Cryoglobulinemia Rheumatology Rotation Dr. Hamid Mojab PGY4

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Cryoglobulinemia RHEUMATOLOGY ROTATION PGY4 Hamid Mojab Case Presentation - Ms. P • • 36 year-old female, writer PMHx: IVDU, ex-smoker No meds, no allergies Malaise, fever, arthralgias x 1 week Prescribed Ciprofloxacin, no change • • • • 3 day hx of chills, sore left wrist, rash Ms. P – Physical Exam  Looks unwell Diaphoretic BP 140/80; HR 96; RR 18; O2 sat 98%; Temp 38.5°C • • • • H&N: anterior cervical lymphadenopathy,  ulcers Resp: clear BS bilaterally CVS: JVP flat, N S1S2,  murmur/rub,  edema Abdo: soft, non-tender,  HSM Derm: raised violaceous lesions lower legs MSK: active joints (left wrist, right ankle) Neuro: grossly normal,  asterixis • • • Ms. P – Evaluation • Hb 105; WBC 12.2; Plt 170, normal coags • ESR 78, AST 123; ALT 139; ALP 108; Bili 20 • Na 140; K 3.7; HCO3 22; Cl 103 • Cr 170; Urea 15 • Urinalysis: protein 1+, blood 2+ • Microscopy: many RBCs, heme granular casts, RBC casts • Joint aspirate: cell count 25,000 with 78% PMN, gram stain negative, culture pending • EKG and CXR normal Ms. P – Evaluation • Admitted, IV fluids started • Derm/Rheum/Nephro/ID consult! • Skin biopsy taken • No Abx started • Blood/Urine/Throat/Rectal C&S, Hepatitis serology, HIV, RF, ANA, ANCA, C3/C4, cryoglobulins sent Ms. P – Evaluation • Skin biopsy: leukocytoclastic picture • ANA positive 1:80 homogenous • RF positive 1: 1280 • C3 normal;  C4 • ANCA negative • Cultures negative • 24 hour urine: 1.4g protein • Hep B sAg negative, Hep sAb positive • Hep C Ab positive • Abdo U/S: small nodular liver with no focal lesions, N sized kidneys, borderline spleen, normal flows Cryoglobulins • Described by Wintrobe and Buell in 1933 • Immunoglobulins (Ig) that precipitate in cold (<37°C), dissolve on rewarming • Classification based on composition of Ig Brouet Classification • Type I (5-25%): monoclonal Ig (IgA, IgM, IgG) • Type II (40-60%): “essential mixed” contains both a polyclonal IgG + monoclonal IgM Rheumatoid Factor • Type III (40-50%): mixed, but both IgG and RF IgM are polyclonal Brouet Classification Type I Multiple Myeloma Type II Hep C/ Hep B Type III Autoimmune disease (SLE, RA, PAN, Sjogren’s, HSP) Waldenstrom’s HIV Infection (Hep C, EBV, CMV, Toxo, SBE, HIV, Malaria) Miscellaneous (biliary cirrhosis) MGUS Lymphoma/CLL CLL Essential Essential Pathophysiology • Mediated by deposition of Ag-Ab complexes in small sized arteries Pathophysiology Interaction between predisposed host and environmental trigger Ig production 2° to chronic immune stimulation + lymphoproliferation Defective + insufficient clearance of immune complexes Tissue accumulation Clinical Presentation- Type I • • May be asymptomatic Classically produces signs related to hyperviscosity  thrombosis • • • • Raynaud’s Digital ischemia gangrene Livedo reticularis Purpura Clinical Presentation-Type II/III • Constitutional + cutaneous symptoms purpura, arthralgias, myalgias  “Meltzer’s Triad” Cutaneous • • MSK Pulmonary Neurologic Hematologic Renal • • • • Clinical Presentation-Cutaneous • • • • Develop in nearly all patients May precede extracutaneous manifestations by decades Purpura of lower extremities Ulcers • • • • Raynaud’s Livedo reticularis Acrocyanosis Post-inflammatory hyperpigmentation Clinical Presentation-MSK • Myalgias • • Arthralgias (MCP, PIP, knees, ankles) Arthritis or myositis rare Clinical Presentation-Neuro • Mononeuritis multiplex • Cranial nerve palsy Clinical Presentation-Pulmonary • Dyspnea • • • Cough Pleuritis BOOP, pulmonary hemorrhage, pulmonary vasculitis rare Clinical Presentation-Heme • Anemia (normochromic, normocytic) • • Factitious thrombocytosis, leukocytosis Underlying malignancy (e.g., lymphoma) Clinical Presentation-Renal • • Present in ~ 20% at time of dx Type II: 35-60% • • Type III: 