Being rare and probably underdiagnosed diseases the aim of this report is to show an additional case of gamma heavy chain disease in a 48 year old female patient with rheumatoid arthritis focusing on the laboratory presentation. [ncbi.nlm.nih.gov]

Generalized lymphadenopathy, splenomegaly and hepatomegaly are present in about half of the patients. Patients with localized medullary disease typically present with cytopenia, most commonly a normocytic, normochromic anemia. [atlasgeneticsoncology.org]

• Weakness

  Patients with Franklin disease usually have a history of progressive weakness, fatigue, intermittent fever, night sweats and weight loss and may present with lymphadenopathy (62%), splenomegaly (52%) or hepatomegaly (37%). [en.wikipedia.org]

   -HCD age : widely different age groups and countries of origin often with lymphoma-like illness Clinical feature: diverse clinical findings (asymptomatic to aggressive) hepatosplenomegaly, lymphadenopathy (60%) anemia (80 to 100%), fever, malaise, weakness [slideshare.net]

  Often presents with nonspecific weakness and fatigue but any system can be involved. Diagnosis is by serum electrophoresis and bone marrow aspiration. [patient.info]

  Infiltration of the bone marrow by cancerous plasma cells causes other people to have symptoms of recurring infections, such as repeated episodes of fever and chills associated with a decreased number of white blood cells, and fatigue and weakness associated [msdmanuals.com]

• Swelling

  This swelling occurs due to proliferation of the lymphatic tissue that is typically found in this region of the body. If this swelling progresses, it can make breathing difficult. [wisegeek.com]

  Prednisone and dexamethasone can be given with chemotherapy agents or alone for people who cannot tolerate chemotherapy drugs or need them to help to lower calcium levels or to reduce swelling around nerves being pressed upon by masses of plasma cells [emedicinehealth.com]

  Symptoms include pain, swelling, loose teeth, exposed bone, drainage, and infection. This occurs in somewhere between 1 % and 5% of people who have been on the drugs for many years. [cancer.ucsf.edu]

• Inflammation

  × inflammation), multiple myeloma-associated, and a variety of familial types. [nap.edu]

  慢性炎症に伴うびまん性大細胞型B細胞リンパ腫　Diffuse large B-cell lymphoma associated with chronic inflammation (蓮井　和久) (鈴木　紳介) (松下　格司) 389 23. リンパ腫様肉芽腫症　Lymphomatoid granulomatosis (浅野　直子) 393 24. [rnavi.ndl.go.jp]

• Pneumonia

  Sixteen months after diagnosis he died of overwhelming pneumonia caused by Pseudomonas aeruginosa and lebsiella neumoniae. [ncbi.nlm.nih.gov]

  "Penicillium pneumonia in a patient with newly diagnosed Franklin disease". Am J Med Sci. 344 (1): 69–71. doi : 10.1097/MAJ.0b013e31824a8927. PMID 22543591. ^ Wahner-Roedler DL, Witzig TE, Loehrer LL, Kyle RA (2003). [en.wikipedia.org]

  "Penicillium pneumonia in a patient with newly diagnosed Franklin disease". Am J Med Sci. 344 (1): 69–71. doi : 10.1097/MAJ.0b013e31824a8927. PMID 22543591. ↑ Wahner-Roedler DL, Witzig TE, Loehrer LL, Kyle RA (2003). [ipfs.io]

  […] lymphoproliferative disorders through analysis of 13 cases. ( 22301495 ) Bieliauskas S....Cook J.R. 2012 15 Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. ( 23092068 ) Johannis W....Wielckens K. 2012 16 Penicillium pneumonia [malacards.org]

  In some cases, affected individuals are more susceptible to bacterial infections such as pneumonia. The cause of multiple myeloma is unknown. [rarediseases.org]

