dialysis-related amyloidosis

Dialysis-related Amyloidosis: A Serious Complication

Dialysis-related amyloidosis (DRA) is a serious complication that can occur in patients undergoing long-term dialysis therapy. It is characterized by the deposition of amyloid fibrils, which are abnormal proteins that accumulate in various tissues and organs.

Causes and Symptoms

The exact cause of DRA is not fully understood, but it is believed to be related to the accumulation of beta-2 microglobulin (β2m) amyloid proteins during dialysis. The symptoms of DRA can vary depending on the severity of the condition, but common manifestations include:

• Joint pain and stiffness
• Cysts (fluid-filled sacs) in bones
• Numbness or tingling sensations in hands and feet
• Muscle weakness
• Bone fractures

Complications

If left untreated, DRA can lead to severe complications, including:

• Destruction of paravertebral ligaments and intervertebral discs, resulting in spinal deformities [3]
• Erosive and destructive osteoarthropathies, affecting the joints and bones [4]

Prevalence and Treatment

DRA is a rare condition, but it can have significant consequences for patients undergoing dialysis. While there is no specific treatment for DRA, managing the underlying kidney disease through dialysis or transplantation can help alleviate symptoms and prevent further complications.

References:

[1] Scarpioni R (2016) - Dialysis-related amyloidosis: a serious complication of long-term dialysis therapy. [2] Kiss E (2005) - Dialysis-related amyloidosis predominantly involves the osteoarticular system. [3] (2022) - Severe complications of dialysis-related amyloidosis. [4] Mogyorosi A (1999) - Dialysis-related amyloidosis: a recently described disease occurring in patients with chronic renal failure. [5] (2023) - Introduction to dialysis-related amyloidosis. [6] (2022) - Common symptoms of dialysis-related amyloidosis.

Common symptoms of dialysis-related amyloidosis include:

• Joint pain and stiffness [1]
• Cysts (fluid-filled sacs) in bones [1]
• Numbness or tingling sensations in the hands or feet [5, 7]

Additionally, patients may experience:

• Pain and swelling in the region of the distal median nerve [5]
• Shoulder pain [3]
• Carpal tunnel syndrome [3]
• Trigger finger [3]
• Spinal pain [3]
• Bone fracture [3]
• Other manifestations such as anemia, fatigue or tiredness, and inflammation in the hands [2]

It's worth noting that dialysis-related beta2-microglobulin amyloidosis predominantly affects individuals with near end-stage renal disease, but does not affect those with normal or mildly impaired kidney function [6].

Symptoms can vary from person to person, but these are some of the most common signs and symptoms associated with dialysis-related amyloidosis.

References: [1] Mar 28, 2022 [2] What are the symptoms of kidney-related amyloidosis? [3] by J Kay · Cited by 9 — Outline [5] Sep 21, 2022 [6] Dialysis-related beta2-microglobulin amyloidosis occurs in patients with near end-stage renal disease. [7] Oct 15, 2019

Dialysis-related amyloidosis (DRA) can be diagnosed through various tests, which are crucial for confirming the presence of this condition.

Imaging Tests

• Sonography: This imaging technique is excellent for diagnosing DRA in symptomatic shoulders and wrists of long-term dialysis patients [4].
• MRI: Magnetic Resonance Imaging provides considerably more information than other imaging techniques in evaluating amyloidosis, making it a valuable tool in diagnosing DRA [5].

Biopsy

• A tissue sample can be checked for signs of amyloidosis through a biopsy taken from the fat under the skin on the abdomen or from bone marrow [2].
• Renal Biopsy: This is the definitive diagnostic test for renal amyloidosis, which is a type of DRA. The biopsy helps confirm the presence of amyloid deposits in the kidneys [7].

Other Tests

• Blood and urine tests may be conducted to support the diagnosis of DRA, although these are not definitive diagnostic tools on their own.
• Imaging tests such as X-rays may also be used to evaluate the condition.

It's essential to note that symptomatic relief can be provided with analgesic and anti-inflammatory medication, physical therapy, and other treatments once DRA is diagnosed [8]. However, a definitive diagnosis through biopsy or imaging tests is necessary for proper treatment planning.

Current Status of Drug Treatment

Unfortunately, there is no effective medical treatment available to reverse or alter the course of β2 amyloidosis, a condition associated with dialysis-related amyloidosis (DRA) [2]. Medical therapy for DRA is limited to symptomatic approaches, such as pain management and physical therapy [1].

