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Light Chain Disease


Presentation

  • The presented rare form of double myeloma disease with initial renal insufficiency underscores the importance of careful observation and teamwork that can alter the course of this serious disease.[ncbi.nlm.nih.gov]
  • Lambda type light chains were present in the serum.[ncbi.nlm.nih.gov]
  • Bowman's capsule may contain a material that is identical to that present in the center of the nodules.[jasn.asnjournals.org]
  • We present here three case reports which illustrate first, the role of the laboratory staff and second, the use of serum free light chain estimations in the diagnosis and monitoring of patients with light chain paraproteinaemia and myeloma.[ncbi.nlm.nih.gov]
  • The cases presented here indicate that disease progression and relapse may be associated with selective outgrowth of a specific FLC producing clone.[learningcenter.ehaweb.org]
Aspiration
  • For those without light chains in their blood or urine, bone marrow can aspirate to look for abnormal numbers of plasma cells or for the presence of large amounts of light chains.[davita.com]
  • […] to exclude amyloidosis Bone marrow aspiration and biopsy to rule out multiple myeloma Histologic Findings The electron microscopic changes characteristic of light-chain deposition disease (LCDD) demonstrate finely granular, electron-dense deposits in[emedicine.medscape.com]
  • On bone marrow aspiration and biopsy the plasmacytoid cells were increased to 8% with a significant decrease in the other stem cell lines. CT scans of chest and abdomen and a skeletal survey were normal.[academic.oup.com]
  • Cytologic examination of bone marrow aspirate smears typically shows plasma cells with prominent cytoplasmic vacuoles and small, round lymphocytes.[atlasgeneticsoncology.org]
  • A bone marrow aspirate and trephine revealed normal cellular marrow with no morphological or immunophenotypic evidence of MM. Congo red staining was, again, negative and a SAP scan also showed no evidence of amyloid deposition.[wikilite.com]
Rhinitis
  • PubMed CrossRef 19 Powe DG, Groot Kormelink T, Sisson M, Blokhuis BJ, Kramer MF, Jones NS, Redegeld FA: Evidence for the involvement of free light chain immunoglobulins in allergic and nonallergic rhinitis. J. Allergy Clin.[f1000.com]
Skin Lesion
  • Peripheral neuropathy with pain, loss of sensation or an inability to control muscles can develop if the nervous system is involved, and if light chains are deposited in the skin, lesions can appear.[davita.com]
  • Other symptoms of LCDD relate to congestive heart failure, peripheral neuropathy, and skin lesions secondary to the deposition of light chains. Weichman K, Dember LM, Prokaeva T, Wright DG, Quillen K, Rosenzweig M, et al.[emedicine.medscape.com]
  • No sign and symptom of liver or neurological involvement was found, none the less, maculopapular skin lesions were noted in case N02 which may be the sign of cutaneous deposits as described by some authors [ 9, 13, 14 ].[omicsonline.org]
Microscopic Hematuria

Workup

  • Extensive workup showed a faint gamma region band (SPEP); free kappa light chains (urine IFE); kappa level 4165 with kappa/lambda ratio 737.17 (serum free light chains); generalized myopathic MUAPs with fibrillations (EMG), and severe bilateral CTS (EMG[neurology.org]
  • On the other hand, the FLC ratio is abnormal in all patients with LCDD, 1, 6, 7 suggesting that serum FLC measurement should be performed in the diagnostic workup of adults presenting with renal disease, independent of the presence of a serum or urine[bloodjournal.org]
  • Laboratory Studies The laboratory workup for light-chain deposition disease (LCDD) includes the following: Routine serum chemistries to evaluate hepatic and renal function Complete blood cell (CBC) count to assess for anemia Serum and urine electrophoresis[emedicine.medscape.com]
  • The approach for diagnosis with LCDD should be the same as for patients with plasma cell dyscrasias. [11] It should include a thorough history, physical examination, and laboratory and imaging studies (see Presentation and Workup ).[emedicine.medscape.com]
  • Testing for the level of ALP (an enzyme called “alkaline phosphatase”) should be included in your regular blood lab workup. An ALP test measures the amount of this enzyme in the blood.[amyloidosis.org]
Multiple Pulmonary Nodules
  • In all cases there were single or multiple pulmonary nodules, in one case associated with cysts.[jcp.bmj.com]
  • Kijner CM, Yousem SA: Systemic light chain deposition disease presenting as multiple pulmonary nodules. Am J Surg Pathol, 12: 405–413, 1988. PubMed CrossRef Google Scholar 20.[link.springer.com]
  • Systemic light chain deposition disease presenting as multiple pulmonary nodules. A case report and review of the literature. Am J Surg Pathol 1988 ; 12 : 405 –413. View Abstract[erj.ersjournals.com]
Polyps
  • PubMed CrossRef 18 Groot Kormelink T, Calus L, Ruyck Nde, Holtappels G, Bachert C, Redegeld FA, Gevaert P: Local free light chain expression is increased in chronic rhinosinusitis with nasal polyps. Allergy . 2012, 67 :1165–72.[f1000.com]

