Amyloidosis
Conditions
Keywords
amyloidosis, arthritis & connective tissue diseases, genetic diseases and dysmorphic syndromes, rare disease
Brief summary
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.
Detailed description
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.
Interventions
None listed
Sponsors
Indiana University School of Medicine
National Center for Research Resources (NCRR)
Eligibility
Sex/Gender
ALL
Age
0 Years to No maximum
Healthy volunteers
No
Inclusion criteria
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
Countries
United States
Outcome results
None listed