| AL amyloidosis |
| Classification and external resources |
| Specialty |
endocrinology |
| ICD-10 |
E85 |
| ICD-9-CM |
277.3 |
| OMIM |
254500 |
| DiseasesDB |
315 |
| MedlinePlus |
000533 |
| eMedicine |
med/3363 |
|
[edit on Wikidata]
|
Amyloid Light-chain (AL) amyloidosis, primary systemic amyloidosis (PSA) or just primary amyloidosis is the most common form of systemic amyloidosis in the US.[1] The disease is caused when a person's antibody-producing cells do not function properly and produce abnormal protein fibers made of components of antibodies called light chains. These light chains come together to form amyloid deposits in different organs which can cause serious damage to these organs.[2][3] Abnormal light chains in blood and urine are sometimes referred to as "Bence Jones protein".
Contents
- 1 Signs and symptoms
- 2 Causes
- 3 Diagnosis
- 4 Treatment
- 5 Prognosis
- 6 Epidemiology
- 7 See also
- 8 References
- 9 External links
Signs and symptoms
AL amyloidosis can affect a wide range of organs, and consequently present with a range of symptoms. The kidneys are the most commonly affected organ in AL amyloidosis. Symptoms of kidney disease and renal failure can include fluid retention, swelling, and shortness of breath.[4] In addition to kidneys, AL amyloidosis may affect the heart, peripheral nervous system, gastrointestinal tract, blood, lungs and skin. Heart complications, which affect more than a third of AL patients, include heart failure and irregular heart beat. Other symptoms can include stroke, gastrointestinal disorders, enlarged liver, diminished spleen function, diminished function of the adrenal and other endocrine glands, skin color change or growths, lung problems, bleeding and bruising problems, fatigue and weight loss.[4][5]
Causes
AL amyloidosis can occur spontaneously. It is, however, often associated with other blood disorders, such as multiple myeloma and Waldenström's macroglobulinemia.[4] About 10% to 15% of patients with multiple myeloma may develop overt AL amyloidosis.[6]
Diagnosis
Both blood and the urine can be tested for the light chains, which may form amyloid deposits, causing disease. However, the diagnosis requires a sample of an affected organ.[4][7]
Treatment
The most effective treatment is autologous bone marrow transplants with stem cell rescues. However many patients are too weak to tolerate this approach.[8][9]
Other treatments can involve application of chemotherapy similar to that used in multiple myeloma.[9] A combination of bortezomib and dexamethasone has been proposed,[10] as has melphalan and dexamethasone.[8]
Prognosis
Median survival for patients diagnosed with AL amyloidosis was 13 months in the early 1990s, but had improved to c. 40 months a decade later.[11]
Epidemiology
AL amyloidosis is a rare disease; only 1200 to 3200 new cases are reported each year in the United States. Two thirds of patients with AL amyloidosis are male and less than 5% of patients are under 40 years of age.[4][12]
See also
- Light chain deposition disease
- Primary systemic amyloidosis
References
- ^ Gertz MA (June 2004). "The classification and typing of amyloid deposits". Am. J. Clin. Pathol. 121 (6): 787–9. doi:10.1309/TR4L-GLVR-JKAM-V5QT. PMID 15198347.
- ^ "Amyloidosis Causes, Diagnosis, Symptoms, and Treatment on MedicineNet.com".
- ^ "Amyloidosis and Kidney Disease". National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved 23 November 2011.
- ^ a b c d e UNC Kindey Center. "AL Amyloidosis". UNC. Retrieved 22 November 2011.
- ^ "Amyloidosis". University of Maryland Medical Center. Retrieved 23 November 2011.
- ^ Madin, Sumit; Dispenzieri, Angela (2010). "Clinical Features and Treatment Response of Light Chain (AL) Amyloidosis Diagnosed in Patients With Previous Diagnosis of Multiple Myeloma" (PDF). Mayo Clinic Proceedings 83 (3): 232–238. doi:10.4065/mcp.2009.0547. Retrieved 22 November 2011.
- ^ Sanchorawala, Vaishali (2006). "Light-Chain (AL) Amyloidosis: Diagnosis and Treatment". Clinical Journal of the American Society of Nephrology 1 (6): 1334–1341. doi:10.2215/cjn.02740806. Retrieved 1 December 2011.
- ^ a b Palladini G, Perfetti V, Obici L; et al. (April 2004). "Association of melphalan and high-dose dexamethasone is effective and well tolerated in patients with AL (primary) amyloidosis who are ineligible for stem cell transplantation". Blood 103 (8): 2936–8. doi:10.1182/blood-2003-08-2788. PMID 15070667.
- ^ a b "BU: Amyloid Treatment & Research Program".
- ^ Kastritis E, Anagnostopoulos A, Roussou M; et al. (October 2007). "Treatment of light chain (AL) amyloidosis with the combination of bortezomib and dexamethasone". Haematologica 92 (10): 1351–8. doi:10.3324/haematol.11325. PMID 18024372.
- ^ Ashutosh D. Wechalekar (2007). "Perspectives in treatment of AL amyloidosis". British Journal of Haematology 140 (4): 365–377. doi:10.1111/j.1365-2141.2007.06936.x. Retrieved 23 November 2011.
