Sickle Cell Disease
Conditions
Keywords
sickle cell disease, hemochromatosis, liver fibrosis, liver cirrhosis, FibroScan, Ferriscan, liver iron
Brief summary
Patients with sickle cell disease many have a number of systemic complications, including liver problems. Some of these liver problems lead to liver fibrosis/cirrhosis, secondary to chronic blood transfusions. The purpose of this study is to investigate FibroScan readings in patients with sickle cell disease and iron overload secondary to blood transfusions, and to correlate the FibroScan results with Ferriscan. A comparison with the results of FibroScan to patients with Sickle cell without known liver disease, who have never been on chronic transfusions and with normal liver function profiles will also be made.The primary hypothesis is that the results of FibroScan will correlate with the results of Ferriscan and liver biopsy.
Detailed description
Liver biopsy is the gold standard to examine the liver for iron deposits and histology. However, liver biopsy is invasive and involves a risk of bleeding and pain. Biopsy may also miss significant pathology if the small biopsy specimen is taken from an uninvolved part of the liver. Non-invasive techniques such as MRI are now used to evaluate the liver iron content. MRI can visualize the whole liver and measure liver iron content. MRI, however, will not detect liver scarring. Liver transient elastography (FibroScan) is a non-invasive ultrasound tool for assessing liver fibrosis or scarring by measuring liver stiffness (LSM). Compared with liver biopsy, FibroScan provides immediate results and is a painless, short (3 mins), simple procedure to perform. In some studies FibroScan reports have correlated well with liver biopsy results of fibrosis and cirrhosis, and with Ferriscan, ferritin and liver function tests. This purpose of this study is to investigate the role of FibroScan in individuals with sickle cell anemia and iron overload or who have a diagnosis of liver disease, and to compare FibroScan readings with magnetic resonance imaging. We will also compare the results of the Fibroscan with liver biopsy. This study will also compare the results of FibroScan to patients with Sickle cell without any known liver disease, who have never been on chronic transfusions (defined as no more than 4 transfusions in lifetime) and who have normal liver function profiles.
Interventions
Fibroscan will be performed as a measure of liver stiffness. The study will be obtained free of charge in this study.
OTHERFerriscan
Ferriscan will be done to assess the quantity of liver iron in iron overloaded subjects.
PROCEDURELiver biopsy in iron overloaded subjects.
Liver biopsy will be done and the results will be compared to Fibroscan results.
Sponsors
University of Miami
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
10 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* pediatric patients age 10 years and older with sickle cell disease * meeting other criteria: 1. history of chronic transfusion and iron overload and/or 2. known liver disease related to sickle cell or iron overload * signed consent and assent (as applicable)
Exclusion criteria
* children younger than 10 years * Pregnant females * Prisoners * Other causes of liver disease, unrelated to sickle cell or iron overload Inclusion criteria for controls: * Patients 10 years and older with sickle cell disease without history of chronic transfusions (less than 4 transfusions in a lifetime) * and without obvious liver disease.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Liver transient elastography (FibroScan) of liver iron content and stiffness | at imaging visit (3 minutes) | Liver transient elastography (FibroScan) uses a probe consisting of an ultrasound transducer located at the end of a vibrating piston. The piston produces a vibration of low amplitude and frequency, which generate a shear wave that passes through the skin and liver tissue. The ultrasound then detects the propagation of the shear wave through the liver (at a depth of 25 - 65 mm below the skin surface) by measuring its velocity. The shear wave velocity is directly related to the tissue stiffness, with a higher velocity equating to higher tissue stiffness, corresponding to increasing severity of fibrosis. |
Secondary
| Measure | Time frame |
|---|---|
| magnetic resonance imaging (MRI) measure of liver iron content and stiffness | at imaging visit (about 30-60 minutes) |
| liver function tests (ALT, AST, serum alkaline phosphate, GGTP, total bilirubin, direct bilirubin), complete blood count, platelets, reticulocyte count, serum ferritin to assess liver function and evaluate overall health | at clinic visit blood draw (about 1 minute) |
Countries
United States
Outcome results
None listed