Hereditary Pancreatitis- Causes, Diagnosis, and Treatment

Creator: Dr. Asna Fatma
Published: 2023-05-17T16:05:35

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Hereditary pancreatitis is a genetic disorder characterized by inflammation of the pancreas in episodes. Read further to know more about this condition.

Written by

Dr. Asna Fatma

Medically reviewed by

Dr. Kaushal Bhavsar

May 17, 2023

October 19, 2023

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Contents

What Is the Pancreas?
What Is Hereditary Pancreatitis?
What Causes Hereditary Pancreatitis?
How Common Is Hereditary Pancreatitis?
What Are the Symptoms of Hereditary Pancreatitis?
How Is Hereditary Pancreatitis Inherited?
How Is Hereditary Pancreatitis Diagnosed?
How Is Hereditary Pancreatitis Treated?

Introduction:

Hereditary pancreatitis is a rare genetic condition affecting the pancreas. The condition is characterized by sudden episodes of inflammation of the pancreas. The symptoms of hereditary pancreatitis include sudden epigastric pain, which is usually accompanied by nausea and vomiting, fever, abdominal discomfort, flatulence, bloating, etc. Hereditary pancreatitis occurs due to mutation (alteration in the gene sequence) of the trypsinogen gene. Moreover, the condition is associated with several risk factors like smoking, alcoholism, etc., which can increase the risk of these episodes of inflammation. In addition, hereditary pancreatitis also increases the risk of certain conditions like chronic pancreatitis, pancreatic cancer, etc.

What Is the Pancreas?

The pancreas is an organ (and gland) located at the back of the stomach; it is a part of the digestive system. The pancreas performs exocrine (secretes hormones and lets them enter ducts) and endocrine (secretes certain hormones and flushes them into the circulating blood) functions. The exocrine function includes the production of enzymes (lipase, amylase, and protease) that helps in the digestion of food. At the same time, the endocrine functions include insulin and glucagon secretion. About 99 % of the pancreas function as an exocrine, and only about 1 % of it functions as an endocrine gland. One of the prevalent medical conditions affecting the pancreas is the inflammation of the gland, which is known as pancreatitis. There are primarily two types of pancreatitis; acute and chronic.

What Is Hereditary Pancreatitis?

Pancreatitis is the inflammation of the pancreas due to several causes. The inflammation may be acute or chronic. Comfort and Steinberg first described hereditary pancreatitis in the year 1952. Hereditary pancreatitis is a genetic disorder of the pancreas characterized by episodes of pancreatic inflammation. These episodes of inflammation can cause pancreatic tissue damage or loss of gland function. These recurrent episodes of inflammation can subsequently progress to chronic pancreatitis. Moreover, hereditary pancreatitis is also associated with an increased risk of pancreatic cancer. There is a 40 % lifetime risk of developing pancreatic cancer in individuals affected by hereditary pancreatitis.

What Causes Hereditary Pancreatitis?

Hereditary pancreatitis is a genetic disorder that develops due to genetic mutation (variations in the genetic coding).
The gene PRSS1 (serine protease 1) is most frequently associated with the development of hereditary pancreatitis.
PRSS1 is also known as the trypsinogen gene because this gene provides instructions for the formation of the enzyme cationic trypsinogen.
The cationic trypsinogen enzyme is primarily produced in the pancreas, and it aids in the digestion of food. After production in the pancreas, the enzyme is transported into the small intestine and converted into its active form, trypsin.
According to studies, the PRSS1 gene is mutated in 65 % to 80 % of cases of hereditary pancreatitis. The remaining cases are caused by mutations in other genes, some of which are still unknown.

How Common Is Hereditary Pancreatitis?

Hereditary pancreatitis is a rare medical condition.
Approximately 1,000 people are affected by hereditary pancreatitis in the United States.
Moreover, the incidence rate in Europe is suspected to be three to six individuals per million population.

What Are the Symptoms of Hereditary Pancreatitis?