• Intestinal Disease

  Shih LY, Liaw SJ, Dunn P, Kuo TT: Primary smallintestinal lymphomas in Taiwan: immunoproliferative small-intestinal disease and nonimmunoproliferative small-intestinal disease. J Clin Oncol 1994, 12:1375–1382. PubMed Google Scholar 34. [link.springer.com]

  C88.2 Gamma heavy chain disease C88.3 Immunoproliferative small intestinal disease Corresponding ICD-10-CM Codes (U.S. only) C88.2 Heavy chain disease (effective October 01, 2015) C88.3 Immunoproliferative small intestinal disease (effective October [seer.cancer.gov]

  Lymphoplasmacytic lymphoma MALT variant immunoproliferative small intestinal disease Mu heavy chain disease Myeloma with a t(11;14) translocation Splenic marginal zone lymphoma Board review answer #1 C. [pathologyoutlines.com]

  Three types of heavy chain disease (hcd) have been recognized: gamma heavy chain disease (associated with waldenstrom's macroglobulinemia), alpha heavy chain disease (also known as immunoproliferative small intestinal disease or mediterranean lymphoma [icd10data.com]

  Mu heavy chain disease (see chronic lymphocytic leukemia ) Alpha heavy chain disease / immunoproliferative small intestinal disease (variant of extranodal marginal zone lymphoma) Bibliography Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein [surgpathcriteria.stanford.edu]

• Hepatosplenomegaly

  The patient, a 36-year-old woman, presented fever, enlarged regional lymph nodes, and hepatosplenomegaly, without bone marrow abnormalities but with lymphopenia. Serum electrophoresis did not disclose any M-component. [ncbi.nlm.nih.gov]

  Most patients have system ic symptom s and generalized disease, including lymphadenopathy and hepatosplenomegaly. Prognosis is extremely variable. Low-grade disease may respond to chemotherapy. 2. [seer.cancer.gov]

• Bone Pain

  Often nonspecific presentation with fever, malaise, and bone pain. Clinical indications for screening for M-protein: [ 1 ] Malaise and fatigue. Bone disease (persistent back pain, osteopenia or lytic lesions). Impaired renal function. [patient.info]

  The most common symptom associated with multiple myeloma is bone pain, usually of the lower back or ribs. In most cases, movement worsens the pain, which may be mild, moderate or severe. [rarediseases.org]

In this case serum and urine electrophoresis, and immunofixation studies which are simple and affordable tests facilitated the hematologic workup and follow up. [ncbi.nlm.nih.gov]

CLINICAL PRESENTATION: Patient 1 was a 70-year-old woman, with lymphoplasmacytic lymphoma, refractory to chlorambucil-rituximab treatment. [ncbi.nlm.nih.gov]

545 Dialysis ultrafiltration and hemofiltration 555 Use of drugs in uremia and dialysis 567 Donor and recipient selection in renal transplantation 587 Immunosuppression and treatment of rejection in renal transplantation 595 XIII 606 Renal tubular and [books.google.com]

[…] age : widely different age groups and countries of origin often with lymphoma-like illness Clinical feature: diverse clinical findings (asymptomatic to aggressive) hepatosplenomegaly, lymphadenopathy (60%) anemia (80 to 100%), fever, malaise, weakness Treatment [slideshare.net]

Its prevalence and prognosis are unknown. [ncbi.nlm.nih.gov]

Dx: demonstration of anomalous serum M component (often 5. heavy-chain diseases  -HCD Clinical course and prognosis: variable, but mostly rapid downhill course some survives 5 years with chemotherapy death from infection www.freelivedoctor.com 6. most [slideshare.net]

The prognosis is not so great, with survival on the order of months to a few years. Mu chain disease is very rare, and the prognosis is more variable, on the order of months to many years. [pathologystudent.com]

Prognosis The clinical course is variable, depending on subtype. Outcome is very good in patients without lymphoma, in whom prognosis is related to underlying autoimmune disease. [atlasgeneticsoncology.org]

