.htm | |||
[[Category:Needs content]] | |||
[[Category:Disease]] | |||
[[Category:Gastroenterology]] | |||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Slone's disease is a specific form of hereditary pancreatitis. It is a rare inherited condition characterized by recurrent episodes of acute pancreatitis attacks.
Historical Perspective
In 1972, Robert McElroy and Philip A. Christiansen reported a large pedigree known as the Slone family, residing in the neighbouring state of Kentucky, that was affected with a rare autosomal dominant form of hereditary pancreatitis.[1]
Epidemiology and Demographics
In the United States, the majority of Slones patients have a lineage which can be traced back to Appalachia. It is estimated that at least 1,000 individuals are newly diagnosed with hereditary pancreatitis each year. As genetic testing increases, these numbers may escalate.
Natural History, Complications and Prognosis
Natural History
In about half of these cases the problem progresses to chronic pancreatitis, which is severe scarring of the pancreas. The first attack typically occurs within the first two decades of life, but can begin at any age.
Diagnosis
Symptoms
Patients with Slone's disese may have chronic abdominal pain, diarrhea, nausea, vomiting, malnutrition, or diabetes.
Laboratory Findings
Laboratory tests performed during an attack usually detect high blood levels of amylase and lipase, which are enzymes released from the pancreas.
Living with Slone's disease
One patient in western Kentucky was diagnosed with pancreatitis at 6 weeks of age. She continued to have severe episodes of pancreatitis throughout her childhood. In 1990 at the age of 5, she had a Peustow procedure performed at the Mayo Clinic by Dr. Christopher Moir. Despite repeated procedures, she continues to have episodes of pancreatitis.
References
- ↑ McElroy R, Christiansen PA (1972). "Hereditary pancreatitis in a kinship associated with portal vein thrombosis". The American Journal of Medicine. 52 (2): 228–41. PMID 5062005. Unknown parameter
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