Observed genes

Polygenic score

Influential genes: CTRC

Research has demonstrated that variations in the CTRC gene can increase the susceptibility to chronic pancreatitis within European and Asian populations.

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Overview

Pancreatitis is a health condition characterized by an inflammation of the pancreas that can potentially lead to the destruction of its tissue and ultimately result in disorders of pancreatic functions. 

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The Pancreas is an abdominal organ important in converting nutrients from the food we eat into energy. 

It has two main functions: 

• Endocrine: releasing hormones maintaining healthy blood sugar levels directly into the bloodstream (i.e. insulin, glucagon). To understand more about the pancreas and its function as an endocrine gland, visit our article about the endocrine system. 
• Exocrine: producing digestive enzymes that break down nutrients. Those enzymes are produced in the form of pancreatic juice that gets secreted via a tube into the small intestine. 

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Two main clinical units are differentiated - acute and chronic pancreatitis, therefore the article will be furthermore divided. 

• Acute pancreatitis is a state that can develop suddenly and causes great pain to the patient, often leading to hospitalization. It has the potential to cause irreversible damage to the tissue, but it mostly resolves within days with the help of non-invasive therapeutic measures (diet, rest, fluid substitution). 
• Chronic pancreatitis develops slowly over years and causes irreversible damage to the tissue. 

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Epidemiology & Risk factors

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Genetics

Hereditary chronic pancreatitis (HCP) is a rare form of pancreatitis influenced mainly by genetic contributors, however, there are even more forms of the disease. All types of pancreatitis share similar genetic and etiological risk factors (e.g. gallstones, smoking, excessive alcohol consumption, or hypertriglyceridemia).^[5]

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Pancreas disorders are of complex nature and have a strong genetic background. Contemporary research shows that no single gene leads to pancreatitis by itself, most cases of pancreatitis seem to be caused by several variants in the corresponding gene, and of course, the effect of environmental stressors needs to be taken into consideration.^[6]

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HCP, a form of pancreatitis strictly influenced by genetics, was first identified in 1952. It is a rare disease caused by mutations in the PRSS1 gene and is diagnosed mainly among Europeans. Even in the PRSS1 gene, which is the main risk factor in this case, mutations can lead to different clinical consequences.^[7]

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There were not many significant findings in discovering new genes that could contribute to the development of diseases over the past 10 years. However, confirmatory studies and new variations have been published regarding the three main genes in pancreatitis: PRSS1, CFTR, and SPINK1. Genes CTRC and CASR are also involved in pancreatitis development but to a much lesser extent compared to the three main ones. The discovery of genetic epistasis has also been an important and very interesting approach in the research of complex genetic diseases and traits. Because it refers to the ability of one gene to modify the effect of another gene.^[6]

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Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development.

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Signs & Symptoms

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Diagnosis

The diagnostic process begins with a thorough anamnesis focused on the patient’s symptoms and their previous similar experiences. Medical professionals will also ask about any other health conditions that might lead to the development of pancreatitis and a family history of pancreatitis and gallstones. To confirm the diagnosis, blood tests are a key method. They focus on the levels of digestive enzymes (amylase, lipase), high glucose, high fats, and signs of infection. To confirm the diagnosis, imaging methods are indicated, from ultrasound to more complicated methods such as CT scan or MRI. 

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Therapy

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Prevention

Since many of the risk factors are connected with the patient's lifestyle, risks for the development of the disease can be significantly reduced.

• Decrease alcohol consumption - with limiting alcohol consumption, the pancreas is protected from the toxic effects of alcohol. 
• Stop smoking and avoid combining smoking with alcohol.
• Set a healthy lifestyle routine including a healthy diet and exercise. It can prevent risk factors such as obesity and diabetes and lower patients' chances of getting gallstones.  

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Prognosis

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Recommendations

• Don't hesitate to search for help if you drink around 4-5 drinks or more per day.
• Watch your TAG levels. TAG > 11,3 mmol/l is an important risk factor for pancreatitis. 
• Do not combine alcohol with smoking. 
• Avoid foods full of fats. 
• Exercise regularly at least 3 times a week for 30 minutes and more. 
• Walking is one of the best and easiest exercise options. 
• If you experience severe pain in your upper abdominal area, don't hesitate to search for help. 

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