Gastroenterology

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the branch of medicine focused on the digestive system and its disorders. The digestive system consists of the gastrointestinal tract, sometimes referred to as the GI tract, which includes the esophagus, stomach, small intestine and large intestine as well as the accessory organs of digestion which include the pancreas, gallbladder, and liver.

Many gastrointestinal diseases are inherited or have a genetic predisposition involved in

disease expression. Recent research has uncovered the genes responsible for many of

these conditions. Some conditions now have genetic testing available for diagnosis and

for identifying asymptomatic family members. Certain genes have been associated with

other diseases, but the development of the condition is not fully understood. These

developments will continue to change how we diagnose and treat gastrointestinal

conditions.

Among Genetic diseases of gastroenterology, we address genetic testing of inherited colon cancer syndromes, juvenile polyposis, hereditary hemochromatosis, polycystic liver

disease, autoimmune hepatitis, Budd-Chiari syndrome, alpha-1-antitrypsin deficiency, and

Wilson disease. In a coming issue, we will focus on pancreatitis, celiac sprue, Peutz- Jeghers syndrome, neuroendocrine tumors, hereditary hemorrhagic telangiectasia, and

inflammatory bowel disease.

For individuals with hereditary gastrointestinal diseases, genetic counseling and testing

can provide valuable insights into the genetic basis of their condition and help in

managing their health effectively. We offer comprehensive genetic counseling, genetic

testing, and screening of family members for those at risk of genetic disorders affecting

the digestive system and liver

Individuals with signs and symptoms of gastrointestinal disorders. Here are some

common indicators:

• Abdominal pain: Persistent or severe pain in the abdominal area can be a sign of underlying gastrointestinal issues. 
• Constipation or diarrhea: Irregular bowel movements, whether too frequent or infrequent, can indicate gastrointestinal disorders. 
• Bleeding: Any bleeding in the gastrointestinal tract, such as from ulcers or hemorrhoids, should be evaluated by a physician. 
• Iron deficiency anemia: This condition can result from gastrointestinal bleeding and may cause symptoms like dizziness and fatigue. 
• Difficulty swallowing: Trouble getting food down the throat or feeling food getting stuck in the chest may indicate esophageal issues. 

These signs can be indicative of various gastrointestinal disorders, and it is essential to

seek medical advice for proper diagnosis and treatment.

Rapid advances in testing technologies have allowed clinicians to consider genetic testing upfront both to confirm the clinical diagnosis as well as to understand disease mechanisms. 

A confirmed diagnosis is the first step in management and allows discussion of measures to prevent recurrences (applicable only for monogenic disorders) both for the couple as well as their respective families.