Kidney disease is the ninth leading cause of death in the united states, accounting for more than 50 000 deaths annually. Even patients with advanced chronic kidney disease ckd. Request pdf pulmonary lightchain deposition disease. We report an unusual histologic manifestation of lcdd in a 55yearold female patient, who presented with nephrotic syndrome and. Light chain deposition disease lcdd is a rare blood cell disease which is characterized by deposition of fragments of infectionfighting immunoglobulins, called light chains lcs, in the body. Comprehensive and up to date, the third edition of diagnostic pathology. Unravelling the immunopathological mechanisms of heavy chain. A case of fatal intrahepatic cholestasis with primary al. Alright, now in this part of the article, you will be able to access the free pdf download of diagnostic atlas of renal pathology 2nd edition pdf using our direct links mentioned at the end of this article. Alamyloidosis and lightchain deposition disease light.
Sep 26, 2019 light chain deposition disease lcdd is the deposition of monoclonal light chains in multiple organs. Natural history and outcome of light chain deposition disease. Lightchain deposition disease lcdd is a systemic disease characterized by monotypic lightchain. The treatment for most patients with light chain deposition disease is chemotherapy similar to that for myeloma chapter 193. Light chain deposition disease lcdd is a rare systemic disorder with deposition of mostly monoclonal amorphous nonamyloid light chains in multiple organs. The ig heavy chain in hcdd is typically truncated 41. Lightchain deposition disease accessed 17 january 2018 uncommon. Light chain deposition disease that appeared in the december 2015 issue of ajkd fogo et al, volume 66, issue 6, pages e47e48, a word was mistakenly omitted from the second bulleted item in the key diagnostic features section. Serum and urine electrophoresis showed a monoclonal spike, but no plasmacytosis was identified at bone marrow biopsy and autopsy. Light chain deposition disease radiology reference article.
Patients commonly have an underlying plasma cell dyscrasia, and produce excess levels of monoclonal light chains. Light chains are used to make antibodies that the body needs to fight infection. Light chain deposition disease lcdd is the deposition of monoclonal, amorphous, noncongophilic light chains in multiple organs that do not exhibit a fibrillar structure when examined ultrastructurally. Light chain deposition disease lcdd is characterized by the deposition of monotypic immunoglobulin light chains in the kidney. Light chain deposition disease lcdd a systemic disorder that involves the immune system, lcdd is caused by an excess buildup of immunoglobulin light chains in the tissues and organs. Kappa light chains were expressed with immunoperoxidase studies on paraffinembedded tissue, and ultrastructural studies showed the dense, granular deposits characteristic of systemic light chain deposition disease. Patients with hcdd have heavier proteinuria, but otherwise. Measurable disease with free light chain testing has been defined as a clonal free light chain concentration of at least 100 mgl with an abnormal ratio.
The diagnosis of midd must be suspected in any patient with the nephrotic syndrome or rapidly progressive tubuleinterstitial nephritis or with echocardiographic findings indicating diastolic dysfunction and the presence of a monoclonal ig component in the serum andor the urine. Light chain proximal tubulopathy lcpt is an uncommon form of renal disease associated with dysproteinemias. People with lcdd make too many light chains, which get deposited in many body tissues. Clinical findings nephrotic syndrome, heart failure, arrhythmias, liver disease, anorexia, nausea, weight loss. Light chain deposition disease lcdd, in which deposits are made up of. In such cases, bronchial biopsy is very helpful and analysis of a frozen sample is extremely valuable to establish the correct diagnosis of light chain deposition disease. It is a rare disease characterized by deposition of nonamyloid immunoglobulin light chains, and they do not stain with congo red and do not exhibit a fibrillar structure when examined ultrastructurally. Light chain deposition disease an overview sciencedirect. Midd includes light chain deposition disease lcdd, heavy chain deposition disease hcdd, and light and heavy chain deposition disease lhcdd. The kidneys are almost always affected and this often leads to kidney failure. Gamma heavy chain disease accessed 17 january 2018 less common than light chain deposition disease.
