He presented with greasy-oily stools since infancy, but growth and development have been normal. No other cause for exocrine pancreatic insufficiency could be found. [ncbi.nlm.nih.gov]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. [malacards.org]

The material presented has been obtained from several textbooks on biochemistry and from a variety of recent articles in the scientific literature. [books.google.com]

The pancreatic lipase enzyme breaks down fat present in the food, i.e., it helps in fat emulsification and metabolism. The enzyme plays a very vital part in the process of digestion, assimilation and transport of lipids. [tandurust.com]

• Weight Gain

  In a double-blind randomized study of children with celiac disease, the children who received pancreatic enzyme therapy (including lipase), had a modest weight gain compared to those who received placebo. [draxe.com]

  Favorable clinical responses include weight gain, fewer bowel movements, elimination of oil droplet seepage, increases in levels of fat-soluble vitamins, and improved well-being. [merckmanuals.com]

• Steatorrhea

  Pancreatic enzyme replacement therapy (replacement of deficient hormones to treat pancreatic insufficiency) is used to treat steatorrhea. [merckmanuals.com]

  The levels of steatorrhea seen in CP tend to be much higher (often > 20 g/day). [pancreapedia.org]

  This is used to identify lipids in the stool which results in steatorrhea. A test for the presence of proteins in the stool (creatorrhea) may also be conducted but should be further assesed for the type of protein. [healthhype.com]

  Current data may suggest a trial of acid blockers in patients with CF who have refractory steatorrhea [ 61 – 65 ]. [bmcmedicine.biomedcentral.com]

  C 21 – 26 Pancreatic enzyme supplementation is indicated for steatorrhea and malabsorption and may help relieve pain in patients with chronic pancreatitis. [aafp.org]

• Acute Abdomen

  At all ages, the most common clinical manifestation is recurrent abdominal pain and acute pancreatitis. The pain may be epigastric, with radiation to the back, or it may be diffuse, with the appearance of an emergent acute abdomen. [en.wikipedia.org]

  It may be diffuse and mimic an acute abdomen, often leading to unnecessary abdominal exploratory surgery. The pain can vary from mildly bothersome to incapacitating. The pain may result from chylomicronemia or from pancreatitis. [diet-and-health.net]

  The pain may be located in the upper, central region (epigastric area) of the abdomen and can radiate to cause back pain. In some cases, the pain may be widespread (diffuse) and can potentially resemble acute abdomen (peritonitis). [rarediseases.org]

• Chronic Diarrhea

  Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report. World J Gastroenterol. 2005;11(15):2364–6. Hamilton J, Jones I, Srivastava R, Galloway P. [revistagastrocol.com]

  Many physicians do not realize the need to have formed stools analyzed and thus, in chronic diarrhea, this may be problematic. Ultimately, what is critical is the early diagnosis and optimization of treatment of EPI. [bmcmedicine.biomedcentral.com]

• Blood in Stool

  These tests involve blood or stool samples. The serum trypsinogen test is an inexpensive test and is available through commercial laboratories. Very low levels of serum trypsinogen (< 20 ng/mL) are highly specific for chronic pancreatitis. [merckmanuals.com]

• Heart Disease

  Cardiac Catheterization : A heart procedure used to diagnose heart disease. [webmd.com]

  However, high triglyceride levels can raise your risk for heart disease and can also be a sign of metabolic syndrome. That’s just one of the reasons why it’s so important to have lipase doing its job! [draxe.com]

  Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease. Eur Heart J. 2013;34(45):3478–90. Mata P, Alonso R, Ruíz-García A, et al. [revistagastrocol.com]

  Some individuals with familial LPL deficiency have developed premature atherosclerosis, which is characterized by thickening and obstruction of various blood vessels due to the accumulation of fatty material, potentially causing coronary heart disease [rarediseases.org]

• Eruptions

  Eruptive xanthomas are generally not painful or tender, unless they develop on an area of the body where they suffer repeated trauma or abrasion. [rarediseases.org]

  The disease is usually detected in childhood based on repeated episodes of abdominal pain, recurrent attacks of pancreatitis, eruptive cutaneous xanthomatosis, and hepatosplenomegaly. [ommbid.mhmedical.com]

  Other typical symptoms are eruptive xanthomas (in about 50% of patients), lipemia retinalis and hepatosplenomegaly. [en.wikipedia.org]

  Familial lipoprotein lipase deficiency usually presents in childhood with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. [diet-and-health.net]

  […] abdominal pain (daily low-level to debilitating) nausea diarrhea bloating physical weakness constipation indigestion acute pancreatitis fatigue impaired memory difficulty concentrating and problem solving “brain fog” anxiety/fear/worry about health eruptive [pancreasfoundation.org]

References Malabsorption Syndromes Differential Diagnosis & Workup. Emedicine Malabsorption Syndromes. Merck Last updated on September 5, 2018. [healthhype.com]

[…] may go undetected because the signs and symptoms are similar to those of other gastrointestinal (GI) diseases [5] or because the signs and symptoms are not always evident, due to dietary restrictions (see Presentation and Differential Diagnosis). [6] Workup [emedicine.medscape.com]

Clinical Testing and Workup Blood tests can reveal reduced activity of the lipoprotein lipase enzyme in the plasma, following intravenous administration of heparin. [rarediseases.org]