[…] chronic intestinal infection as etiologic stimulation) heavy-chain diseases  -HCD www.freelivedoctor.com 7. defect in assembly of light and heavy chains may seen with CLL/SLL Clinical feature: Bence Jones proteinuria (kappa light chain in urine) increased [slideshare.net]

[…] blood, skin, subcutaneous tissue Mu: spleen, liver, bone marrow, blood, usually not lymphadenopathy Pathophysiology All: deletions in heavy chain gene result in defective heavy chain protein that cannot bind to light chain to form complete Ig molecule Etiology [pathologyoutlines.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]

Etiology, Epidemiology and Pathophysiology Etiology The cause or causes of myeloma are unknown, but there is some evidence to support a number of theories of its origin, including viral, genetic, and exposure to toxic chemicals, the most notable being [cancer.ucsf.edu]

Nevertheless, the underlying etiologic agents “remain[ed] ill defined,” and they concluded that a variety of infectious agents and perhaps other stimuli might play a role. [nap.edu]

Kyle Springer Science & Business Media, ٣١‏/٠٧‏/٢٠١٢ - 1431 من الصفحات Neoplastic Diseases of the Blood integrates the history, epidemiology, pathology, pathophysiology, and therapeutics of modern neoplastic hematopathology. [books.google.com]

October 01, 2015) Signs and Symptoms Fever (alpha & gamma) Hypocalcemia (alpha) Malabsorption (alpha) Wasting (alpha) Weakness (gamma) Weight loss (gamma) Diagnostic Exams Immunophenotyping Peripheral blood smear Progression and Transformation None Epidemiology [seer.cancer.gov]

Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. [ 1 ] Epidemiology The incidence of a paraprotein is 3.2% in people [patient.info]

[…] autoimmune disease, may be polymorphic Mu may resemble chronic lymphocytic leukemia (CLL) with mix of lymphocytes and characteristic vacuolated plasma cells Terminology Alpha heavy chain is also known as immunoproliferative small intestinal disease (IPSID) Epidemiology [pathologyoutlines.com]

(Wahner-Roedler et al., 2003) Epidemiology Predominantly women with median age at diagnosis 51-68 years. Clinics The clinical presentation of gamma HCD varies according to disease subtype. [atlasgeneticsoncology.org]

Kyle Springer Science & Business Media, ٣١‏/٠٧‏/٢٠١٢ - 1431 من الصفحات Neoplastic Diseases of the Blood integrates the history, epidemiology, pathology, pathophysiology, and therapeutics of modern neoplastic hematopathology. [books.google.com]

Pathophysiology of ECM Accumulation A striking feature of MIDD is the dramatic accumulation of ECM, whose pathogenesis is beginning to be understood. [cjasn.asnjournals.org]

[…] usually not bone marrow or other organs Gamma: lymph nodes or extranodal, Waldeyer ring, gastrointestinal tract, bone marrow, liver, spleen, peripheral blood, skin, subcutaneous tissue Mu: spleen, liver, bone marrow, blood, usually not lymphadenopathy Pathophysiology [pathologyoutlines.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Monoclonal proteins are markers of plasma cell proliferative disorders. [mayomedicallaboratories.com]

Pathophysiology Malignant plasma cells develop from an immune cell called a B lymphocyte. [cancer.ucsf.edu]

In mu HCD, the B cells produce light chains, but they can’t be attached to the mu heavy chains because there are abnormalities in the mu chains that prevent the assembling of complete Ig molecules. [pathologystudent.com]

Infiltration of the intestinal tract wall by cancerous plasma cells often prevents proper absorption of nutrients from food ( malabsorption ), resulting in severe diarrhea and weight loss. A rare form affects the respiratory tract. [msdmanuals.com]

"Immunoglobulin aggregation leading to Russell body formation is prevented by the antibody light chain". Blood. 115 (2): 282–8. doi : 10.1182/blood-2009-07-234864. [en.wikipedia.org]

Platelets, in combination with certain plasma proteins, help produce blood clots, which prevent bleeding. [emedicinehealth.com]