A strange case of heart failure

We describe the case of a 74 years old woman who arrived to our attention for appearance of dyspnoea for some months; she also showed poor appetite with weight loss, in the last days prior to hospitalization reported dyspnoea at rest and paroxysmal nocturnal dyspnoea associated with peripheral edema epigastralgia, easy tiredness, intense asthenia. In history she reported cigarette smoking, previous right mastectomy for cancer, right saphenectomy, COPD with periodic seasonal riacerbazioni, dysthyroidism levotirosina treated with 125 mcg/day, hypertension treated with calcium antagonist and beta blocker. When she came to the hospital her medical condition were mediocre; wakeful, anxiety syndrome, dry and pale mucous membranes, dyspnoea at rest, SO2 95% aa. PA 180/70 mm/hg, Fc 88 m, chest Hypophonesis bases, weakened MV. Abdomen treatable and painful in the epigastric region, peripheral oedema. Blood tests showed: PCR 0.10 mg/dl, VES 39 at first hour, fibrinogen 357 mg/dl, haemoglobin 9.3mg/dl, GR 2930000 mmc, sideremia 102 mg/dl, ferritin 287 ng/ml, vit.B12 1922 pg/ml (vn 180-914), creatinine 2.1 mg/ dl, creatinine clearance 40 ml/min, FT3 2.42 pg/m ml (2.20-4.20), FT4 13.34 pmol/L (9-16), TSH 10.839 μlU/ml (0.300-4.200), ABTG 41.30 Ul/ ml (<4.00), ABTPO <9.0 Ul/ml (<9.0), TRAB 36.00 Ul/L (<1 negative). BNP 1255 pg/dl (vn. 0-100), troponin 0.13 ng/ml. autoimmunity negative, tumour markers negative, except CA 125 64.40 U/ml (0.00-24.80), Beta- 2-microglobulin 4831 ng/ml (vn. 1010-2150); for the presence of monoclonal peak at protidogramma they have been made also: IgA 24 mg/dl (70- 400), IgM 17 mg/dl (40-230), IgG 1115 mg/dl (700-1600), immunofixation serum and urinary positive. (TIPO: I.F.E. su siero: presence of a monoclonal component type IgG k). K chains 3.47 g/l (vn 1.38-3.75), lambda chains 0.20 (vn 0.93-2.42), Kappa/lambda ratio 17.35 (vn 0.75-4.50), Protein of Bence-Jones 30 mg/dl (0-50). Eco-fast showed modest pleuropericarditis (right pleural basis flap height 4 cm, sn height 3,5 cm, pericardial flap 5-10 mm ubiquitously, estimate effusion 250-300 cc), hypertrophic cardiomyopathy, diastolic dysfunction and valid systolic function (FE 76%); no ascites, kidneys of normal size. EGDS: antritis hyperaemia. For the presence of kidney and heart damage, in the absence of positive history for organic pathology, for the severity of the clinical information, the patient underwent a per umbilical fat biopsy which revealed the presence of lobules of fibroadipos tissue with extravasations of blood and focal deposits, inhomogeneous in the per vascular of a cellular amorphous material which was positive to Congo Red, compatible with amyloidal. Subsequently was performed biopsy of the colonic mucosa which confirmed the presence of focal positivity to Congo Red in correspondence to muscularis mucosae. Then was diagnosed amyloidosis systemic AL probably primitive, for the presence of a serum and urine monoclonal component. It wasnt possible to continue the diagnostic procedure, because of the rapid disease progression, and the impairment of general clinical condition. The patient in fact after a massive antibiotic treatment for pneumonia, developed acute renal failure on chronic, for this reason she has been subjected to haemodialysis therapy based on a new technology for the direct and effective removal of the free light chain protein (FLC). It was used a particular filter, Theralite which uses an exclusive membrane technology , able to remove serum free light chains and other plasma components with a molecular weight up to 45 kDa. Dialytic therapy was conducted daily, (3 hours) and after 6 treatments we had the recovery of renal function with recovery of diuresis and normalization of laboratory analysis. Despite treatment efforts in a short time we saw a rapid progression of the disease complicated by severe sepsis and subsequent cardio respiratory failure which led the patient to death after a few months of diagnosis. Amyloidosis is a rare disease, estimated incidence 9 cases per million person due to deposition of extracellular proteins, in the form of insoluble fibrils. We know 4 different shapes: AL amyloidosis due to deposition of light chains produced by a plasma cell clone often associated with a diagnosis of multiple myeloma; AA amyloidosis, reactive form, due to deposition of serum amyloid fibrils as C-reactive protein; hereditary amyloidosis, due to deposition of transthyetin or A-I apolipoprotein; senile amyloidosis, due to deposition of transthyretin wild type. The diagnosis of certainty is placed on the basis of the immunohistochemical analysis in electron microscopy which allows to co-locate antibodies against the precursor protein and the fibrils.