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]

• Generalized Lymphadenopathy

  A case of gamma heavy chain disease is reported in a 52-year-old white male who presented with fever and generalized lymphadenopathy. A lymph node biopsy showed malignant lymphoma. [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]

• Lymphadenopathy

  The chapters cover infectious lymphadenopathies, reactive lymphadenopathies, lymphadenopathies associated with systemic disorders, lymph node inclusions, spindle cell neoplasms of lymph nodes, foreign body lymphadenopathies, mature B-cell neoplasms, precursor [books.google.com]

  The diagnosis of HD rested upon the presence of systemic lymphadenopathy, the typical histologic pattern and reactivity of Reed-Sternberg cells with the LeuM1-CD15 monoclonal antibody. [ncbi.nlm.nih.gov]

  Lymphadenopathy and constitutional symptoms are the usual features. [11] Localized proliferative disease is found in approximately 25% of γHCD patients. [en.wikipedia.org]

• Constitutional Symptom

  Gamma heavy chain disease most often presents as a lymphoproliferative disorder featured by lymphadenopathies, splenomegaly, and constitutional symptoms. [ncbi.nlm.nih.gov]

  Lymphadenopathy and constitutional symptoms are the usual features. [11] Localized proliferative disease is found in approximately 25% of γHCD patients. [en.wikipedia.org]

  (Wahner-Roedler et al., 2003) Patients with systemic disease typically present with constitutional symptoms such as fever, unintentional weight loss, and malaise. [atlasgeneticsoncology.org]

  The underlying disorders are variable: disseminated lymphoplasma cell proliferative disorders (marked by constitutional symptoms and lymphadenopathy) and localized lymphoplasma cell proliferative disorders (extramedullary or medullary) seem to be more [biochemia-medica.com]

• Splenectomy

  Following splenectomy, the patient has remained in complete remission for both conditions with no further treatment. [ncbi.nlm.nih.gov]

• Intermittent Fever

  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]

• Suggestibility

  The covalent linkage suggests that the hinge region of this gamma heavy chain is intact. [ncbi.nlm.nih.gov]

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]

• Lymphopenia

  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]

• Bicytopenia

  In addition, the presence of an autoimmune bicytopenia and a Klinefelter syndrome complicated the clinical context of the patient. [ncbi.nlm.nih.gov]

• Penicillium

  "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]

  […] associated 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 [malacards.org]

• Pseudomonas

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