While symptoms may appear soon after birth, the timing of their appearance frequently varies, with some patients not showing any symptoms until they are adults. Moreover, the common signs and symptoms of hereditary pancreatitis are:

A sudden attack of abdominal pain or epigastric pain.
Nausea and vomiting.
Fever.
The episodes of attack typically last for one to three days, but they may last longer in some individuals.
Hereditary pancreatitis leads to recurrent acute pancreatitis, which is marked by repeated episodes of acute pancreatitis that recur for a year; the number of episodes experienced by a person varies.
Recurrent acute pancreatitis subsequently causes chronic pancreatitis, which occurs when the pancreas is inflamed for a long time. The symptoms of chronic pancreatitis include; frequent pain in the abdomen of varying severity, flatulence (gas formed in the stomach causing discomfort), bloating, etc.
Several people with hereditary pancreatitis develop pancreatic calcifications, the atypical calcium deposition in the pancreas.
Jaundice (yellow discoloration of the skin due to increased bilirubin level).
Leukocytosis (increase in the number of white blood cells).
Prolonged inflammation of the pancreas can severely damage the organ, resulting in the development of scar tissue (fibrosis) in the place of normal pancreatic tissues.
Damage to the healthy pancreatic tissues can lead to pancreatic function loss. This loss of function will lead to impairment of the digestive functions of the gland. Symptoms of digestive impairment include; steatorrhea (fat in the stool), unusual weight loss, and deficiency of vitamins and proteins.
Development of type 1 diabetes mellitus.

How Is Hereditary Pancreatitis Inherited?

Hereditary pancreatitis is a hereditary disorder which means the condition is genetically passed down from parents to their children.
One mutated copy of the gene in each cell is enough to cause hereditary pancreatitis since hereditary pancreatitis has an autosomal dominant inheritance pattern.
About 20 % of individuals with the mutated PRSS1 gene never develop pancreatitis. However, it is unknown why some individuals with a mutated gene never show symptoms of the condition.

How Is Hereditary Pancreatitis Diagnosed?

The diagnosis of hereditary pancreatitis is done in the following ways:

Symptoms: Characteristic episodes of pancreatic inflammation, which causes epigastric pain accompanied by nausea and vomiting, fever, flatulence, etc., can be an indication of hereditary pancreatitis.
Family History: Since hereditary pancreatitis is an inherited condition, it is crucial to know the patient’s family history. Any history of the disease in first-degree relatives can help in confirming the diagnosis as this disease runs in the families. When two or more members of a close family, such as parents, siblings, or children, experience recurrent pancreatitis throughout the course of at least two generations, hereditary pancreatitis is suspected.
Genetic Testing: Genetic testing is the definitive diagnostic criteria. This test will help in determining the presence of any genetic mutation in the PRSS1 gene.

How Is Hereditary Pancreatitis Treated?

Hereditary pancreatitis has no definitive treatment yet. The preferred medical care strategy for hereditary pancreatitis is to alleviate and treat the symptoms that are associated with the condition. Some of the standard measures used to manage the condition are:

Supplements: Hereditary pancreatitis patients are often advised to take supplements of pancreatic enzymes and nutritional supplements. These supplements help in improving digestion and treating maldigestion. In addition, pancreatic enzyme supplements such as Creon, Pancrease, and Violiase can improve digestion and lessen diarrhea and pain for certain people with more severe conditions.
Insulin: Insulin therapy is advised in patients with diabetes as the pancreas usually loses the ability to insulin production due to a generalized loss of function.
Pain Management: Sudden episodes of pancreatic inflammation cause severe epigastric or abdominal pain, and these pain attacks are usually managed with the help of analgesic and narcotic (painkillers) medications.
Lifestyle Modification: Lifestyle changes are one of the most crucial steps in managing hereditary pancreatitis. The patient is advised to quit smoking and alcohol consumption as these are the risk factors that increase the frequency of inflammation and the risk of pancreatic cancer.
Diet: Small meals divided throughout the day that are heavy in carbohydrates and low in protein and fat are among the dietary suggestions that can help manage digestive discomfort.

Conclusion:

The prognosis of hereditary pancreatitis is pretty good, and there is no increased mortality associated with the condition, even though hereditary pancreatitis increases the risk of pancreatic cancer development. Smoking and drinking are known to significantly increase the risk of pancreatic attacks in people with hereditary pancreatitis. As smoking doubles the risk of pancreatic cancer, it is strongly advised against it. Additionally, as alcohol is a proven risk factor for both acute and chronic pancreatitis, it is also not recommended.

