What are the other Names for this Condition? (Also known as/Synonyms)

• Amyloidosis-Associated Bladder Disease
• Amyloid Tumor of Urinary Bladder
• Urinary Bladder Amyloidosis

What is Amyloidosis of Urinary Bladder? (Definition/Background Information)

• Amyloidosis is a group of disorders in which the ‘amyloid protein’ builds up in many organs and tissues of the body. The term “amyloid” is used for protein molecules of any type that stick together owing to misfolding (or incorrect formation of the proteins)
• These protein aggregates are abnormally-formed and arranged into fibrils (slender fibers). An amyloid build-up can occur locally in only one organ, or may occur throughout the body
• The deposition of amyloid protein on the cells of the urinary bladder causes Amyloidosis of Urinary Bladder. The condition is mostly observed in older men and women
• There are 5 major types of amyloidosis, all of which can lead to Urinary Bladder Amyloidosis:
  • AL amyloidosis that occurs when bone marrow produces too much amyloid protein, creating light (L) chains
  • AA amyloidosis, when amyloid proteins build up secondary to a chronic disease
  • Hereditary amyloidosis: It is an inherited form of the disease; the amyloid build-up primarily affects the kidneys and nerves
  • Wild-type ATTR amyloidosis: This form leads to amyloid protein deposits in elderly adults, particularly in the heart and tendons
  • Dialysis-related amyloidosis: This occurs in individuals who have undergone dialysis for a long time. The amyloid protein tends to get deposited in the tendons and joints
• Amyloidosis of Urinary Bladder generally occurs as localized disease of the AL type. However, it can also develop as a manifestation of systemic AA/AL or familial amyloidosis
• Individuals with the disorder may have symptoms of reduced urine output, blood in urine, painful urination, and lack of urination control. When present secondary to systemic conditions, other amyloidosis associated symptoms may also be noted
• The symptoms of Amyloidosis of Urinary Bladder may be addressed with treatment. However, in primary localized form, the probability of recurrent amyloid deposition is high. In systemic disease, the prognosis of Amyloidosis of Urinary Bladder is primarily determined by the outcome of the primary disease (amyloidosis) causing it

Who gets Amyloidosis of Urinary Bladder? (Age and Sex Distribution)

• Amyloidosis of Urinary Bladder is a rare condition; so far, there are only about 200 cases of the primary localized type reported worldwide
• Although Urinary Bladder Amyloidosis can affect individuals of any age group, the elderly adults are affected the most
• Both males and females are at risk for the condition

What are the Risk Factors for Amyloidosis of Urinary Bladder? (Predisposing Factors)

The risk factors for Amyloidosis of Urinary Bladder may include:

• Advancing age
• A family history of amyloidosis
• Any condition that affects the antibody-producing cells in the body, including benign monoclonal gammopathy, malignant lymphoma, and multiple myeloma
• Chronic inflammatory conditions such as
  • Arthritis, including rheumatoid arthritis, juvenile inflammatory arthritis, psoriatic arthritis and ankylosing spondylitis
  • Inflammatory bowel disease (IBD) such as ulcerative colitis
• Chronic infections, including
  • Tuberculosis
  • Leprosy
  • Bronchiectasis
  • Osteomyelitis
  • Skin infections (especially in drug abusers, who use needles to inject themselves)
  • Chronic infection in skin with burns
  • Chronic kidney infections (pyelonephritis)
  • Whipple’s disease
• Poorly-controlled diabetes
• Infectious diseases such as HIV/AIDS
• Cystic fibrosis; individuals with this condition are prone to repeat infections
• Certain cancers such as Hodgkin’s lymphoma and renal cell carcinoma
• Family history of certain hereditary disorders that may include:
  • Familial Mediterranean fever (FMF)
  • Tumor necrosis factor (TNF) receptor associated periodic syndrome (TRAPS)
  • Hyperimmunoglobulin D syndrome and periodic fever syndrome (HIDS)
  • Cryopyrin-associated periodic syndrome (CAPS)
  • Majeed syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Amyloidosis of Urinary Bladder? (Etiology)

• Amyloidosis of Urinary Bladder is caused by abnormalities in plasma cells of bone marrow
• This results in generation of abnormal light chain immunoglobulin molecules, which adhere to form aggregates and fibrils to form amyloid protein
• The amyloid protein circulates in blood and gets deposited in the bladder tissue, resulting in the condition

In addition, systemic AA, AL, or inherited forms of amyloidosis can also cause Urinary Bladder Amyloidosis.

What are the Signs and Symptoms of Amyloidosis of Urinary Bladder?

The signs and symptoms of Amyloidosis of Urinary Bladder may vary among affected individuals in severity. Some individuals may have amyloid deposits in their bladder without any adverse effect on the organ; in others, it may exhibit clinically significant symptoms.

