Condition Lookup
Category:
Plasma Cell Disorders
Number of Conditions: 10
Familial Renal Amyloidosis
Specialty: Hematology
Category: Plasma Cell Disorders
Symptoms:
proteinuria; edema (swelling); fatigue; hypertension; renal failure; weight loss; neuropathy
Root Cause:
Deposition of amyloid fibrils in the kidneys, caused by inherited mutations in genes encoding amyloidogenic proteins (e.g., transthyretin or fibrinogen).
How it's Diagnosed: videos
Biopsy of kidney tissue with Congo red staining, genetic testing for amyloidogenic mutations, serum and urine protein electrophoresis.
Treatment:
Organ transplantation (e.g., kidney), suppression of amyloid precursor proteins through liver transplantation (if related to transthyretin), and supportive renal care.
Medications:
Tafamidis (transthyretin stabilizer) or diflunisal (NSAID that stabilizes transthyretin). These medications help reduce amyloid formation. Other treatments may include diuretics for edema and antihypertensives for blood pressure management.
Prevalence:
How common the health condition is within a specific population.
Rare; exact prevalence varies depending on the specific mutation and geographic region.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of amyloidosis, specific gene mutations (e.g., transthyretin variants like V30M), and advanced age.
Prognosis:
The expected outcome or course of the condition over time.
Varies depending on the mutation and treatment; kidney function may be preserved with early diagnosis and intervention, but progression to renal failure is possible.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic kidney disease, end-stage renal failure, systemic amyloidosis affecting other organs (e.g., heart, nerves).
Gamma Heavy Chain Disease
Specialty: Hematology
Category: Plasma Cell Disorders
Symptoms:
lymphadenopathy; splenomegaly; fatigue; weight loss; fever; night sweats
Root Cause:
Abnormal production of truncated gamma heavy chains by plasma cells, often associated with lymphoproliferative disorders.
How it's Diagnosed: videos
Serum protein electrophoresis (SPEP), immunofixation electrophoresis, biopsy of lymphoid tissue, and imaging studies (e.g., CT or PET scan).
Treatment:
Chemotherapy (e.g., CHOP regimen) or targeted therapy depending on the underlying lymphoproliferative disorder; supportive care.
Medications:
Chemotherapeutic agents (e.g., cyclophosphamide , doxorubicin , vincristine , prednisone ) and monoclonal antibodies (e.g., rituximab for associated B-cell lymphomas).
Prevalence:
How common the health condition is within a specific population.
Extremely rare; predominantly reported in middle-aged and older individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Age, underlying lymphoproliferative disorders, and possibly genetic predisposition.
Prognosis:
The expected outcome or course of the condition over time.
Variable; dependent on the associated condition. Prognosis improves with effective treatment of the underlying disorder.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Transformation to aggressive lymphoma, systemic amyloidosis, or organ dysfunction.
Immunoglobulin-Related Amyloidosis
Specialty: Hematology
Category: Plasma Cell Disorders
Symptoms:
fatigue; edema; dyspnea; neuropathy; cardiac arrhythmias; proteinuria
Root Cause:
Misfolded immunoglobulin light chains or fragments aggregate to form amyloid deposits, affecting multiple organs (e.g., kidneys, heart, liver).
How it's Diagnosed: videos
Tissue biopsy with Congo red staining, mass spectrometry to confirm amyloid type, serum and urine immunofixation electrophoresis, and free light chain assay.
Treatment:
Chemotherapy targeting plasma cells (e.g., bortezomib, dexamethasone), autologous stem cell transplantation, and supportive care for organ-specific symptoms.
Medications:
Bortezomib (proteasome inhibitor), cyclophosphamide (alkylating agent), and dexamethasone (corticosteroid) are common. Monoclonal antibodies like daratumumab may also be used.
Prevalence:
How common the health condition is within a specific population.
Rare; approximately 4,000 new cases annually in the U.S.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Monoclonal gammopathies (e.g., MGUS, multiple myeloma), age > 60, and male gender.
Prognosis:
The expected outcome or course of the condition over time.
Varies based on organ involvement and response to therapy; cardiac involvement worsens prognosis.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Heart failure, renal failure, autonomic neuropathy, and organ dysfunction.