Frequently Asked Questions

1. What Leads to the Development of Hereditary Pancreatitis?

Hereditary pancreatitis is characterized by the repetitive inflammation of the pancreas. This condition is brought about by mutations in specific genes, with a noteworthy connection to the PRSS1 gene, also known as serine protease 1. The PRSS1 gene holds the key to the production of an important enzyme called cationic trypsinogen. It is worth noting that this gene mutation is responsible for approximately 65 to 80 percent of cases, while the origins of the remaining cases are still a mystery.

2. Which Genetic Mutations Are Frequently Observed in the Onset of Pancreatic Cancer?

Several genetic mutations have been linked to pancreatic cancer, each with its unique role in the development of the disease:
- KRAS (Kirsten Rat Sarcoma Viral Oncogene Homolog): This is the most common mutation associated with pancreatic cancer, and it plays a pivotal role in promoting uncontrolled cell growth.
- CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A): Mutations in CDKN2A result in products that help regulate cell division.
- BRCA1 and BRCA2 (Breast Cancer Susceptibility Genes 1 and 2): These genes, while primarily known for their association with breast and ovarian cancers, are also linked to an increased risk of pancreatic cancer.
- TP53 (Tumor Protein P53): TP53 is a tumor suppressor gene responsible for maintaining the integrity of the cell cycle and repairing damaged DNA.

3. Which Gene Mutations Are Inherited in Cases of Pancreatic Cancer?

Inherited genetic changes, often referred to as germline mutations, can play a significant role in the risk of developing pancreatic cancer. Some notable genes associated with such mutations include:
- BRCA1 and BRCA2 Mutations: Mutations in these genes are well-known for their links to breast and ovarian cancers, but they also elevate the risk of pancreatic cancer.
- PALB2 (Partner and Localizer of BRCA2) Mutation: PALB2 mutations can increase the likelihood of developing pancreatic cancer.
- CDKN2A Mutations: Alterations in the CDKN2A gene can raise the risk of various cancers, including pancreatic cancer.
- ATM (Ataxia-Telangiectasia Mutated) Gene: Mutations in the ATM gene can compromise DNA (deoxyribonucleic acid) repair mechanisms.
Additionally, mutations in DNA mismatch repair genes, such as MLH1, MSH2, MSH6, and PMS2, which are associated with Lynch syndrome, also have an increased susceptibility to pancreatic cancer.

4. Is There a Connection Between BRCA1 and the Occurrence of Pancreatic Cancer?

Indeed, there is a notable connection between the BRCA1 gene and the development of pancreatic cancer. While BRCA1 is commonly associated with breast cancer, individuals who inherit mutations in this gene face a higher-than-average risk of developing this form of cancer. The reason behind this increased risk lies in BRCA1's role in DNA repair. BRCA1 mutations can compromise the cell's ability to effectively repair damaged DNA, leading to genetic instability.

5. What Genetic Markers Are Linked to Hereditary Forms of Cancer?

Certain genetic mutations have been linked to hereditary forms of cancer. These mutations can significantly increase an individual's risk of developing cancer. Some notable genes associated with hereditary cancer syndromes include:
- BRCA1 and BRCA2: Mutations in these genes are known to increase the risk of breast and ovarian cancer in individuals carrying them.
- TP53 Gene: Mutations in TP53 are associated with Li-Fraumeni syndrome, which elevates the risk of various cancers, including breast, bone, and brain cancers.
- APC Gene: Mutations in the APC gene are responsible for familial adenomatous polyposis (FAP), a condition predisposing individuals to colon cancer.
- MLH1, MSH2, MSH6, PMS2, and EPCAM: Mutations in these genes are connected to Lynch syndrome, which is characterized by a higher susceptibility to colorectal and other cancers.
- PTEN Gene: Cowden syndrome results from mutations in the PTEN gene, leading to an increased risk of breast, thyroid, and uterine cancers.
- STK11 Gene: Peutz-Jeghers syndrome, caused by mutations in the STK11 gene, is linked to a higher likelihood of developing various cancers, including colorectal and breast cancer.

6. How Can One Determine if Pancreatitis Has a Hereditary Component?

Identifying the hereditary aspect of pancreatitis entails a comprehensive assessment of various factors. To begin, a detailed review of an individual's medical history is critical, encompassing the severity of pancreatitis episodes and factors like underlying risks and triggers. Equally important is the scrutiny of family medical history; when multiple cases of pancreatitis exist within a family, it can strongly suggest a hereditary link. For conclusive confirmation, genetic testing may be recommended to pinpoint any specific mutated genes associated with hereditary pancreatitis. However, it is worth noting that not all cases of pancreatitis have a hereditary basis; some arise from a complex interplay of environmental and lifestyle influences.

