Genetic and Radiological Screening of First Degree Family Members of Patients with Familial Liver Adenomatosis
- Conditions
- benign liver tumorliveradenomatosis100198061001965410019813
- Registration Number
- NL-OMON31682
- Lead Sponsor
- Academisch Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 40
Inclusion Criteria
1. Patients diagnosed with liver adenomatosis by histology or imaging studies
2. First line family members of 1.
2. Minimal age 18 years old
3. Informed consent must be obtained
Exclusion Criteria
1. Patients under 18 years of age
2. Patients who are pregnant
3. Patients who are claustrofobic (MRI)
4. Patients who have magnetic or radiofrequency sensitive implants (MRI)
5. Patients with extreme obesity (MRI+US)
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>- Hepatic lesions on ultrasound and/or contrast-MRI in all patients<br /><br>- Genetic abnormalities (CYP1B1, HNF-1 alpha, ß catenin) in LA index-patients<br /><br>- Genetic abnormalities in first line relatives of LA patients diagnosed with<br /><br>germline mutations.<br /><br>- Genetic abnormalities in first line relatives diagnosed with adenomas on<br /><br>imaging studies</p><br>
- Secondary Outcome Measures
Name Time Method <p>-Hepatic fat content (MRS) and metabolic profile (blood analysis) in LA patients<br /><br>-Hepatic fat content (MRS) and metabolic profile (blood analysis) in first<br /><br>degree familymembers with germlinemutations and/or adenomas on imaging studies.</p><br>