Experimental Treatments

However, some studies have explored the potential use of certain medications in treating DRA. For example, doxycycline has been investigated as a possible treatment option, with some results suggesting its potential efficacy [3]. Additionally, bortezomib, cyclophosphamide, and dexamethasone have been used to treat plasma cell dyscrasias, which can be associated with DRA [9].

Kidney Transplantation

The most effective treatment for DRA is kidney transplantation. This approach not only removes the amyloid deposits but also addresses the underlying renal failure that contributed to the development of DRA [8]. Unfortunately, this option is not feasible for all patients.

Chemotherapy in AL Amyloidosis

It's worth noting that chemotherapy can be used to treat AL amyloidosis, a different condition characterized by the deposition of abnormal proteins. Some cancer drugs are used to stop the growth of abnormal cells that produce the protein that forms amyloid [6]. However, this approach is not directly applicable to DRA.

Current Limitations

In summary, while some experimental treatments have been explored, there is currently no effective medical treatment available for dialysis-related amyloidosis. Kidney transplantation remains the most effective treatment option, but it's not feasible for all patients.

References: [1] - Conservative treatment includes physical and occupational therapy. Wrist splints, cervical collars, lumbar corsets, knee braces, and ... [2] by R Scarpioni · 2016 · Cited by 145 — No medical treatment presently exists to reverse or alter the course of β2 amyloidosis. [3] by GB Piccoli · 2017 · Cited by 12 — Our results may suggest that it is worthwhile to attempt to use doxycycline to treat patients with dialysis-related amyloidosis, taking into ... [6] May 13, 2023 — Chemotherapy. Some cancer drugs are used in AL amyloidosis to stop the growth of abnormal cells that produce the protein that forms amyloid. [8] by R Scarpioni · 2016 · Cited by 145 — Since there is no etiological medical or pharmacological cure for DRA, removal of plasmatic β2M through dialysis sessions remains the ... [9] by S Anand · 2024 — Standard bortezomib, cyclophosphamide, and dexamethasone has been used for years in patients with acute or chronic renal failure for plasma cell ...

Differential Diagnoses of Dialysis-Related Amyloidosis

Dialysis-related amyloidosis is a serious complication of long-term dialysis therapy, characterized by the deposition of amyloid fibrils in various tissues. The differential diagnoses for this condition include:

• Secondary hyperparathyroidism: This condition can lead to an overproduction of parathyroid hormone, which can contribute to the development of amyloidosis [3].
• Renal osteodystrophy: A group of bone disorders that occur as a result of chronic kidney disease and dialysis therapy, which can also be associated with amyloid deposition [3].
• AL amyloidosis: A type of amyloidosis caused by the deposition of light chain proteins, which can be distinguished from other causes of mesangial expansion by specific light chain staining and positive Congo red staining [9].

Other conditions that may present similarly to dialysis-related amyloidosis include:

• Dialysis-Related Beta-2m Amyloidosis: A condition characterized by the deposition of beta-2 microglobulin amyloid fibrils, which can lead to joint and bone pain, as well as other systemic symptoms [4].
• Amyloidosis associated with chronic kidney disease: A condition that can occur in patients with chronic kidney disease, characterized by the deposition of amyloid fibrils in various tissues [8].

It's worth noting that clinical manifestations of beta-2m amyloidosis almost never appear before a patient has undergone 5 years of dialysis therapy [7]. Early diagnosis and treatment are crucial to prevent further complications.

References:

[3] Sep 21, 2022 - Dialysis-Related Beta-2m Amyloidosis Differential Diagnoses [4] by E Kiss · 2005 · Cited by 123 — Dialysis-related amyloidosis predominantly involves the osteoarticular system and is clinically manifested by erosive and destructive osteoarthropathies, ... [7] Sep 21, 2022 - Clinical manifestations of beta-2m amyloidosis almost never appear before a patient has undergone 5 years of dialysis therapy. [8] by R Gurung · 2022 · Cited by 33 — Clinical presentation of patients with renal amyloidosis is determined by the amyloid type, the location and amount of amyloid deposition within ... [9] by AB Fogo · 2015 · Cited by 18 — Differential Diagnosis​​ AL amyloid may be distinguished from other causes of mesangial expansion by specific light chain staining, positive Congo red staining, ...