Download amyloidosis

CASE REPORT
66-year-old woman
MA: nephrotic syndrome
History:
1970 - hypertension related to fibromuscular dysplasia of the
right renal artery; saphenous-vein bypass graft had failed,
resulting in a poorly functioning right kidney
1976 - developed angina pectoris
1981 - diabetes mellitus was discovered, successfully
managed with insulin therapy
1995 - urea nitrogen level 12 mmol/l, creatinine 114.9
umol/l
1997 - coronary artery bypass grafting, cardiac ultrasonographic
examination performed slight widening of the left ventricular
outflow tract, with Doppler evidence of mitral regurgitation
1998 - bilateral carpal tunnel syndrome developed, and the
patient began to have nocturnal „burning pain“ in her feet, with
loss of vibratory sensation
1 month later, proteinuria developed, increasing peripheral
edema, diuretic medication caused frequent orthostatic
hypotention and syncope
1999 - intermittent constipation and diarrhea develop, with
normal findings on stool examinations
- the splenic tip was palpated 4 cm below the left costal
margin
- a ventricular-demand, dual chamber electronic
pacemaker was implanted because of syncope associated with
complete atrioventricular block
2000 – intermittent claudication, voice became weaker, with
hoarsenes and a nonproductive cough
First admission:
The pattient was admitted to the hospital because of
increasingly frequent episodes of syncope, her blood pressure
in the upright position was as low as 60/40 mm Hg, and a new
grade 2 systolic murmur was heard. There were
edema.
peripheral
Laboratory:
urea (mmol/l)
creatinine (umol/l)
protein (g/l)
albumin (g/l)
calcium (mmol/l)
phosphorus (mmol/l)
glucose (mmol/l)
Sodium (mmol/l)
Potassium (mmol/l)
Chloride (mmol/l)
TSH (μU/ml)
T4 (nmol/l)
I. admission
14.63
353.6
52
12
14.3
68.21
Hematologic findings:
I. admission
Hematocrit
MCV
Iron
3.1
Iron-binding capacity (μmol/l) 25
White-cell count (per mm3)
Platelet count (per mm3)
II. admission
12.675
380
51
13
1.95
N
5.66
142
2.8
101
-
II. admission
26.3
88
9.000
505.000
Urine: specimen of urine 24 h: 9,57 g of protein, 0,462 g
of creatinine
Cardiac ultrasonographic examination: left ventricle - marked
concentric hypertrophy; estimated ejection franction, 65 %;
mitral valve - calcification of the annulus, papillary-muscle
displacement; aortic valve – cusp thickening; without stenosis;
right ventricle – wall thickening; estimated systolic pressure 42
mm Hg; Doppler study – moderate mitral regurgitation, mild
aortic, tricuspid, and pulmonary regurgitation.
Second admission:
6 weeks after discharge, the patient was readmitted. Her edema
began increase, with worsening dyspnea and more frequent
anginal attacks. TT 37,1 C, BP 110/50, P 68, grade 3 systolic
murmer over precordium and at the apex. The spleen was
palpated 9 cm below the costal margin. Peripheral edema,
vibratory sensation was impared
ECG: a normal rhythm P 76/min, first-degree AV block (208
msec), and a pattern indicative of an old anterior myocardial
infarction, with nonspecific ST-segment and T-wave
abnormalities and very low voltage in extremity leads.
Radiograph of the chest: showed slight cardiac enlargement
and a moderate increase in bilateral pleural effusions. The
leads of a dual-chamber electronic pacemaker appeared intact.
Abdominal radiograph: showed moderate splenomegaly and
calcifications in the splenic and common iliac arteries.
SUMMARY OF EXAMINATIONS:
- nephrotic syndrome
- heart failure (restrictive cardiomyopathy according to clinical
findings, ECG, Doppler +US)
- bilateral sensory neuropathy
- bilateral carpal tunnel syndrome
- hoarseness
- hypothyroidism
- splenomegaly
- normocytic anemia
- thrombocytosis
- diabete mellitus
- orthostatic hypotension
- intermittent constipation and diarrhea
1. TASK
What is the origin of peripheral edema? When can we find the
nephrotic syndrome (NS)? What is typical for the NS? What are
the complications of NS?
(primary retention of Na and water, hypoproteinemia, heart
failure)
(FSGN, MN, MZ, diabetic nephrosclerosis, SLE, amyloidosis)
(infection, thromboembolic disease, changes in lipids
metabolism, protein malnutrition)
2. TASK
Restrictive cardiomyopathy was considered as a diagnosis.
What can cause this disease?
Myocardial (noninfiltrative disorders-idiopathic disease, familial,
hypertrophy, scleroderma, DM, pseduxanthoma elasticum,
infiltrative disorders- amyloidosis, sarcoidosis, m. Gaucher, m.
Hurler, fatty infiltration, storage disorders- hemochromatosis, m.
Fabry, glycogen storage disease)
Endomyocardial (fibrosis, hypereosinophilic sy, carcinoid,
metastatic cancer, exposure to radiation, toxins, anthracycline,
serotonin, busulfan, mercurial agents)
3. TASK
Why had she angina pectoris? What is the source of rhythm
abnormalities?
4. TASK
What is the main cause of peripheral sensoric neuropathy?
5. TASK
Why had she an orthostatic hypotension? Is there any
convince with intestine dyscomfort?
6. TASK
How to explain splenomegaly and thrombocytosis together?
7. TASK
What type of systemic disease can be considered as a final
diagnose?
AMYLOIDOSIS
- systemic
- topic
- senile
- 14 different proteins-SAA, monoclonal lambda or kappa Ig
light chains, mutant transthyretin,cystatin, ANP
AL (primary amyloidosis)
- monoclonal lambda or kappa Ig light chains produced by a
clonal plasma-cell dyscrasis
ATTR (familial)
- mutant transthyretin
AA (secondary)
- amyloid A protein produce in response to a chronic
inflammatoy state
Anatomical diagnosis:
Systemic amyloidosis, AL type (serum protein electrophoresis
showed IgG lambda M components), with restrictive
cardiomyopathy and involvement of the kidney, spleen, larynx,
blood vessels, and peripheral nerves.