7. What Stands as the Primary Cause of Hereditary Pancreatitis?

The primary cause of hereditary pancreatitis can often be traced back to specific genetic mutations. Among these mutations, the PRSS1 gene stands out as the most frequently implicated culprit. This gene is responsible for encoding cationic trypsinogen, an enzyme that serves as a precursor to trypsin. However, in cases of hereditary pancreatitis, a malfunction in the regulation of trypsin activation can lead to pancreatic inflammation. What is interesting is that these genetic conditions typically follow an autosomal dominant inheritance pattern, wherein the presence of just one mutated gene from either parent is sufficient to manifest the condition.

8. Who Faces the Highest Risk of Developing Pancreatitis?

Pancreatitis does not discriminate by age but can be influenced by various risk factors. These include heavy alcohol consumption, the presence of gallstones obstructing the pancreatic duct, smoking tobacco, and obesity, all of which can contribute to both chronic and acute forms of pancreatitis. Additionally, certain medications like diuretics and immunosuppressants, a family history of pancreatitis, past abdominal trauma or infections, and autoimmune conditions such as autoimmune pancreatitis can also heighten the risk of developing this pancreatic inflammation.

9. What Is the Typical Lifespan of Individuals With Hereditary Pancreatitis?

The lifespan of individuals affected by hereditary pancreatitis can differ significantly from one person to another. This variation hinges on the degree of severity associated with their condition. However, regardless of the severity, early diagnosis and effective management of hereditary pancreatitis play a pivotal role in enhancing the quality of life for those affected. Part of this management involves addressing potential complications that can arise, such as pancreatic pseudocysts, diabetes, and malabsorption of nutrients.

10. Can Pancreatitis Be Permanently Resolved?

The resolution of pancreatitis hinges significantly on both its severity and underlying cause. In the case of acute pancreatitis, the inflammation typically subsides, and individuals can experience a full recovery with no long-term issues. Most often, they can return to normal pancreatic function within a relatively short period of one to two weeks. In contrast, chronic pancreatitis is an entirely different scenario. This condition is characterized by its long-term nature and is not usually reversible like acute pancreatitis. Instead, it can lead to enduring complications such as persistent pain, digestive problems, and even diabetes.

11. How Prevalent Is Hereditary Pancreatitis in the Population?

Hereditary pancreatitis is a relatively uncommon genetic disorder with a low prevalence in the general population. It represents only a small proportion of all cases of pancreatitis. The specific prevalence of hereditary pancreatitis can vary from one region or population group to another, but it remains generally classified as a rare condition.

12. What Methods Are Employed to Diagnose Hereditary Pancreatitis?

Diagnosing hereditary pancreatitis involves several key indicators. Patients may present with symptoms like nausea, vomiting, flatulence, and fever, which can be suggestive of the condition. However, a crucial component in the diagnostic process is the family history. If two or more close family members have experienced pancreatitis, hereditary pancreatitis is suspected. To confirm the diagnosis definitively, genetic testing is employed, specifically looking for mutations in the PRSS1 gene.

13. What Is the Lifetime Likelihood of Experiencing Pancreatitis?

The risk of developing pancreatitis is influenced by a range of factors. In acute pancreatitis, high-risk groups often consist of heavy alcohol consumers or those with a history of gallstones, both of which can trigger the condition. Chronic pancreatitis, on the other hand, is associated with risk factors like heavy alcohol consumption and genetic predispositions. In the case of hereditary pancreatitis, it is noteworthy that around 80 percent of affected individuals will experience symptoms before reaching 20 years of age. Over their lifetime, these individuals face a significant risk, estimated at about 40 to 55 percent, of developing pancreatitis due to the hereditary component.

14. Can Individuals Resume a Normal Life After an Episode of Acute Pancreatitis?

Recovery from pancreatitis varies depending on its severity. In cases of mild acute pancreatitis, complications are generally less severe, and individuals tend to recuperate relatively quickly. However, severe acute pancreatitis can lead to more complex issues, such as tissue necrosis or organ failure, and the recovery process may be considerably longer and more challenging. The underlying cause of pancreatitis plays a critical role in determining the course of recovery, as addressing these root causes can significantly reduce the risk of recurrence.

Sources

Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)

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