Medically reviewed and verified by Kate Burke, MD, MHA
Estimated reading time: 4 minutes
Amyloidosis is a rare group of disorders characterized by the abnormal accumulation of amyloid proteins in various organs and tissues throughout the body. While it primarily affects the heart, kidneys, nervous system, and liver, some forms of amyloidosis can also have a notable impact on the digestive system.
When abnormal proteins called amyloids accumulate and form insoluble fibrils, they disrupt the normal function of affected organs. There are several types of amyloidosis, including primary amyloidosis (AL), secondary amyloidosis (AA), and hereditary amyloidosis (ATTR), among others.
Today, we examine how this disease can impact the GI tract. What are the common symptoms, how is it diagnosed, and what are the treatments available? PatientsLikeMe explores them all.
Effects on the Digestive System
Amyloid deposits can accumulate in the gastrointestinal (GI) tract, affecting various parts such as the esophagus, stomach, small intestine, and colon. This can lead to impaired GI function and cause symptoms ranging from mild discomfort to severe complications.
Symptoms
- Dysmotility: Amyloidosis can disrupt the normal movement of the digestive tract, leading to dysmotility. This may result in symptoms such as abdominal pain, bloating, and altered bowel habits.
- Malabsorption: Amyloid deposits in the intestines can interfere with nutrient absorption, causing malabsorption. This can lead to nutritional deficiencies and weight loss.
- Bleeding: In some cases, amyloidosis can cause blood vessels in the GI tract to become fragile and prone to bleeding. This may show up as blood in the stool or anemia.
- GERD: When stomach acid flows back into the tube connecting your mouth and stomach, it causes irritation. This is known as acid reflux. When it happens repetitively, it can lead to a condition called gastroesophageal reflux disease, or GERD. Common symptoms of GERD include heartburn, trouble swallowing, chest pain and an ongoing cough.
Diagnosis
Biopsy
A definitive diagnosis of amyloidosis requires a biopsy of the affected tissue, such as the gastrointestinal mucosa or liver. The biopsy specimen is then examined under a microscope for amyloid deposits.
Imaging Studies
Imaging techniques, such as endoscopy, can visualize the extent of amyloid deposition in the digestive tract. This procedure involves putting a tube-like camera into the body to look inside.
Laboratory Tests
Blood tests may reveal abnormalities, such as elevated liver enzymes or signs of malabsorption. Urine tests are also used, which give a baseline of the disease and general health.
Treatment Options
Management of Symptoms
Treatment aims to manage symptoms and improve quality of life. This may involve dietary modifications, medications to alleviate pain or control symptoms, and nutritional support. Treatment of the underlying disease responsible for the amyloidosis may also improve symptoms for some patients.
Targeted Therapies
For specific types of amyloidosis, targeted therapies are used. These help to reduce the production of abnormal proteins or remove existing deposits.
Organ Transplant
In severe cases, organ transplantation, particularly liver or kidney transplant, may be considered. Replacing the affected organ is highly effective.
Amyloidosis can have a wide impact on the digestive system. This can lead to a range of symptoms and complications. Early diagnosis and appropriate management are crucial to improve outcomes for anyone affected by this rare but serious condition. If you suspect amyloidosis or are experiencing digestive symptoms, it is essential to consult with a healthcare professional for a thorough evaluation and diagnosis.
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