Light Chain-Associated Renal Disorders
Specialty: Hematology
Category: Plasma Cell Disorders
Symptoms:
proteinuria; nephrotic syndrome; renal insufficiency; hypertension
Root Cause:
Deposition of monoclonal light chains in kidney tissues, causing structural damage (e.g., light chain cast nephropathy, AL amyloidosis).
How it's Diagnosed: videos
Kidney biopsy with immunofluorescence, serum and urine electrophoresis, and free light chain assays.
Treatment:
Targeted chemotherapy to reduce light chain production and supportive renal care, including dialysis if needed.
Medications:
Bortezomib (proteasome inhibitor), lenalidomide (immunomodulatory drug), and dexamethasone (corticosteroid).
Prevalence:
How common the health condition is within a specific population.
Rare; often associated with multiple myeloma or MGUS.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Plasma cell dyscrasias, genetic predisposition, and advanced age.
Prognosis:
The expected outcome or course of the condition over time.
Guarded; progression to end-stage renal disease is common without effective treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic kidney disease, dialysis dependency, systemic amyloidosis.
Light-Chain Deposition Disease
Specialty: Hematology
Category: Plasma Cell Disorders
Symptoms:
fatigue; shortness of breath; edema (swelling in the legs); proteinuria; hypertension; progressive kidney failure
Root Cause:
Abnormal deposition of monoclonal light chains in tissues, typically the kidneys, leading to structural damage and organ dysfunction.
How it's Diagnosed: videos
Diagnosed through kidney biopsy revealing light-chain deposits, serum and urine protein electrophoresis, immunofixation electrophoresis, and free light chain assay. Additional tests may include imaging for organ involvement and blood work to evaluate renal function.
Treatment:
Treatment focuses on controlling the underlying plasma cell disorder using chemotherapy or immunotherapy and managing organ damage through supportive care like blood pressure control and dialysis if needed.
Medications:
Medications include bortezomib (a proteasome inhibitor), dexamethasone (a corticosteroid), and lenalidomide (an immunomodulatory agent). These target the abnormal plasma cells producing the light chains. Supportive medications may include antihypertensives and diuretics.
Prevalence:
How common the health condition is within a specific population.
Rare condition, exact prevalence unknown but more common in association with plasma cell dyscrasias like multiple myeloma.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Plasma cell disorders (e.g., MGUS or multiple myeloma), family history of plasma cell dyscrasias, older age.
Prognosis:
The expected outcome or course of the condition over time.
Prognosis varies depending on the extent of organ damage and response to treatment. Early detection and effective plasma cell suppression improve outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic kidney disease, nephrotic syndrome, organ failure (commonly renal), and progression to systemic amyloidosis or multiple myeloma.
Monoclonal Gammopathies of Undetermined Significance (MGUS)
Specialty: Hematology
Category: Plasma Cell Disorders
Symptoms:
typically asymptomatic; rarely, mild fatigue, bone pain, or neuropathy if associated conditions develop
Root Cause:
Presence of an abnormal monoclonal protein (M protein) produced by a small number of plasma cells in the absence of significant disease or organ damage.
How it's Diagnosed: videos
Detected through blood tests showing an M-protein spike in serum protein electrophoresis (SPEP), immunofixation, and a normal free light chain ratio. Absence of end-organ damage differentiates it from active plasma cell disorders.
Treatment:
No specific treatment required; regular monitoring of blood markers and organ function to detect progression.
Medications:
None typically prescribed; symptomatic conditions (if present) are managed with supportive care.
Prevalence:
How common the health condition is within a specific population.
Affects about 3% of individuals over 50 years old and 5% over 70 years old.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Older age, male sex, African-American ethnicity, and family history of plasma cell disorders.
Prognosis:
The expected outcome or course of the condition over time.
Generally excellent; however, approximately 1% of cases per year progress to multiple myeloma, Waldenström macroglobulinemia, or amyloidosis.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Potential progression to malignancy (e.g., multiple myeloma), amyloidosis, or other plasma cell disorders.
Mu Heavy Chain Disease
Specialty: Hematology
Category: Plasma Cell Disorders
Symptoms:
fatigue; fever; enlarged lymph nodes; splenomegaly; anemia
Root Cause:
Abnormal production of truncated mu heavy chains by malignant B-cells, often associated with chronic lymphoproliferative disorders.
How it's Diagnosed: videos
Serum and urine protein electrophoresis reveal mu heavy chains. Diagnosis confirmed with immunofixation and bone marrow biopsy.
