Summary about Disease
Gastrointestinal amyloidosis occurs when abnormal proteins called amyloid build up in the walls of the gastrointestinal (GI) tract. This protein buildup can disrupt the normal structure and function of the digestive organs, leading to a variety of symptoms depending on the location and extent of the amyloid deposits. It is a rare and serious condition.
Symptoms
Symptoms are variable depending on the location and extent of amyloid deposition, but can include:
Esophagus: Difficulty swallowing (dysphagia), chest pain
Stomach: Nausea, vomiting, early satiety (feeling full quickly), abdominal pain, loss of appetite, bleeding
Small intestine: Malabsorption (difficulty absorbing nutrients), diarrhea, weight loss, abdominal bloating
Large intestine: Constipation, diarrhea, bleeding
Generalized: Fatigue, weakness, edema (swelling) due to protein loss. Weight loss.
Causes
Gastrointestinal amyloidosis is caused by the deposition of amyloid proteins in the GI tract. The specific type of amyloid protein and the underlying cause vary:
AL (Immunoglobulin Light Chain) Amyloidosis: This is the most common form. It's caused by a plasma cell disorder in the bone marrow that produces abnormal light chain proteins, which then misfold and form amyloid.
AA (Serum Amyloid A) Amyloidosis: This form is associated with chronic inflammatory conditions like rheumatoid arthritis, inflammatory bowel disease, or chronic infections. The liver produces increased levels of serum amyloid A protein in response to inflammation, which can then misfold and deposit as amyloid.
Hereditary Amyloidosis: This is caused by genetic mutations that lead to the production of abnormal amyloid proteins.
Wild-Type Transthyretin (ATTRwt) Amyloidosis (formerly known as Senile Systemic Amyloidosis): This occurs when the normal transthyretin protein misfolds and aggregates, primarily affecting the heart and nerves, but can also involve the GI tract.
Localized Amyloidosis: In rare cases, amyloid deposition is limited to the GI tract without systemic involvement. The cause of localized amyloidosis is often unknown.
Medicine Used
Treatment depends on the type of amyloidosis and the organs involved.
AL Amyloidosis: Chemotherapy or stem cell transplantation to target the abnormal plasma cells producing the light chains. Medications like bortezomib, cyclophosphamide, daratumumab and melphalan may be used.
AA Amyloidosis: Treatment focuses on managing the underlying inflammatory condition to reduce the production of serum amyloid A protein.
Hereditary Amyloidosis: Liver transplant can be curative for some types. Medications like patisiran, inotersen, and tafamidis can stabilize the transthyretin protein.
ATTRwt Amyloidosis: Tafamidis is used to stabilize the transthyretin protein.
Symptomatic treatment: Medications to manage diarrhea, constipation, nausea, and pain. Nutritional support may also be necessary.
Is Communicable
No, gastrointestinal amyloidosis is not communicable. It is not an infectious disease and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent gastrointestinal amyloidosis because the underlying causes are complex and varied. However, managing chronic inflammatory conditions and following medical advice for conditions that increase the risk of amyloidosis may be beneficial. Genetic counseling may be appropriate for individuals with a family history of hereditary amyloidosis.
How long does an outbreak last?
Amyloidosis is not an "outbreak" type of disease like an infection. It is a chronic condition. Without treatment, the symptoms will continue to worsen over time. With treatment, the progression can be slowed or halted, and in some cases, reversed.
How is it diagnosed?
Endoscopy with Biopsy: This is the most important diagnostic test. A scope is inserted into the GI tract to visualize the lining and obtain tissue samples for analysis.
Congo Red Stain: The biopsy sample is stained with Congo red. If amyloid is present, it will stain red and exhibit apple-green birefringence under polarized light.
Immunohistochemistry: This test helps identify the specific type of amyloid protein present (AL, AA, etc.).
Serum and Urine Tests: To detect abnormal light chains (AL amyloidosis) or elevated serum amyloid A protein (AA amyloidosis).
Bone Marrow Biopsy: To evaluate for plasma cell disorders (AL amyloidosis).
Genetic Testing: For suspected hereditary amyloidosis.
Imaging Studies: CT scans or MRI may be used to assess organ involvement.
Echocardiogram: To evaluate for cardiac involvement, which is common in some types of amyloidosis.
Timeline of Symptoms
The timeline of symptoms is highly variable.
Early stages: Symptoms may be mild and nonspecific, such as fatigue, weight loss, or vague abdominal discomfort.
Progression: As amyloid deposits accumulate, symptoms become more pronounced and specific to the affected organ(s).
Late stages: Severe complications can develop, such as organ failure (e.g., kidney failure, heart failure), severe malabsorption, or gastrointestinal bleeding. The rate of progression also depends on the type of amyloidosis and the effectiveness of treatment. AL amyloidosis can progress rapidly if untreated, while other types may progress more slowly.
Important Considerations
Early Diagnosis is Crucial: Early diagnosis and treatment are essential to prevent organ damage and improve prognosis.
Multidisciplinary Approach: Management requires a team of specialists, including gastroenterologists, hematologists/oncologists, cardiologists, nephrologists, and pathologists.
Individualized Treatment: Treatment plans must be tailored to the specific type of amyloidosis, the organs involved, and the patient's overall health.
Prognosis: The prognosis varies widely depending on the type of amyloidosis, the extent of organ involvement, and the response to treatment. AL amyloidosis generally has a poorer prognosis than other types.
Clinical Trials: Patients may consider participating in clinical trials to access novel therapies.