Diseases of the heavy chain (BTC) - Rare tumor disease lymphoproliferative nature, in which there is defective synthesis of immunoglobulins (with missing fragments of light chains). There are several variants of the disease - BTC-α, BTC-γ, BTC-μ and BTTS- δ. Clinical manifestations are caused by lesions of the lymphatic system and blood-forming organs (enlargement of the liver, spleen, lymph nodes, diarrhea, edema, exhaustion, and so on. D.). Diagnosis is based on carrying out complex immunopatohimicheskih research. Treatment is directed at suppressing tumor through chemotherapy (cytotoxic drugs, corticosteroids scheme).
Heavy chain disease
hematological malignancies), characterized by hypersecretion heavy chain fragments and the complete absence of light chains of immunoglobulins of various classes, which leads to defeat lymphatic and hematopoietic systems. There are diseases γ (gamma), α (alpha), μ (mu) and extremely rare - δ (delta) heavy chains.
The clinical picture of the disease in this group is similar to lymphoma. There are disease heavy chains mainly in adults aged 20-40 years, most inhabitants of the Mediterranean countries. Total in the world recorded a few hundred cases of this variant paraproteinemic hematological malignancies and 85% of them are patients BTC-α. First heavy chain disease with secretion of the heavy chain fragments γ (gamma) described in Franklin 1963 year.
helminth infections, autoimmune diseases (rheumatoid arthritis, Sjogren's syndrome, autoimmune hemolytic anemia, and others.). Due to the upcoming somatic mutations plasma cells lose part of the structural genes for the production of immunoglobulin light chains, and start hypersecretion aberrant heavy chains. This diseased heavy chain (in the central part thereof has a deletion of CH1 portion) can not bind to the light chain immunoglobulins are synthesized and inferior, defective. Excessive amounts of heavy chains leads to their accumulation in the cell structural components such as the endoplasmic reticulum and Golgi apparatus, and damage them eventually to cell death.
The disease is the alpha chain (BTC-α) is the most common variant heavy chain disease, affecting mostly adults aged 20-40 years living in Mediterranean countries and suffering from various intestinal diseases. Abdominal BTC-α appears malabsorption syndrome: malabsorption of food with the development of severe prolonged diarrhea, edema, skin lesions, hair loss, exhaustion. Patients are often concerned about pain in the abdomen, weakness, fever may be transient. Typically, peripheral lymph nodes are not enlarged liver and spleen of normal size. Very rare bronchopulmonary disease heavy alpha-chains, manifested pulmonary lesions and mediastinal lymphadenopathy.
Disease μ (mu) heavy chains - a rare disease observed in some patients with chronic lymphocytic leukemia. This nonspecific symptoms: lymph nodes were not enlarged, there may be a hepatomegaly, recurrent fever, signs of intoxication.
Disease delta chains occurs only rarely (described isolated cases of the disease), manifested bone marrow with the clinical picture observed in multiple myeloma (bone pain, pathological fractures, bleeding, thrombosis, anemia syndrome), chronic renal failure.
Clinical analysis of blood revealed anemia, often - leukopenia by reducing the number of granulocytes, the appearance of atypical lymphoid and plasma cells, and thrombocytopenia. ESR is usually raised. Bone marrow examination is marked increase of plasma cells (or lymphocytes).
The final diagnosis is made after the immunochemical analysis of serum proteins and identify structurally defective H-chains, is not associated with light chains. Thus monoclonal immunoglobulins are detected in which there is only a fragment of the heavy chain. The number of different classes of immunoglobulins normal reduced. Depending upon the particular disease heavy chains during precision analysis - can be detected paraprotein immunofixation alpha, gamma or mu chains. When BTC-α fragments of the alpha-chain can be detected not only in blood and urine of the patients, but also in the small intestinal mucosa and in the saliva of the patients. In some cases, conducting immunocytochemical diagnosis does not establish the correct diagnosis in the absence of serum at the time of examination of the pathological protein.
Differential diagnosis of disease heavy chains held with lymphoblastic lymphoma, acute and chronic leukemia, autoimmune hemolytic anemia, immunodeficiency disorders of various etiologies, autoimmune diseases, malignant neoplasms. In the process of diagnostics consultations of a hematologist, oncologist, allergist-immunologist, infectious disease, and other professionals, performed an endoscopic examination of the stomach and duodenum 12 the large intestine, airway, if necessary - computed tomography of the chest, bowel, pelvic ultrasound of abdominal and thyroid, as well as other studies.
non-Hodgkin's lymphomas (cyclophosphamide, doxorubicin, prednisone, and other drugs in accordance with the selected treatment protocol option). Sometimes it is good, but a short-term positive therapeutic effect was recorded in the local irradiation of the spleen and lymph nodes.
When disease-alpha heavy chain, in some cases good results can be achieved by using in acute prolonged antibiotic therapy with penicillin and tetracycline preparations and metronidazole for 6-9 months. In this form of the disease is sometimes radiation therapy in conjunction with the reception of glucocorticosteroid hormones.
The prognosis of disease heavy chains generally unfavorable, therapeutic measures can achieve a temporary remission for 0.5-1 years.