Treatment:
Chemotherapy targeting the underlying lymphoproliferative disorder, often using regimens for chronic lymphocytic leukemia (CLL).
Medications:
Medications include fludarabine (a purine analog), rituximab (a monoclonal antibody), and cyclophosphamide (an alkylating agent).
Prevalence:
How common the health condition is within a specific population.
Extremely rare; only a few dozen cases reported in medical literature.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Chronic lymphoproliferative disorders such as CLL or small lymphocytic lymphoma.
Prognosis:
The expected outcome or course of the condition over time.
Highly variable; depends on the underlying lymphoproliferative disease and treatment response.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Progressive organ dysfunction due to malignant proliferation, anemia, and infections.
Multiple Myeloma
Specialty: Hematology
Category: Plasma Cell Disorders
Symptoms:
bone pain; fatigue; frequent infections; anemia; hypercalcemia; renal impairment; pathological fractures
Root Cause:
Malignant proliferation of plasma cells in the bone marrow producing large amounts of monoclonal protein, leading to bone damage, immunosuppression, and organ dysfunction.
How it's Diagnosed: videos
Diagnosed via serum and urine electrophoresis (identifying M protein), bone marrow biopsy, imaging (e.g., X-rays, CT, or MRI), and evidence of end-organ damage (CRAB criteria).
Treatment:
Combination of chemotherapy, targeted therapy, immunotherapy, and autologous stem cell transplant.
Medications:
Commonly prescribed are bortezomib (proteasome inhibitor), lenalidomide (immunomodulator), dexamethasone (corticosteroid), and daratumumab (monoclonal antibody). Bisphosphonates like zoledronic acid are used to reduce bone complications.
Prevalence:
How common the health condition is within a specific population.
Affects 4–5 per 100,000 people annually, more common in older adults.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Older age, male sex, African-American ethnicity, family history, and MGUS.
Prognosis:
The expected outcome or course of the condition over time.
Improved with modern therapies but still considered incurable; median survival varies from 5–10 years depending on stage and response to treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe bone pain, fractures, kidney failure, hypercalcemia, anemia, and susceptibility to infections.
Solitary Plasmacytoma
Specialty: Hematology
Category: Plasma Cell Disorders
Symptoms:
localized bone pain; swelling; pathological fractures; or compression symptoms if in soft tissue
Root Cause:
A localized collection of clonal plasma cells in bone or soft tissue without systemic disease.
How it's Diagnosed: videos
Identified through imaging (e.g., MRI, CT) and biopsy confirming plasma cell infiltration. Normal bone marrow and absence of systemic signs of myeloma.
Treatment:
Localized radiotherapy or surgical excision. Monitoring for progression to multiple myeloma.
Medications:
None typically required unless progression occurs; supportive medications for pain management may include analgesics or bisphosphonates.
Prevalence:
How common the health condition is within a specific population.
Rare; accounts for about 5% of all plasma cell disorders.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Similar to those of multiple myeloma.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with localized treatment; 10-year progression-free survival rates are around 50–70%.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Progression to multiple myeloma, bone fractures, or soft tissue dysfunction.
Waldenström Macroglobulinemia
Specialty: Hematology
Category: Plasma Cell Disorders
Symptoms:
fatigue; weakness; anemia; enlarged lymph nodes; hyperviscosity syndrome; bleeding tendencies; night sweats
Root Cause:
A type of lymphoplasmacytic lymphoma characterized by excess production of IgM monoclonal protein, leading to hyperviscosity and other systemic issues.
How it's Diagnosed: videos
Diagnosis involves serum protein electrophoresis, immunofixation, bone marrow biopsy, and clinical evaluation for symptoms of hyperviscosity or organ involvement.
Treatment:
Plasmapheresis for hyperviscosity, chemotherapy, immunotherapy, and targeted therapies.
Medications:
Common options include rituximab (monoclonal antibody), ibrutinib (Bruton’s tyrosine kinase inhibitor), and bendamustine (alkylating agent).
Prevalence:
How common the health condition is within a specific population.
Rare, with an incidence of about 3 per million annually. More common in older adults.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Older age, male sex, family history, and MGUS.
Prognosis:
The expected outcome or course of the condition over time.
Slowly progressive but treatable; median survival ranges from 5–10 years, depending on response to therapy.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Hyperviscosity syndrome, neuropathy, bleeding, infections, and secondary amyloidosis.