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Amyloidosis

Amyloidosis, or Amyloid, happens when the body incorrectly deposits defective proteins in an organ, which can result in organ failure, or death. Often, patients with Amyloidosis will see several doctors before the right diagnosis is reached.

At the Allegheny Health Network (AHN) Amyloidosis Program, a team of doctors from various specialties collaborate to offer individualized treatment plans. These patient-centered therapies slow down the disease to help you feel better, for longer.

Diagnosing amyloidosis

Types of Amyloidosis include:

  • Light Chain (AL Amyloidosis)
  • Transthyretin (ATTR Amyloid)
  • Amyloid specific to patients on dialysis
  • Amyloid specific to patients with inflammatory diseases

Common Amyloidosis symptoms:

  • Congestive heart failure
  • Unexplained thickening of the heart muscle
  • Irregular heartbeats that may be too fast or too slow
  • Dizziness or fainting with changes in position
  • Unexplained weakness, numbness, or pain in the hands or feet
  • Abnormal kidney function
  • An unusually large tongue

These non-specific symptoms may not always be a sign of Amyloidosis, because they are also signs for other diseases. Having these symptoms determines the need for further testing.

Confirming a amyloidosis diagnosis

In order to confirm an Amyloidosis diagnosis, AHN offers the following tests:

  • Laboratory tests of blood and urine
  • Imaging tests, such as ultrasound (echocardiogram), MRI, and/or nuclear study (technetium pyrophosphate scan)
  • Neurologic tests including state -of-the-art Quantitative Sudomotor Axon Reflex Testing (QSART)
  • Biopsy of tissue from an affected organ

Treating amyloidosis

Treatment depends on the type of Amyloidosis, as well as the parts of the body that have been affected. At AHN, we focus on stopping production of defective proteins, removing deposits, and repairing the problems in the organs.

Treating light chain amyloidosis

Light Chain Amyloidosis happens when too many antibody fragments called “light chains” are overproduced by the bone marrow. This process is cancer-like, so we use chemotherapy to destroy those light-chain producing “factories.” Sometimes, a bone marrow transplant may need to be considered.

Treating transthyretin amyloidosis

Transthyretin Amyloidosis occurs when defective transporter proteins called Transthyretin (TTR) are produced.  These proteins can by defective due to mutation at birth, or as a result of aging.  New medicines, now under review, prevent the defective TTR proteins from being deposited. Other therapies in development will aim to prevent the liver from making the defective proteins all together.

Amyloidosis treatment

No matter the type of Amyloidosis, small studies suggest that a combination of medications, including: antibiotics, green tea extract, and ursodeoxycholic acid have been known to help the body remove clumps of defective proteins, from various organs, with few side effects. They are often used along with other treatments.

For individuals with Transthyretin Amyloidosis, genetic testing and counseling can help families obtain a diagnosis, and plan for the future. Importantly, just having the mutation does not mean that you will develop the disease, but it does mean that you could pass along that mutation to the next generation

Contact us

Call (412) DOCTORS (412.362.8677) or request an appointment to learn more about AHN cardiovascular services.