Medical

Localized Types of Amyloid

1. Senile cerebral amyloidosis (Alzheimer disease)

b. Fibrillary protein: (5-amyloid precursor protein (J3APP)

c. Found in Alzhiemer plaques and in cerebral vessels d. The gene for pAPP is located on chromosome 21

2. Senile cardiac amyloidosis a. Type of amyloid: ATTR

b. Fibrillary protein: transthyretin c. Men >70 years old d. May cause heart failure

3. Endocrine type a. Medullary carcinoma of the thyroid (procalcitonin)

b. Adult-onset diabetes (amylin)

c. Pancreatic islet cell tumors (amylin) Clinical Features

1. Distribution of disease in systemic forms a. Kidney i. Most commonly involved organ ii. Nephrotic syndrome iii. Progressive renal failure b. Heart i. Restrictive cardiomyopathy ii. Low voltage EKG

iii. Cardiac arrhythmias and CHF

c. Hepatospleenomegaly d. Gastrointestinal tract i. Tongue enlargement ii. Malabsorption

2. Diagnosis: biopsy of the rectal mucosa, gingiva, or the abdominal fat pad

3. Prognosis: the prognosis of systemic amyloidosis is poor

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