Young man with periorbital hematoma, a key sign of AL amyloidosis.

Beating AL Amyloidosis: One Young Man's Journey to Remission Through Stem Cell Transplant

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Lena Voss in Health & Wellness December 2025 • 4 min read.

"Discover how a 46-year-old patient achieved complete remission from AL amyloidosis with autologous stem cell transplantation, offering hope and insights into this rare disease."


AL amyloidosis, or light chain amyloidosis, is a rare and complex condition where abnormal protein deposits accumulate in the body's tissues and organs. These deposits, made of fragments of light chains, can disrupt normal function, leading to a variety of health issues.

The impact of AL amyloidosis can vary widely depending on which organs are affected and the extent of the protein deposits. Cardiovascular involvement, for example, is associated with a less favorable prognosis, making effective treatment strategies crucial. This complexity is what drives medical professionals to explore and share successful treatment approaches.

This article delves into a recent case of a young patient diagnosed with AL amyloidosis. We will explore the diagnostic journey, the chosen treatment path involving chemotherapy and autologous stem cell transplant, and the encouraging outcome that offers valuable insights for others facing this challenging condition.

The Diagnostic Puzzle: Identifying AL Amyloidosis

Young man with periorbital hematoma, a key sign of AL amyloidosis.

The case involves a 46-year-old male, M.M.V.F., who sought medical help after experiencing a range of symptoms over two years. These included paresthesia in his hands, muscle pain (myalgia), noticeable periorbital hematomas (bruising around the eyes), and an enlarged tongue (macroglossia). Despite these clear indicators, a definitive diagnosis remained elusive for quite some time.

A thorough physical examination revealed key signs such as the aforementioned periorbital hematomas, macroglossia, and indications of carpal tunnel syndrome in both hands, alongside generalized muscle pain. These observations prompted further investigation to uncover the underlying cause.

  • Protein Electrophoresis: This test identified a monoclonal peak in the gamma-globulin region, accounting for 31.3% of the total proteins, signaling an abnormal protein presence.
  • Erythrocyte Sedimentation Rate (ESR): The ESR was elevated at 39 mm after the first hour (normal ≤ 15 mm), indicating inflammation in the body.
  • Complete Blood Count: The blood count showed no significant abnormalities: Hemoglobin (HB) was 13.9 g/dL, hematocrit (HT) 41.9%, red blood cells 4.91 x 10^6 μ/L, leukocytes 9,100 μ/L, and platelets 198,000 μ/L.
  • Renal Profile: The urea level was slightly elevated at 44 mg/dL, with creatinine at 1.53 mg/dL, suggesting possible kidney involvement.
Further tests revealed an IgM level of 30 mg/dL (within normal limits) but a significant presence of monoclonal IgG-Kappa light chains, measured at 3.6 g/100 mL via serum protein immunofixation. An echocardiogram with Doppler was normal, ruling out significant heart involvement at that stage. A bone marrow aspiration showed normal cellularity across the erythrocytic, monocytic, and granulocytic series, with 14% mature plasma cells in the lymphoplasmacytic series. Finally, a rectal biopsy confirmed the presence of amyloid material with specific staining, leading to the diagnosis of AL amyloidosis.

A Path to Recovery: Treatment and Promising Outcomes

Following the diagnosis, the patient underwent a week of treatment with 0.4 mg of granulokine via subcutaneous injection. This was followed by high-dose melphalan, administered intravenously at 200 mg/m². After three days, the patient underwent apheresis to collect CD34-positive stem cells (stem cells). Eighteen months following the stem cell transplant, the patient achieved complete remission, with no clinical signs and the disappearance of the monoclonal component. This positive outcome highlights the potential of aggressive treatment strategies, particularly in younger patients without significant cardiac involvement. While scintigraphic techniques to monitor amyloid material regression are unavailable in their country, the clinical and laboratory results speak volumes about the success of the chosen treatment path. This case reinforces the importance of early and accurate diagnosis, followed by tailored and aggressive therapies to combat AL amyloidosis and improve patient outcomes.

About this Article -

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Everything You Need To Know

1

What exactly is AL amyloidosis?

AL amyloidosis, or light chain amyloidosis, is a rare disease characterized by the accumulation of abnormal protein deposits, known as amyloid, in the body's tissues and organs. These deposits are made of fragments of light chains, which are components of antibodies. This accumulation disrupts normal organ function, leading to various health issues. The disease's impact varies widely depending on the organs affected and the extent of the amyloid deposits. For example, cardiac involvement often leads to a less favorable prognosis, emphasizing the need for effective and timely treatment.

2

What kind of tests are needed to diagnose AL amyloidosis?

The diagnostic process for AL amyloidosis can be complex and may involve several tests. Some key tests include protein electrophoresis to detect abnormal protein presence, measurement of erythrocyte sedimentation rate (ESR) to check for inflammation, complete blood count to assess overall blood health, and a renal profile to evaluate kidney function. Immunofixation is used to identify specific types of light chains. A bone marrow aspiration helps assess plasma cells, and a tissue biopsy, such as a rectal biopsy, can confirm the presence of amyloid deposits. These tests collectively aid in confirming the diagnosis.

3

What does an autologous stem cell transplant do in the treatment of AL amyloidosis?

An autologous stem cell transplant involves collecting a patient's own stem cells, typically CD34-positive stem cells, followed by high-dose chemotherapy, such as melphalan, to eliminate the plasma cells producing the abnormal light chains. After chemotherapy, the collected stem cells are then transplanted back into the patient to restore bone marrow function and rebuild the immune system. This approach aims to achieve remission by eradicating the source of the amyloid-forming light chains and allowing the body to recover.

4

What is Melphalan and what role does it play in treating AL amyloidosis?

Melphalan is a chemotherapy drug often used in the treatment of AL amyloidosis. It works by targeting and destroying the abnormal plasma cells that produce the light chains responsible for amyloid formation. In the described case, high-dose melphalan was administered intravenously as part of the treatment regimen, aiming to eliminate these problematic cells and reduce the amyloid burden in the patient's body. This is often a crucial step before stem cell transplantation.

5

What does it mean to achieve complete remission from AL amyloidosis?

Complete remission in AL amyloidosis means there are no longer detectable clinical signs or laboratory evidence of the disease. This typically involves the disappearance of the monoclonal component, which indicates a reduction in the abnormal light chains causing the amyloid deposits. Although scintigraphic techniques to directly monitor amyloid material regression might not always be available, clinical assessments and laboratory results, such as blood and urine tests, are used to confirm the success of the treatment and the achievement of complete remission.

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