Title : Pancreatic lipomatosis in two siblings presenting with steatorrhea: A case report
Abstract:
Pancreatic lipomatosis is a rare disease with an unknown etiology characterized by the replacement of pancreatic acinar cells with adipose tissue associated with preservation of pancreatic duct and islet cell histology.
In this paper, we report the case of two 40- and 46-year-old siblings who both presented with a 10-year history of recurrent steatorrhea aggravated by eating fatty food. The older sibling was diagnosed with papillary thyroid carcinoma and underwent total thyroidectomy. Post-operative monitoring showed recurrent hypocalcemia despite prolonged calcium supplementation warranting further workup for malabsorption. Abdominal CT scan done revealed total fatty replacement of the pancreas with some remnant pancreatic parenchyma. The younger sibling, who had no other associated symptoms nor comorbidities, also underwent a CT scan with the same results. Both patients had low serum lipase levels with normal glycated hemoglobin and serum glucose levels indicating evidence of pancreatic exocrine insufficiency with preserved endocrine function. Low fat diet and pancreatic enzyme supplements were started with improvement of steatorrhea.
Pancreatic lipomatosis (PL) may often be overlooked as a possible cause of malabsorption due to its rarity. However, establishing its diagnosis may easily be done through documentation of typical imaging findings and treatment initiated with dietary modification and pancreatic enzyme supplementation. Isolated cases of pancreatic lipomatosis have been identified with no published reports involving its occurrence in siblings and a familial nature, as documented in this report. Further genetic testing is recommended to establish this association which may aid in future studies involving the prevention and treatment of the disease.
Audience Take Away:
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Total fatty replacement of the pancreas is of clinical significance since it may manifest with pancreatic exocrine insufficiency and resultant deficiencies of fat-soluble vitamins due to malabsorption and steatorrhea-mediated wasting
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Diagnosis of pancreatic lipomatosis is usually established with contributory imaging findings such as diffuse hypoattenuating areas and documentation of a response to empiric treatment with pancreatic enzyme replacement
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In this case report, we presented two siblings with the similar presentation of recurrent steatorrhea and fatty infiltration of the pancreas on CT scan. In our literature search, there have been no published reports clearly establishing a hereditary or familial nature of PL. Thus, this report may be the first to present a possible familial etiology for pancreatic lipomatosis. However, further genetic testing is recommended to confirm this association