• Hypoglycemia

  Patients also are at risk of hypoglycemia because pancreatic alpha cells, which produce glucagon (a counter-regulatory hormone), are lost. [merckmanuals.com]

  In addition, since about half the protein you digest is converted to sugar, protease deficiency and inadequate protein digestion can lead to hypoglycemia (low blood sugar), with such symptoms as moodiness, depression, and irritability. [dcnutrition.com]

Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances. [books.google.de]

Pancreatic Lipase Deficiency Treatment By and large, a mild deficiency does not need treatment / supplementation. However, in cases of severe deficiency, you need to supplement the enzyme level. [tandurust.com]

[…] medical treatments; therefore, the physician and patient must carefully weigh the risks and benefits of each intervention. 11 View/Print Table Table 5 Chronic Pancreatitis Treatment Options Treatment type Options Medical Analgesics (stepwise approach [aafp.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment rarely begins straight away, due to the slow-developing nature of the condition. There is no danger in waiting for a formal diagnosis before beginning treatment. [medicalnewstoday.com]

Pain control Pancreatic enzyme supplements Management of diabetes Management of other complications The prognosis for chronic pancreatitis is variable and relatively poor. [merckmanuals.com]

The study included 227 patients. [20] Epidemiology and Prognosis Because EPI has multiple possible causes and is not usually recorded as a medical statistic, its prevalence and demographics cannot be established with certainty at present. [emedicine.medscape.com]

The etiology of this deficiency includes pancreatic and nonpancreatic causes (see Etiology). [1] The exocrine pancreas produces three main types of enzymes: amylase, protease, and lipase. [2] Under normal physiologic conditions, the enzymes (specifically [emedicine.medscape.com]

(Etiology) Familial Lipoprotein Lipase Deficiency is generally caused by a defective gene coding for lipoprotein lipase enzyme that is passed down in families. As a result, individuals with the condition lack this particular enzyme. [dovemed.com]

However, direct comparisons of pancreatic exocrine function in patients with varying etiologies of chronic pancreatitis have been few, so far (38). [pancreapedia.org]

The etiology is multifactorial. Alcoholism plays a significant role in adults, whereas genetic and structural defects predominate in children. The average age at diagnosis is 35 to 55 years. [aafp.org]

Numerous conditions account for the etiology of EPI, with the most common being diseases of the pancreatic parenchyma including chronic pancreatitis, cystic fibrosis, and a history of extensive necrotizing acute pancreatitis. [bmcmedicine.biomedcentral.com]

The 4th edition includes an entirely new section on pediatric obesity: epidemiology, pathophysiology, assessment and treatment. It includes new chapters on celiac disease, food allergies and iron. [books.google.com]

Relevant External Links for PNLIP Genetic Association Database (GAD) PNLIP Human Genome Epidemiology (HuGE) Navigator PNLIP Atlas of Genetics and Cytogenetics in Oncology and Haematology: PNLIP No data available for Genatlas for PNLIP Gene Polymorphisms [genecards.org]

The epidemiology and impact of pancreatic diseases in the United States. Curr Gastroenterol Rep. 2005 May. 7(2):90-5. [Medline]. de la Iglesia D, Vallejo-Senra N, Lopez-Lopez A, et al. [emedicine.medscape.com]

[…] treated with it commercially. [7] A total of 31 patients were treated with Glybera, most for free in clinical trials before the drug was taken off the market. [8] Incidence [ edit ] The disorder affects about 1 out of 1,000,000 people; [9] however, epidemiological [en.wikipedia.org]

Dietary sources, bioactivities, bioavailability, and epidemiology. Nutrition Research. 24: 851-874. [ Links ] Gasymov, O.K., Glasgow, B.J. 2007. ANS fluorescence: Potential to augment the identification of the external binding sites of proteins. [scielo.org.mx]

Among the pediatric texts available, none deals with the physiologic or pathophysiologic basis of nutrition in pediatric health and disease in children of all ages. [books.google.com]

Pathophysiology The GI tract is responsible for digesting and absorbing food. [7] Lipids provide the richest source of energy for the body, with 9 calories in every gram of fat; in comparison, carbohydrate and protein contains 4 calories per gram. [emedicine.medscape.com]

Although these lipases are implicated in the pathophysiology of hyperlipidemia and atherosclerosis, their structures have not been fully solved. [journals.plos.org]

Most studies of the pathophysiology of chronic pancreatitis are performed with patients who drink alcohol. [aafp.org]

Pathophysiologically, diabetes mellitus can predispose to EPI and, conversely, longstanding EPI can be associated with diabetes [ 35 – 39 ]. [bmcmedicine.biomedcentral.com]

Your provider will likely recommend that eat no more than 20 grams of fat per day to prevent the symptoms from coming back. [medlineplus.gov]

Orlistat works by preventing the action of enzymes in the digestive process, interfering with the absorption of approximately 1/3 of the fat eaten in the diet. [diet-and-health.net]

The valve's role is to prevent blood from leaking back into the left ventricle from the aorta after it has been ejected from the heart. [webmd.com]

The build-up of this scar tissue prevents the digestive enzymes from leaving the duct. Research has confirmed a link between smoking and the development of chronic pancreatitis. [medicalnewstoday.com]