Slone's disease
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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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