Hereditary Pancreatitis - Causes, Symptoms, and Treatment

Introduction

Hereditary pancreatitis is the inflammation of the pancreas caused by genes. It is a chronic disease that rarely occurs. Hereditary pancreatitis was first described in 1952. The cause of hereditary pancreatitis is genes that affect the mechanism of digestive enzymes in the pancreas. PRSS1, CFTR, SPINK1, and CTRC genes are responsible for causing alteration in the genetic makeup (mutation) responsible for the disease. New mutation in other genes are being discovered.

The environment also plays a role in causing hereditary pancreatitis. The early age patient, approximately 30 years to 40 years, has an increased risk of developing cancer of the pancreas. Hereditary pancreatitis patients may also develop further consequences such as fluid collection in the abdomen and pancreas and improper functioning of the exocrine (a gland with ducts for their secretions) or endocrine (ductless gland) glands. Diagnosing hereditary pancreatitis is difficult as the exact cause is unknown before gene testing.

Treating hereditary pancreatitis is symptomatic such as pain management or removal of the cause (environmental triggers). Rare cases of the disease can be managed with surgery. Early diagnosis and proper medical intervention can cure affected individuals. This article will discuss causes, symptoms, and treatment.

What Is Hereditary Pancreatitis?

The pancreas is an example of an endocrine gland. Hereditary pancreatitis is a rare but acute disease. It is the inflammation of the pancreas. Hereditary pancreatitis has the nature of early onset of disease. Patient with hereditary pancreatitis has an increased risk of pancreatic cancer. Chronic pancreatitis is a disease with both a high mortality rate and cost burden. Chronic pancreatitis is the seventh most common digestive disease diagnosis in hospitalized patients. Pancreatitis occurs in five out of 100,000 people in the US, with an annual prevalence of 50 people out of 100,000.

What Are Causes Of Hereditary Pancreatitis?

Hereditary pancreatitis (HP) is caused by a mutation of the gene, and it is inherited by the family. HP may also be considered if the family history suggests the previous history of the disease in the absence of the mutation. 44.5 % of cases of hereditary pancreatitis were caused by alcohol use. The non-alcohol cases of hereditary pancreatitis are around 9 %. More than 50 % of cases are caused due to genes. The alteration in the gene (mutation) is the main cause of hereditary pancreatitis. The condition is frequently linked to the PRSS1 gene mutations. Rarely other mutations leading to HP are inherited.

HP has been found to have a mutation in the PRSS1 gene in up to 80 % of patients. Another gene that has been found to cause HP is SPINK1. The loss-of-function mutations in SPINK1 lead to decreased levels of the inhibitor protein and cause increased susceptibility to pancreatitis.

The following are the causes of hereditary pancreatitis:

• Mutation in the gene (mainly PRSS1, CFTR, SPINK1, and CTRC genes).

• Alcohol.

• Autoimmune factors (it is a condition in which the body starts attacking its own cells).

• Hypertriglyceridemia (a condition in which there is an increased amount of triglycerides in the blood).

• Pancreas divisum (a condition in which the pancreatic duct is absent).

• Gallstones (a condition in which stones accumulate in the gallbladder).

• Pancreatic cancer.

• Smoking tobacco.

• History of diabetes mellitus.

What Are the Symptoms Of Hereditary Pancreatitis?

The clinical features of HP may present during the natural history of the disease. The patients and their families face unique challenges due to the early onset of this disease.

The following are the symptoms of hereditary pancreatitis:

• Sudden chronic pain in the abdominal area.

• Nausea.

• Vomiting.

• Pain in the middle region of the stomach.

• Backache (abdominal pain radiated to the back).

• Fibrosis (the process of tissue scarring).

• Fluid collection in the abdomen.

• Pancreatic duct stone formation.

• Malabsorption (improper absorption of the nutrients in the body).

• Steatorrhea (a condition in which patients suffer from fatty stools).

• Exocrine insufficiency.

• Obstruction in the pancreatic duct.

• Weight loss.

How Is Hereditary Pancreatitis Diagnosed?

The diagnosis of hereditary pancreatitis is difficult. HP patients have often been initially misdiagnosed with idiopathic pancreatitis.

The diagnosis of hereditary pancreatitis involves:

• Detailed personal history to look for the clinical symptoms.

• Extended family history to identify possible inheritance patterns.

• Radiographic imaging to evaluate for signs of acute or chronic pancreatitis.

• Endoscopic ultrasound helps to visualize inside the abdomen with the help of an endoscope (a device that can be inserted into the body to give a view of its internal parts).

• Endoscopic retrograde cholangiopancreatography (ERCP).

• Genetic testing for detecting a mutation in the PRSS1, CFTR, SPINK1, and CTRC genes.

What Are the Treatments of Hereditary Pancreatitis?

The patients with HP are managed by preventative measures, medical management, and endoscopic and surgical intervention if needed in rare cases.

The following are the treatment options for patients with HP:

• Prevention - There are no known methods to prevent disease development or progression. The patients can avoid environmental triggers to prevent HP, as environmental triggers are known to exacerbate and worsen pancreatitis. Dietary fat and emotional stress are considered triggers and should also be avoided. Smoking tobacco should be avoided, as it increases the risk of pancreatic cancer. No safe amount of alcohol use has been documented for people with hereditary pancreatitis. Few drugs known as drug-induced pancreatitis (such as angiotensin-converting enzyme inhibitors and selective serotonin reuptake inhibitors) should be used precisely.

• Medical Management - Removing the cause is the first step to cure HP. The medicine for pain control is used. The use of tricyclic antidepressants or Gabapentin may be helpful in pancreatitis-related pain in some patients. Nonsteroidal anti-inflammatory agents are preferred for pain relief. Opioid analgesics for pain relief are contraindicated due to intolerable side effects.

• Endoscopic Therapy - Endoscopy can be extremely useful in managing the consequences of HP and pain. An endoscope is an instrument inserted in the abdomen to visualize the defect. The obstructed pancreatic ducts are cleared by endoscopy with the help of ERCP, which has resulted in the treatment of chronic pancreatitis sufferers' long-term pain.

• Surgical Therapy – The operative management of pancreatic cancer or drainage of pancreatic cysts may be indicated beyond endoscopic therapy. Surgical options such as partial removal of the pancreas (partial pancreatectomy) and total pancreatectomy are suggested for pancreatic cancer.

Conclusion

HP is a rare acute disease. Mutation in genes is known to be the cause of HP. Thus, advising patients with HP to avoid medications and environmental triggers known to exacerbate pancreatitis, such as tobacco, alcohol, and a high-fat diet, is essential in management. Patients with HP without pancreatic cancer do not have an increased death rate compared to the general population. However, patients experience reduced quality of life due to their symptoms and the frequent need for interventions and hospitalizations. Proper medical management is hoped to offer more timely triage to the best care for each patient.