Gastrointestinal gi involvement has been described in both primary and secondary amyloidosis, but has rarely been reported in lcdd, and only as an incidental finding. In this issue of blood, sayed et al report on a series of 53 patients with light chain lc deposition disease lcdd prospectively followed for a median of 6. Primary cerebral lowgrade bcell lymphoma, monoclonal. Light chain deposition disease light chain deposition disease lcdd occurs in middleaged patients with a mean age of 67 years and commonly involves the kidneys. There are several types of hereditary amyloidoses, most common of which is mattr amyloidosis, an autosomal dominant disease that results from misfolding of. To date, there have been only a few reports of isolated aggregomas, with the majority detailing renal, lymph node and brain deposition. In addition, we identified 17 patients with pulmonary lcdd in the literature with sufficient cli. Rare lambda lcpt cases without crystals by em were described. Light chain deposition disease lcdd was diagnosed in 4 9% patients. Certain cells in your body called bcells often make extra light chains, that are broken down into small pieces by the kidney, which are then reabsorbed and used again in your body. The disease is caused when a persons antibodyproducing cells do not function properly and produce abnormal protein fibers made of components of antibodies called light chains. Lightchain deposition disease lcdd is the most common form of ig deposition disease and has been considered as a contraindication to transplant. Role for transforming growth factorbeta article pdf available in american journal of pathology 1472.
Light chain deposition disease an overview sciencedirect topics. Light chain deposition disease is a rather uncommon monoclonal gammopathy with predominantly renal manifestations with presence of monoclonal light chains in serum and urine. Renal pathologic spectrum in an autopsy series of patients. Diagnosis of monoclonal gammopathy of renal significance. Light chain deposition disease involving the airways. In the 2018 update of the oxford textbook of nephrology, 6 chapters, selected by the editors for their clinical relevence, have been updated to include the latest. Light chain deposition disease is a systemic disease characterized by deposition of immunoglobin light chains in various organs.
Pulmonary manifestations of light chain deposition disease. May 01, 2016 light chain deposition disease lcdd is a rare disease characterized by deposition of monoclonal nonamyloid light chains in multiple organs. Several paraproteinemias including cryoglobulinemia, monoclonal gammopathy, and light chain deposition disease as well as hematopoietic disorders including plasmacytoma, plasma cell dyscrasia, and b cell lymphoproliferative disorders involve glomerulopathy with an ultrastructural fibrillary structure. Lightchain and heavychain deposition diseases oxford medicine. Light chain deposition disease lcdd is a rare disease characterized by deposition of monoclonal nonamyloid light chains in multiple organs. Dec 23, 2008 i made a posting about a week ago regarding kappa light chain deposition disease with smoldering m. Lightchain and heavychain deposition diseases oxford. Diagnostic atlas of renal pathology 2nd edition pdf free download. I know that the klcdd is very rare but i was hoping to find someone with some experience with this disease. Extranodal marginal zone lymphoma with iga deposition ipsid dita gratzinger md phd department of pathology. Background light chain deposition disease lcdd is usually a systemic disorder characterised by nonamyloid monoclonal immunoglobulin light chain deposition in tissues. Aug 02, 2016 light chain deposition disease lcdd is a rare condition characterized by the deposition of specific proteins monoclonal light chains in the kidneys and other organs. Light chain deposition disease lcdd is a rare disease.
Light chain deposition disease definition of light chain. Recurrence of light chain deposit disease after renal. Colvin, md and anthony chang, md, expertly covers all aspects of common and rare renal diseases and their variants. Serum free light chain analysis for diagnosis, monitoring. Patients with light chain deposition disease make far too many light chains, which get deposited in lots of different tissues in the body, including the kidney. Pathogenesis of glomerulosclerosis in light chain deposition disease. In addition, patients with lcdd might present at diagno sis with hypertension table 1. Systemic light chain deposition disease presenting as. Kumar professor of pathology, oman medical college, sultanate of oman. Heavy chain deposition disease is when kidneys, liver andor heart dysfunction and failure occur due to deposits of pieces of heavy chains. Light chain deposition disease is often associated with multiple myeloma or lymphoproliferative disease, but as many as 50% of patients have no evidence of neoplastic plasma cell proliferation. Light chain deposition disease lcdd is a rare condition characterized by extracellular light chain deposition in tissues.
Crystals are located within lysosomes by electron microscopy em. Either kappa or lambda light chain paraprotein may cause light chain deposition disease, although kappa more commonly is the culprit antibody to kappa light chain, immunofluorescence. Renal pathology that is probably related to the wm isolated renal thrombotic microangiopathy tma was diagnosed in 3 7% patients. Unusual presentation of light chain deposition disease.
There was no other evidence of a b cell clonal disorder or amyloidosis. Nath sv, peiris m, bishton mj, maxwell e, prince hm. Kidney samples from both of these patients were subjected to immuno. Renal involvement with rapidly progressing renal failure presents the dominant manifestation of lcdd. Light chain deposition disease pulmonary manifestations. No evidence of other organ dysfunction or failure liver, heart, nervous system, intestine because of light chain deposit disease lcdd was present at the time of diagnosis. Pathology of glomerular deposition diseases joh 2007.
