Study of Systemic Amyloidosis Presentation and Prognosis
| Status: | Recruiting |
|---|---|
| Conditions: | Hematology |
| Therapuetic Areas: | Hematology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/2/2016 |
| Start Date: | January 1979 |
OBJECTIVES: I. Analyze prospectively the course of amyloid deposition in patients with
primary, secondary, myeloma-associated, and hereditary amyloidosis.
II. Determine abnormalities of humoral and delayed-type hypersensitivity in these patients.
III. Identify prognostic factors in hereditary amyloidosis and develop tests for genetic
defects associated with systemic amyloidosis.
IV. Diagnose familial amyloidotic polyneuropathy (FAP) prior to symptom onset. V. Validate
the correlation of low serum prealbumin and retinol binding protein levels with amyloidosis
in patients with FAP.
primary, secondary, myeloma-associated, and hereditary amyloidosis.
II. Determine abnormalities of humoral and delayed-type hypersensitivity in these patients.
III. Identify prognostic factors in hereditary amyloidosis and develop tests for genetic
defects associated with systemic amyloidosis.
IV. Diagnose familial amyloidotic polyneuropathy (FAP) prior to symptom onset. V. Validate
the correlation of low serum prealbumin and retinol binding protein levels with amyloidosis
in patients with FAP.
PROTOCOL OUTLINE: Patients receive a comprehensive evaluation with an emphasis on
identifying prognostic and diagnostic factors. Assessments include gastrointestinal, renal,
hematologic, dermatologic, cardiac, and serologic studies. Immunologic studies include
antinuclear antibody, latex fixation, and serum and urine electrophoresis.
Genetic trees are constructed using detailed family history data; blood and urine samples
are routinely collected from relatives. Family members of patients with familial amyloidotic
polyneuropathy type II (Indiana type) undergo a flexor retinaculum biopsy of the wrist.
identifying prognostic and diagnostic factors. Assessments include gastrointestinal, renal,
hematologic, dermatologic, cardiac, and serologic studies. Immunologic studies include
antinuclear antibody, latex fixation, and serum and urine electrophoresis.
Genetic trees are constructed using detailed family history data; blood and urine samples
are routinely collected from relatives. Family members of patients with familial amyloidotic
polyneuropathy type II (Indiana type) undergo a flexor retinaculum biopsy of the wrist.
PROTOCOL ENTRY CRITERIA:
--Disease Characteristics-- Systemic amyloidosis, i.e.: Primary, myeloma associated
Secondary, e.g., associated with the following conditions: Rheumatoid arthritis
Inflammatory bowel disease
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