12-20% Variable presentation • HTN • Proteinuria • Hematuria • Cr • ESRD Renal Histology • Classically in Type I Membranoproliferative GN • • Focal and mesangioproliferative GN Membranous GN Thrombotic microangiopathy • Renal Histology- MPGN • Thickening of BM • Cellular proliferation (esp. macrophages) Intraluminal thrombi (precipitated CG) Diffuse IgM deposition Subendothelial deposits “fingerprints” • • • Cryoglobulin Thrombi Fingerprint Pattern Diagnosis • History • • • Physical exam Hypocomplementemia Circulating cryoglobulins Diagnosis Disease Severity Severe disease manifested by: – progressive renal failure – distal necroses requiring amputation – advanced neuropathy Treatment  Treat  Start underlying cause (Type I) treatment in any symptomatic disease  Corticosteroids  Plasmapheresis  Cytotoxic agents (cyclophosphamide) (IFN  ± Ribavirin) in refractory case  Anti-virals  Rituximab Treatment of Renal Disease HCV + HCV - PEG-IFN Ribavirin Non-peg IFN  (renal clearance)   Steroids Cytotoxic Agents Plasmapheresis Rituximab  ?       RRT   Indications For Aggressive Therapy In Idiopathic Mixed Cryoglobulinemia  progressive renal failure   distal necroses requiring amputation advanced neuropathy Aggressive Therapy In Idiopathic Mixed Cryoglobulinemia  plasmapheresis (to remove the circulation cryoglobulins) steroids (1000 mg of intravenous methylprednisolone daily times three, followed by conventional oral prednisone) and cyclophosphamide to prevent new antibody formation  Treatment  Optimal method for assessing the efficacy of plasmapheresis is – uncertain – reasonable prescription - exchange one plasma volume three times weekly for two to three weeks  Limited evidence suggesting that combination therapy is beneficial in patients with HCV – Induced cryoglobulinemia i.e., ribavirin and interferon-alfa therapy (Six months)  HCV induced cryoglobulinemia refractory to interferon alfa alone Treatment    Ribavirin contraindicated in renal insufficiency. In one study – two patients with moderate renal insufficiency (serum creatinine 159 and 195 µmol/L – successfully treated with aproportionate reduction in the ribavirin dose  optimal dose and duration of interferon: uncertain Treatment Rituximab  Is anti-CD20 chimeric monoclonal antibody rituximab, which depletes B cells, appears promising – as investigational treatment – is indicated for refractory treatment – partially controlled by previously recommended treatment – given once per week for four weeks  effectively treated skin manifestations    peripheral neuropathy low-grade B cell lymphoma, and/or arthralgias 15 patients with resistant or difficult to manage disease Cryoglobulinemia-Prognosis  Mean survival ~70% at 10 years after onset of symptoms, 50-70% at 10 years after diagnosis   Death typically from infection and CVD Complications (renal failure) predict poorer outcomes ESRD-Prognosis  Survival on dialysis similar to patients with other causes of ESRD   Renal transplant can be successful Significant disease can recur in 5070% even if in remission at time of transplant Back to the Case……. • Skin biopsy: leukocytoclastic picture • ANA positive 1:80 homogenous • RF positive 1: 1280 • C3 normal;  C4 • ANCA negative • Cultures negative • 24 hour urine: 1.4g protein • Hep B sAg negative, Hep sAb positive • Hep C Ab positive • Abdo U/S: small nodular liver with no focal lesions, N sized kidneys, borderline spleen, normal flows Back to the Case……. • Cryoglobulins: cyrocrit of 8% with mixed IgG and polyclonal IgM • Treated initially with plasmapheresis and steroids • Later switched to IFN- + ribavirin once ARF resolved Red Flag  be alert for symptoms suggestive of cryoglobulinemia – purpuric rash – arthralgias – Raynaud phenomenon in chronic HCV infected patients should measure serum cryoglobulins   Questions?

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