It is characterized by intracytoplasmic deposition of crystallized mostly kappa monoclonal light chains in proximal tubules pts. Light chain deposition disease presenting as massive hepatomegaly. Depending on the spatial arrangement of the secreted proteins, light chain derived amyloidosis al can be. Light chain deposition disease american journal of kidney. Plasma exchange may be helpful, but has not been proven as such. Light chain deposition disease genetic and rare diseases. Renal biopsies and autopsy specimens of 23 patients with light chain deposition disease lcdd and one with only heavy chain deposits, were studied by light lm and electron microscopy em as well as immunohistology ih. Fiftyone of 53 patients were diagnosed with lcdd on renal histology figure 1. Pdf a case of light chain deposition disease lcdd in a. Light chain deposition disease lcdd is a rare condition characterized by the deposition of specific proteins monoclonal light chains in the kidneys and other organs. Glomerular capillary loop, mesangial staining, and linear tubular staining are characteristic of light chain deposition disease. Monoclonal immunoglobulin deposition disease and related.
Dysproteinemias and glomerular disease loyola medicine. The only pathology found in coronal brain sections was illdefined periventricular foci with prominent, firm vessels. Osteosclerotic myeloma poems syndrome heavy chain diseases variants of lymphoma rather than plasma cell neoplasms gamma heavy chain disease see lymphoplasmacytic lymphoma mu heavy chain disease see chronic lymphocytic leukemia. Alamyloidosis and light chain deposition disease light chains induce divergent phenotypic transformations of human mesangial cells skip to. Renal involvement is the most common clinical manifestation. Monoclonal immunoglobulin deposition disease is a group of multisystem disorders characterized by deposition of monoclonal immunoglobulin light or heavy chains in various organs. On the other hand, entire mig molecules comprised of light and heavy chains are less likely to pass through the glomerular. Pdf pathogenesis of glomerulosclerosis in light chain. In the atlas of renal pathology ii installment entitled ajkd atlas of renal pathology. We present a rare case of paraspinal aggregoma in a 67yearold female who presented with a complaint of cough and chest pain. Aggregomas are rare localized masses of monoclonal nonamyloid immunoglobulin light chain deposits. Approximately 20%30% of patients show symptomatic cardiac or liver involvement. Light chain deposition disease of the liver without renal involvement in a patient with multiple myeloma related to liver failure and rapid fatal outcome. This is the first case report of light chain deposition disease restricted to the brain.
Lcs are normally cleared by the kidneys, but in lcdd, these light chain deposits damage organs and cause disease. Light chain deposition disease presenting as cholestatic jaundice. Light chain deposition disease presenting as cholestatic. Light chain deposition disease lcdd is one manifestation of monoclonal immunoglobulin deposition disease in the kidney, first reported in 1973 and confirmed by randall et al who published in 1976 the first description of lcdd the incidence of lcdd in patients with plasma cell dyscrasia is approximately 5%. The 2 patients with light chain deposition disease lcdd were also diagnosed at autopsy.
Acute renal failure must be treated with appropriate fluids and with electrolytes and hemodialysis if necessary. Systemic light chain and heavy chain deposition diseases. Bortezomib based chemotherapy for light chain deposition disease. The light chains are secreted by a plasma clone and deposit in the alveolar walls, small airways, and vessels. Fig 6 the granular, amorphous deposits typical of light chain deposition disease are seen as siltlike material on the endothelial aspects of the glomerular basement membrane in this case of light chain deposition disease transmission electron microscopy. The pathologist viewing the biopsy can tell it is light chain deposition disease because it has a different appearance from other deposition diseases. Immunoglobulin light chain associated al amyloidosis is a multisystemic disorder characterized by extracellular deposition of immunoglobulin light chain produced by a proliferative plasma cell clone. Myeloma is common in patients with lcdd and may be present in 60% of cases, and, as with cast nephropathy, poor outcomes have been reported after kidney transplantation. It usually occurs in elderly male patients but can have a wide age range. Midd is characterized by the deposition of light and heavy chain proteins. Light chain deposition disease lcdd in the lung is a rare occurrence. Light chain deposition disease american journal of.
