Heavy chain disease.
ABSTRACT The heavy chain diseases (HCDs) are rare B-cell malignancies that are distinguished by the production of a monoclonal immunoglobulin heavy chain (HC) without an associated light chain by the malignant B-cells. There are three types of HCD defined by the class of immunoglobulin (Ig) HC produced: IgA (alpha-HCD), IgG (gamma-HCD), and IgM (mu-HCD). Alpha-HCD is the most common and occurs most commonly as intestinal malabsorption in a young adult from a country bordering the Mediterranean Sea. Treatment consists of antibiotics and improved nutrition and hygiene. Surgery is occasionally required for patients with bulky masses at risk for bowel perforation. If there is no response to antibiotics or if aggressive non-Hodgkin's lymphoma (NHL) is diagnosed, the patient should be treated with chemotherapy. Gamma- and mu-HCD are rare and essentially are found in patients with a B-cell NHL that produces an abnormal Ig heavy chain. These patients occasionally may be diagnosed with a monoclonal gammopathy of undetermined significance (MGUS). Patients with MGUS with NHL should be administered chemotherapy. Screening the serum and urine of patients with lymphoplasmacytoid NHL would likely identify more patients with gamma- or mu-HCD.
- SourceAvailable from: Giampaolo Merlini[Show abstract] [Hide abstract]
ABSTRACT: Introduction of spectrophotometric detection of serum indices and decision rules to be carried out manually increased the detection rate of relevant hemolysis 6.04- fold. After introduction of the algorithm in the LIS, the detection rate for relevant serum interference was 69.37- fold higher than in the first 1-year period. For icteric samples, a large increase in reported interference was observed: whereas the occurrence of icterus in the sample was not reported at all in the first period, during the second 1-year period, 0.05% of specimens were reported as significantly icteric, causing deviations in the assay results. This number was increased 10-fold (0.54%) in the third period. Interestingly, only one case of lipemia was reported in the first period and none in the second period. Appar- ently, automated spectrophotometric detection together with written instructions in the second 1-year period did not lead to adequate reporting to the clinician. In the third year, 1012-fold more cases of clinically relevant lipemia were reported than in the first year. It should be pointed out here that the evaluation performed and the observed quality improvement depend on the validity of the auto- mated procedure. Summarizing, we believe that this algorithm can be used as a blueprint for processing of test results in general. Every test result is now evaluated automatically in real time against predetermined tolerance limits for the extent of interfering substances, and the algorithm is designed as an almost technician-independent method. We encourage cooperation in this project, and copies of the MISPL algorithm and tolerance tables can be obtained free of charge from the corresponding author.
- [Show abstract] [Hide abstract]
ABSTRACT: Objective: The IV Immunochemistry Workshop supported by the "Sociedad Española de Inmunología" (SEI), consisted in a series of inter- laboratory comparative studies to evaluate the homogeneity of the analy- tic methods in immunochemistry. The objective was to develop quality control tools to standardise diagnostic analytic procedures. Methods: 21 centres have participated in the Workshop. It comprised the quantification of IgG, IgA, IgM, and total IgE κ and λ light chain Immu- noglobulin; Complement C3 and C4; Rheumatoid Factor (RF); C-reactive protein (CRP), and Antiestreptolysin O (ASL) in commercial control serumInmunologia 04/2009; 28(2).
- [Show abstract] [Hide abstract]
ABSTRACT: An 84-year-old Japanese man was admitted because of pancytopenia. The bone marrow was hypoplastic with a predominance of abnormal small lymphocytes and grape cells, which were positive for CD19 and CD20, and partially for the surface ĸ-light chain. Systemic CT scanning showed neither lymph node swelling nor hepatosplenomegaly. Serum immunoelectrophoresis and rocket immunoselection assays showed the presence of monoclonal IgG protein without a corresponding light chain and faint IgMĸ monoclonal protein. Histologic analysis of the clot preparation of the bone marrow aspirate facilitated a diagnosis of lymphoplasmacytic lymphoma (LPL). PCR analysis of the marrow cells demonstrated a clonal rearrangement of the immunoglobulin heavy-chain gene. From these results, we made a final diagnosis of γ-heavy-chain disease (γ-HCD) with underlying LPL localized in the bone marrow. We performed only a single course of immunochemotherapy (rituximab and fludarabine) in view of severely impaired hematopoiesis, which resulted in marked reduction of lymphoma cells and improvement of hematopoiesis. This report suggests the efficacy of rituximab plus fludarabine therapy for LPL-associated γ-HCD.Acta Haematologica 08/2012; 128(3):139-43. · 0.89 Impact Factor