- ^ "Primary AL". Amyloidosis Foundation. Retrieved 23 November 2011.
|
Amyloidosis (E85, 277.3)
|
|
| Common amyloid forming proteins |
- AA
- ATTR
- Aβ2M
- AL
- Aβ/APP
- AIAPP
- ACal
- APro
- AANF
- ACys
- ABri
|
|
| Systemic amyloidosis |
- AL amyloidosis
- AA amyloidosis
- Aβ2M/Haemodialysis-associated
- AGel/Finnish type
- AA/Familial Mediterranean fever
- ATTR/Transthyretin-related hereditary
|
|
| Organ-limited amyloidosis |
|
Heart
|
AANF/Isolated atrial
|
|
|
Brain
|
- Familial amyloid neuropathy
- ACys+ABri/Cerebral amyloid angiopathy
- Aβ/Alzheimer's disease
|
|
|
Kidney
|
- AApoA1+AFib+ALys/Familial renal
|
|
|
Cutaneous
|
- Primary cutaneous amyloidosis
- Amyloid purpura
|
|
|
Endocrine
|
- Thyroid
- ACal/Medullary thyroid cancer
- Pituitary
- APro/Prolactinoma
- Pancreas
- AIAPP/Insulinoma
- AIAPP/Diabetes mellitus type 2
|
|
|
|
Immunoproliferative immunoglobulin disorders (D89, 273)
|
|
| PCDs/PP |
- Plasmacytoma
- Multiple myeloma (Plasma cell leukemia)
- MGUS
- IgM (Macroglobulinemia/Waldenström's macroglobulinemia)
- heavy chain (Heavy chain disease)
- light chain (Primary amyloidosis)
|
|
| Other hypergammaglobulinemia |
|
|
|
Hematological malignancy/leukemia histology (ICD-O 9590–9989, C81–C96, 200–208)
Lymphoid/Lymphoproliferative, Lymphomas/Lymphoid leukemias (9590–9739, 9800–9839)
|
|
B cell
(lymphoma,
leukemia)
(most CD19
|
By
development/
marker |
| TdT+ |
- ALL (Precursor B acute lymphoblastic leukemia/lymphoma)
|
|
| CD5+ |
- naive B cell (CLL/SLL)
- mantle zone (Mantle cell)
|
|
| CD22+ |
- Prolymphocytic
- CD11c+ (Hairy cell leukemia)
|
|
| CD79a+ |
- germinal center/follicular B cell (Follicular
- Burkitt's
- GCB DLBCL
- Primary cutaneous follicle center lymphoma)
- marginal zone/marginal zone B-cell (Splenic marginal zone
- MALT
- Nodal marginal zone
- Primary cutaneous marginal zone lymphoma)
|
|
| RS (CD15+, CD30+) |
- Classic Hodgkin's lymphoma (Nodular sclerosis)
- CD20+ (Nodular lymphocyte predominant Hodgkin's lymphoma)
|
|
PCDs/PP
(CD38+/CD138+) |
- see immunoproliferative immunoglobulin disorders
|
|
|
| By infection |
- KSHV (Primary effusion)
- EBV (Lymphomatoid granulomatosis
- Post-transplant lymphoproliferative disorder)
- HIV (AIDS-related lymphoma)
- Helicobacter pylori (MALT lymphoma)
|
|
| Cutaneous |
- Diffuse large B-cell lymphoma
- Intravascular large B-cell lymphoma
- Primary cutaneous marginal zone lymphoma
- Primary cutaneous immunocytoma
- Plasmacytoma
- Plasmacytosis
- Primary cutaneous follicle center lymphoma
|
|
|
| T/NK |
T cell
(lymphoma,
leukemia)
(most CD3
|
By
development/
marker |
- TdT+: ALL (Precursor T acute lymphoblastic leukemia/lymphoma)
- prolymphocyte (Prolymphocytic)
- CD30+ (Anaplastic large-cell lymphoma
- Lymphomatoid papulosis type A)
|
|
| Cutaneous |
| MF+variants |
- indolent: Mycosis fungoides
- Pagetoid reticulosis
- Granulomatous slack skin
aggressive: Sézary disease
- Adult T-cell leukemia/lymphoma
|
|
| Non-MF |
- CD30-: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma
- Pleomorphic T-cell lymphoma
- Lymphomatoid papulosis type B
- CD30+: CD30+ cutaneous T-cell lymphoma
- Secondary cutaneous CD30+ large-cell lymphoma
- Lymphomatoid papulosis type A
|
|
|
Other
peripheral |
- Hepatosplenic
- Angioimmunoblastic
- Enteropathy-associated T-cell lymphoma
- Peripheral T-cell lymphoma not otherwise specified (Lennert lymphoma)
- Subcutaneous T-cell lymphoma
|
|
| By infection |
- HTLV-1 (Adult T-cell leukemia/lymphoma)
|
|
|
NK cell/
(most CD56) |
- Aggressive NK-cell leukemia
- Blastic NK cell lymphoma
|
|
| T or NK |
- EBV (Extranodal NK-T-cell lymphoma/Angiocentric lymphoma)
- Large granular lymphocytic leukemia
|
|
|
Lymphoid+
myeloid |
- Acute biphenotypic leukaemia
|
|
| Lymphocytosis |
- Lymphoproliferative disorders (X-linked lymphoproliferative disease
- Autoimmune lymphoproliferative syndrome)
- Leukemoid reaction
- Diffuse infiltrative lymphocytosis syndrome
|
|
|
| Cutaneous lymphoid hyperplasia |
- Cutaneous lymphoid hyperplasia
- with bandlike and perivascular patterns
- with nodular pattern
- Jessner lymphocytic infiltrate of the skin
|
|
External links
- UK NHS National Amyloidosis Centre Patient Information Site: information on AL amyloidosis
- Stanford University Amyloid Center
- Boston University Amyloid Treatment and Research Program
- Diseases with monoclonal light chain deposition - AL Amyloidosis
- List of amyloidosis patient support groups
- List of major amyloidosis medical treatment research centers
- Great Britain National Amyloidosis Center
- France National Reference Center for AL Amyloidosis
- Italy Centro per lo studio e la Cura delle Amiloidosi Sistemiche
