A hiatal hernia occurs when a portion of the stomach pushes upward through the diaphragm and into the chest cavity. The diaphragm is a large, dome-shaped muscle separating the abdomen from the chest. It contains the esophageal hiatus, an opening through which the esophagus passes to meet the stomach. When this opening widens, the upper part of the stomach can protrude, creating the hernia.
The Role of Genetics and Family History
While a hiatal hernia is not typically categorized as a purely inherited disorder, genetics can create a predisposition for its development. The integrity of the esophageal hiatus depends heavily on connective tissue, primarily collagen. Variations in genes responsible for collagen production can lead to weaker supportive tissues throughout the body, making a hernia more likely to form. Individuals with rare inherited connective tissue disorders, such as Ehlers-Danlos or Marfan Syndrome, have a significantly higher risk due to generalized tissue laxity. Hiatal hernias sometimes show a pattern of familial clustering, suggesting a genetic link, and in rare cases, studies have confirmed an autosomal dominant pattern of inheritance.
Primary Acquired Risk Factors
For most individuals, a hiatal hernia develops from acquired factors that weaken the diaphragm or increase pressure within the abdomen. The most common contributing factor is age, as diaphragm muscles and connective tissues naturally weaken and lose elasticity over time, making the condition prevalent in people over 50. This age-related deterioration compromises the integrity of the hiatus. Any chronic condition that increases intra-abdominal pressure is also a factor; obesity is strongly linked because excess abdominal fat exerts constant pressure on the stomach and diaphragm. Repetitive physical strain from activities like heavy lifting, chronic coughing (such as with COPD), or straining during bowel movements can also force the stomach through the weakened hiatus.
Recognizing the Signs
Many small hiatal hernias are asymptomatic and never cause noticeable problems, often discovered incidentally during testing for other conditions. When the hernia is larger or significantly affects the function of the lower esophageal sphincter, symptoms usually emerge. The most common manifestation is heartburn, a burning sensation in the chest caused by gastroesophageal reflux disease (GERD). The hernia compromises the valve mechanism that prevents stomach acid and contents from flowing back into the esophagus, leading to regurgitation (the sour backflow of food or fluid). Other signs include difficulty swallowing, a feeling of food being stuck, non-cardiac chest pain, and sometimes unexplained anemia due to chronic blood loss.
Diagnosis and Management Overview
When symptoms suggest a hiatal hernia, a healthcare provider uses imaging to confirm the diagnosis and assess the hernia’s size and type. A barium swallow (esophagram) involves drinking a chalky liquid that coats the digestive tract, allowing the stomach’s protrusion to be visible on an X-ray. An upper endoscopy (EGD) uses a thin, flexible tube with a camera to directly visualize the esophagus and stomach, checking for the hernia and any associated damage like inflammation or ulcers.
Management focuses primarily on controlling the reflux symptoms caused by the hernia, beginning with conservative lifestyle adjustments. Patients are advised to lose weight, avoid trigger foods like caffeine and spicy items, and avoid eating within a few hours of lying down.
Over-the-counter or prescription medications, such as proton pump inhibitors (PPIs) or H2 blockers, are commonly used to reduce stomach acid production, minimizing the corrosive effects of reflux. Surgical intervention, typically a laparoscopic fundoplication, is reserved for individuals with severe symptoms that do not respond to medication, or for specific types of hernias that pose a risk of complications like twisting or strangulation.