Familial Mediterranean fever in siblings
Z Birsin Özçakar1, Beyza Doganay Erdogan, Atilla H Elhan
1Department of Pediatric Nephrology and Department of Biostatistics, Ankara University School of Medicine, Ankara, Turkey.
The Journal of Rheumatology
|October 3, 2012
Summary
Siblings with Familial Mediterranean Fever (FMF) show varied clinical symptoms and disease severity. However, they share similar risks for amyloidosis, suggesting genetics play a key role in its development.
Area of Science:
- Genetics and Medicine
- Rheumatology
- Internal Medicine
Background:
- Familial Mediterranean Fever (FMF) is an autoinflammatory disease influenced by genetic and environmental factors.
- Disease severity and amyloidosis development in FMF patients are complex.
- Understanding familial aggregation of FMF characteristics is crucial.
Purpose of the Study:
- To investigate clinical similarities and differences among siblings diagnosed with Familial Mediterranean Fever (FMF).
- To assess within-family concordance in disease severity, MEFV mutations, and treatment response.
- To determine the influence of genetic versus environmental factors on FMF manifestations.
Main Methods:
- Retrospective analysis of 67 pediatric FMF patients from 31 families.
- Evaluation of demographic data, clinical features, laboratory results, and MEFV mutations.
- Intraclass correlation coefficient (ICC) used to quantify within-sibling similarity.
Main Results:
- Most clinical features, disease severity, and colchicine dosages showed low sibling similarity (p > 0.05).
- Age at onset, attack-free acute-phase reactant levels, and presence of amyloidosis demonstrated significant sibling similarity (p < 0.05).
- Amyloidosis was similarly present in siblings, indicating shared risk.
Conclusions:
- Clinical presentation and disease severity of FMF vary significantly among siblings.
- Amyloidosis development in FMF appears to be strongly influenced by genetic factors, showing high concordance within families.
- Further research into genetic determinants of amyloidosis in FMF is warranted.
More Related Videos
Related Concept Videos
01:26Patterns of Fever
Before understanding the types and patterns of fever, it is essential to know its phases.
01:25Types of Fever
Fever can be triggered by several factors, including infections, nervous system disorders, certain cancers, blood diseases like leukemia, embolism, thrombosis, heatstroke, dehydration, surgical trauma, crushing injuries, and allergic reactions.
Here are the different types of fever:
Here are the different types of fever:
01:28Fungal Phylum Microsporidia
Microsporidia are a group of obligate intracellular fungi that were initially classified as protists but were later reclassified based on phylogenetic, molecular, and structural evidence linking them to the Chytridiomycota. These unicellular, non-motile organisms are highly specialized parasites that infect a wide range of animal hosts, including humans. They have evolved extensive genomic and metabolic reductions, making them highly dependent on their hosts for survival.Morphology and Genomic...
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
01:27Cytomegalovirus Disease
Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
01:29Relationship with Other Adult Family Members and Siblings
Other adult family members and siblings play a crucial role in shaping children’s social and emotional development. While parents or primary caregivers are often the central figures in early attachment and socialization, other adults in a child’s life, such as grandparents, aunts, and uncles, can significantly influence developmental outcomes. These influences depend on each adult’s personality and may help compensate when a primary caregiver is emotionally distant or inconsistent. For...