Health Care

Correct Diagnosis of Amyloidosis is Vital for Heart Patients

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Congestive heart failure is a common but serious health issue caused by a variety of heart diseases. We’re here with Marcos Hazday, MD, FACC to heighten the awareness thought to be rare but now failed to be frequently diagnosed that can have a lethal course if left undiagnosed. We are referring to cardiac amyloidosis.

Dr. Hazday emphasizes the need for prompt and accurate diagnosis since the sooner the treatment is instituted the better the clinical outcomes. Read on to learn more from Dr. Hazday including what amyloidosis is, its symptoms and how possible misdiagnosis of the illness can leave it undetected.

What is Amyloidosis?

There are two sources of amyloidosis. Bone marrow and the liver. Plasma cell disorder causes AL amyloidosis, which is considered a hematological emergency. If left untreated, it will have a lethal course. TTR amyloidosis can be of two types, “wild type” or hereditary.

Amyloidosis is the result of an abnormal unfolding of a protein that builds up in the tissue. Dr. Hazday explains, “This amyloid buildup can cause the organs to not work properly. Organs that can be affected include the heart, kidneys, liver, spleen, nervous system and digestive tract.”

Some types of amyloidosis occur with other diseases and may improve with treatment of those diseases. However, other types of amyloidosis can lead to life-threatening organ failure, such as with familial transthyretin amyloidosis, or wild type amyloidosis, all of which now have effective treatment options.

“In the past, the only treatment available was heart and liver transplant, whereas today we have very effective therapies available,” explains Dr. Hazday. It has been shown that the earliest you receive a diagnosis and start treatment, the better the outcome.

Amyloidosis Symptoms

“You may not experience symptoms of amyloidosis until later in the course of the disease,” says Dr. Hazday. He continues, “Symptoms may vary, depending on which organs are affected.”

Signs and symptoms of amyloidosis may include:

  • Diarrhea, possibly with blood, or constipation
  • Enlarged tongue, which might look rippled around the edge
  • Numbness, tingling or pain in the hands or feet; Carpal tunnel syndrome
  • Spinal stenosis
  • Severe fatigue and weakness
  • Shortness of breath
  • Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
  • Swelling of the ankles and legs

See your doctor if you regularly experience any of the above symptoms.

Amyloidosis and Misdiagnosis

Because amyloidosis is considered a rare disease, some cardiologists won’t immediately consider it as a potential diagnosis. But according to Dr. Hazday, it might be more common than meets the eye. The disease can be misdiagnosed for another illness like hypertrophic cardiomyopathy, a disease in which the heart muscle becomes thickened (hypertrophied), or hypertensive heart disease. The thickened heart muscle can make it harder for the heart to pump blood.

Dr. Hazday illuminates, “I have had patients with what turned out to be amyloidosis mimicking hypertrophic cardiomyopathy, which illustrates the importance of multimodality imaging and of a willingness by physicians to consider an alternative diagnosis, even when the initial diagnosis seems clear and the alternative is rare.”

Treating Amyloidosis

There are now FDA-approved medications that are effective in treating amyloidosis, so it’s important to receive the correct diagnosis to improve your chances of recovery. Dr. Hazday, an expert in both diagnosing and treating the illness, is your resource for world-class, leading-edge heart care at AdventHealth Medical Group Cardiology at Celebration.

Schedule your appointment today with Dr. Hazday.

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