Some known signs and symptoms of primary localized Amyloidosis of Urinary Bladder include:

• Reduced urine output
• Blood in urine
• Difficulty in urination or controlling urination
• Having sudden urges to pass urine

If Urinary Bladder Amyloidosis occurs as a manifestation of systemic Amyloidosis, then the following general signs and symptoms may be present:

• Fatigue
• Swelling in the ankles and legs
• Unintended weight loss
• Pain in hands and feet
• Joint pain
• Skin rashes, which may be purple or red spots
• Rash around eyes
• Eyes that appear puffy
• Tingling sensation; numbness
• Anemia
• Clay-colored stools
• Carpal tunnel syndrome (resulting in weak grip)
• Bleeding disorders; problems with proper clotting of blood

In addition to the above, the affected individuals may experience other signs and symptoms as determined by the manifestation of systemic amyloidosis and/or (any) pre-existing conditions that caused amyloidosis.

How is Amyloidosis of Urinary Bladder Diagnosed?

The diagnosis of Amyloidosis of Urinary Bladder may include specific tests to assess damage to the structure and function of urinary bladder, as well as general tests to ascertain the subtype of amyloidosis (and its underlying cause), if associated with systemic disease.

The following methods may be employed for an accurate diagnosis of Amyloidosis of Urinary Bladder:

• A thorough physical examination
• Evaluation of personal and family medical history
• Assessment of the presenting signs and symptoms
• Blood tests:
  • For complete blood count (CBC)
  • To assess abnormal antibodies
  • To check heart function (cardiac biomarkers for stress on the heart)
  • To perform “Freelite assay”, a measurement of light chain immunoglobulins
  • For measuring immunoglobulin by immunofixation electrophoresis
  • Assess functioning of organs such as the liver
• Urine tests:
  • To check for excess protein (a 24 hour urine test is usually done)
  • Measure immunoglobulin by immunofixation electrophoresis
• Electrocardiography and echocardiography for checking heart functions
• Imaging tests, to assess amyloid deposits in the body/organs, and to assess damage to the organs, tissues, and bones, which include:
  • X-rays
  • Ultrasound imaging
  • Computed tomography scanning
  • Magnetic resonance imaging
  • Serum amyloid protein (SAP) scintigraphy scan: In this procedure, a small amount of radiolabeled (radioactive iodine) SAP is introduced through injection into the body. After several hours, individuals are scanned with a whole body gamma scanner to check for amyloid deposits in the tissues and organs. Individuals undergoing this procedure ingest potassium iodide before and after the procedure, to prevent the thyroid glands from absorbing the radioactive iodine
• Tissue biopsy: A biopsy of an affected organ or tissue is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy sample under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. Examination of the biopsy sample under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis. In case of amyloidosis,
  • Immunohistochemical analysis of tissue samples using anti-AA serum may be performed, to identify the type of amyloidosis an individual has
  • Amyloid deposit from affected tissue is detected using a staining procedure. When stained with Congo red stain, the amyloid protein deposits appear green under a special type of microscope (polarizing microscope)
• Bone marrow aspiration for checking the type of abnormal immunoglobulin light chains
• Molecular genetic testing to check for mutation(s) in the TTR gene, which is associated with most cases of hereditary amyloidosis
• Molecular testing to check the type of proteins in amyloid deposits (AL or AA chains) through mass spectrophotometry, when the disease is part of systemic amyloidosis

What are the possible Complications of Amyloidosis of Urinary Bladder?

The potential complications of Amyloidosis of Urinary Bladder may include:

• Increased susceptibility to infections
• Bladder obstruction
• Abdominal distention
• Involvement of other organs due to systemic amyloidosis

How is Amyloidosis of Urinary Bladder Treated?

The treatment options for Amyloidosis of Urinary Bladder may include the following:

• Surgical resection of an area of bladder with amyloid deposits, which may be followed by use of high-frequency electric currents to destroy damaged tissue
• Partial cystectomy: If the amyloid deposits have formed larger lesions, surgery to remove the lesions with part of the bladder. This surgery allows the bladder to still function

It must be noted that amyloidosis is usually systemic, affecting multiple organs at the same time. Therefore, additional treatments pertaining to the subtype of amyloidosis and its underlying cause are often necessary.

How can Amyloidosis of Urinary Bladder be Prevented?

• Currently, there are no specific methods or guidelines available to prevent Amyloidosis of Urinary Bladder
• If there is a family history of amyloidosis, then genetic counseling will help assess risks, before planning for a child
• Seeking medical attention for pre-existing conditions that can lead to amyloidosis, which consequently causes Urinary Bladder Amyloidosis is advisable
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are highly recommended.

What is the Prognosis of Amyloidosis of Urinary Bladder? (Outcomes/Resolutions)

• The prognosis for Amyloidosis of Urinary Bladder may be determined by a number of factors, such as the extent of disease, whether it is localized or part of systemic amyloidosis, overall health of the affected individual, and his/her response to treatment
• Urinary Bladder Amyloidosis may be treated by surgery. However, the likelihood of recurrence of amyloid deposition in the bladder is high, particularly if it is of the primary localized type
• If Urinary Bladder Amyloidosis occurs in association with systemic amyloidosis, then the outcome may be determined by severity of the systemic condition. The involvement of major organs in systemic amyloidosis may worsen the prognosis

Additional and Relevant Useful information for Amyloidosis of Urinary Bladder:

• Approximately, 30 different proteins with a tendency to form amyloids have been identified. These are known as precursor proteins or amyloidogenic proteins
• The misfolding of proteins can occur due to a number of reasons, including aberrant formation, improper breakdown, or accumulation beyond a critical concentration in serum