Treatment

  • If others confirm our data, BD may become the preferred initial treatment for patients with LCDD. Copyright 2009 Ferrata Storti Foundation[doi.org]
  • The treatment continued with hemodialysis 3 times per week with chemotherapy protocol bortezomib, doxorubicin, dexamethasone.[ncbi.nlm.nih.gov]
  • A previous treatment with prednisone melphalan was ineffective.[ncbi.nlm.nih.gov]
  • Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant.[rarediseases.info.nih.gov]
  • General clinical improvement and almost total disappearance of protein from the urine followed treatment with phenylalanine mustard.[ncbi.nlm.nih.gov]

Prognosis

  • This case supports the observation of Hobbs that patients with Bence-Jones myeloma may have a poorer prognosis than those with otherwise typical IgG or IgA myeloma.[ncbi.nlm.nih.gov]
  • The shorter survival of lambda-LCD patients could not be ascribed to an increased incidence of recognized manifestations indicating a poor prognosis (e.g., anemia, hypercalcemia, azotemia, low albumin, the extent of osteolytic lesions, or proteinuria)[ncbi.nlm.nih.gov]
  • Myeloma tubulopathy lesions may be present and in this case seems to be associated with a poor prognosis. Despite its rarity, the prognosis of this disease is poor because as than half of the patients die or progress toward ESRD within 2 years.[omicsonline.org]
  • Although the prognosis for long term kidney health is poor, there are some studies which have shown that some patients have done relatively well.[unckidneycenter.org]
  • Although renal prognosis is poor, patient survival can be considerable with 70 and 37% 5-yr patient survival and renal survival, respectively ( 36 ).[jasn.asnjournals.org]

Etiology

  • Miscellaneous diseases of uncertain etiology. In : Travis WD, Colby TV, Koss MN, Rosado-de-Christenson ML, Müller NL, King TE, eds. Non Neoplastic Disorders of the Lower Respiratory Tract.[erj.ersjournals.com]
  • Etiology Deletions, insertions or point mutations in the constant 1 (CH1) domain of the IgH are acquired during the process of somatic hypermutation.[atlasgeneticsoncology.org]
  • In a group of 13 patients with acute or chronic renal failure of various etiologies, including secondary amyloidosis, and end-stage renal failure on hemodialysis, FLC concentrations were increased in all patients, but the K/L FLC ratio was within the[clinchem.aaccjnls.org]

Epidemiology

  • […] represent an extramedullary manifestation of multiple myeloma while relapsing after chemotherapy. [21] LCDD can also complicate other B-cell lymphomas, such as lymphoplasmacytic lymphoma, marginal-zone lymphoma, and chronic lymphocytic lymphoma. [29] Epidemiology[emedicine.medscape.com]
  • 48-69 Spain [7] 6 2/4 37-74 Europe [2] 63 40/23 58 USA [6] 34 17/17 • MIDD : 57,4 2,12 • MIDD tubulopathy myeloma : 67,1 3,92 Senegal 3 1/2 • LCDD : 61 • LCDD tubulopathy myeloma : 47 et 69 Table 1: Monoclonal Immunoglobulin Deposition Disease (MIDD) epidemiology[omicsonline.org]
  • ., 1998) Epidemiology Mu HCD affects predominantly Caucasian men in their 5th -6 th decades.[atlasgeneticsoncology.org]
Sex distribution
Age distribution

Pathophysiology

  • Immunoglobulin light (heavy)-chain deposition disease: from molecular medicine to pathophysiology-driven therapy. Clin J Am Soc Nephrol. 2006 Nov. 1(6):1342-50. [Medline]. Buxbaum JN, Chuba JV, Hellman GC, Solomon A, Gallo GR.[emedicine.medscape.com]
  • Islet amyloid and type 2 diabetes; from molecular misfolding to islet pathophysiology. Biochim Biophys Acta. 2001;1537:179-203. Sanchorawala V, Wright DG, Seldin DC, et al.[rarediseases.org]
  • Ronco P, Plaisier E, Mougenot B, Aucouturier P (2006) Immunoglobulin light (heavy)-chain deposition disease: from molecular medicine to pathophysiology-driven therapy. Clin J Am Soc Nephrol 1: 1342-1350.[omicsonline.org]
  • The distinction between amyloid light-chain (AL) amyloidosis and MIDD also is justified by the different pathophysiology of amyloid that implicates one-dimensional elongation of a pseudocrystalline structure and MIDD that involves nonorganized amorphous[jasn.asnjournals.org]

Prevention

  • Serum κ and λ light chains are elevated in Crohn’s models and using an experimental blocker prevents these bowel symptoms.[mastattack.org]
  • In most cases, plasmapheresis is used in combination with corticosteroids and immunosuppressive drugs to prevent production of abnormal proteins or to treat the underlying disease.[ncbi.nlm.nih.gov]
  • Experiments have demonstrated that SecB does not recognize leader peptides at all [ Randall 1990 ], but instead recognizes some feature of incompletely folded MBP, which vanishes in the mature MBP, and that SecB and the leader peptide each serve to prevent[cureffi.org]
  • Other possibilities are to prevent the secretion of TGF-β or to interfere with the TGF-β signaling pathway.[jasn.asnjournals.org]
  • In order to prevent further progression of his renal disease, the patient was treated with 3 cycles of VAMP chemotherapy (vincristine 0.4 mg/day for 4 days, doxorubicin 9 mg/m 2 /day for 4 days and methylprednisolone 1 g/m 2 for 5 days per cycle).[wikilite.com]

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