Jan 06, 2012 i cohost a mm support group and may be able to answer some of your questions, or find others who can help. Diagnostic atlas of renal pathology 2nd edition pdf free. Light chain deposition disease lcdd is the most common form of ig deposition disease and has been considered as a contraindication to transplant. I have never heard of light chain deposition disease, but i know that some patients dont show other indicators and have to be checked via light chains. Randalltype heavy chain deposition disease hcdd is a rare disorder. Light chain deposition disease lcdd has been diagnosed at autopsy in 19% of patients with.
Treatment generally involves chemotherapy, corticosteroids and, in some cases, radiation therapy. Light chains deposition disease kappa light chain deposition disease lcdd is the deposition of monoclonal, amorphous, noncongophilic light chains in multiple organs that do not exhibit a fibrillar structure when examined ultrastructurally. However, it shares some characteristics with cancer, and can be associated with certain types of cancer. At the age of 51 a female patient was diagnosed with chronic renal insufficiency grade iii because of kappa light chain deposition in her kidneys. A condition in which plasma cells secrete immunoglobulin light chains of only one type, kappa or lambda. Tubular injury and dendritic cell activation are integral. Although the liver is the major organ involved in al amyloidosis, hepatic involvement is often clinically asymptomatic and severe intrahepatic cholestasis as the primary manifestation of the.
A nephropathy which presents with nephrotic range proteinuria and rapidly progressive renal failure due to deposition of electrondense material within tubular and glomerular basement membranes. The presence of a nephrotic syndrome and a monoclonal. Serum free light chain assays have been used in a number of published studies which have indicated superiority over the urine tests, particularly for patients producing low levels of monoclonal free light chains, as seen in nonsecretory multiple myeloma and al amyloidosis. Localised nodular pulmonary np lcdd is a rare and poorly characterised entity and, owing to the difficulties in diagnosis, limited data are available. Monoclonal light chain and heavy chain deposition diseases. Bortezomib based chemotherapy for light chain deposition disease vignesh kandakumar1, vishnu nagalapuram 2, sujaya menon3 abstract light chain deposition disease lcdd is a rare systemic disorder in which monoclonal light chains are abnormally secreted due to clonal proliferation of plasma. Renal disease related to waldenstrom macroglobulinaemia. We report an unusual histologic manifestation of lcdd in a 55yearold female patient, who presented with nephrotic syndrome and an increased serum creatinine.
Light chain deposition disease accessed 17 january 2018. Monoclonal gammopathy characterized by overproduction and deposition of nonamyloid immunoglobulin light chains in various organs. In conclusion, light chain deposition disease may affect large airways with a particular endoscopic pattern showing diffuse thickening of the mucosa. This work aims to add evidence and provide an update on the classification and diagnosis of monoclonal immunoglobulin deposition disease midd and primary central nervous system lowgrade lymphomas. A large rod and rhomboidshaped hypereosinophilic crystals are seen. White blood cells defend the body by fighting infection.
Light chain deposition disease affecting the gastrointestinal. Diagnosis and monitoring a case of lightchain deposition. Monoclonal light or heavy chain deposits that cause organ dysfunction. The subtypes are indistinguishable by light microscopy.
May 10, 2012 light chain deposition disease lcdd is an uncommon, clonal plasma cell proliferative disorder, in which monoclonal immunoglobulin light chains deposit in various tissues, resulting in organ dysfunction. Serum free light chain flc levels kappa restricted were available for three patients. Aug 02, 2016 technically, light chain deposition disease lcdd is not considered a cancer. Heavy chain deposition disease is very rare, so the following must be ruled out lymphoplasmacytic lymphoma with igg deposition. A case of light chain deposition disease lcdd in a young patient article pdf available in indian journal of clinical biochemistry 264. Cardiac involvement of light chain deposition disease, also known as cardiac nonamyloidotic immunoglobin deposition disease cidd, is a rare clinical entity, where clinical outcome is very variable and best treatment approaches are not well known. Pulmonary manifestations of light chain deposition disease are rare when considering the full disease spectrum of light chain deposition disease pathology. A case of cardiac light chain deposition disease in a. Hematologic disorders and kidney disease ala abudayyeh, md, and kevin finkel, md. A 59yearold male was diagnosed with nephrotic syndrome secondary to light chain deposition disease. Amyloid light chain al amyloidosis, also known as primary amyloidosis, is the most common form of systemic amyloidosis in the us. Pdf light chain deposition disease restricted to the brain. The same combination is seen also in alamyloidosis, which is more often associated with the lc isotype. In other deposition diseases, the chains will appear to form a pattern and are found in one particular section of the kidney.
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