Overview
Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that leads to recurrent fevers and painful inflammation in the abdomen, chest, and joints. It is usually diagnosed during childhood and can affect individuals of any ethnic background, although it is more common in people of Mediterranean descent, such as those of Jewish, Arab, Armenian, Turkish, North African, Greek, or Italian ancestry. There's no cure for FMF, but managing the symptoms through proper treatment can alleviate or prevent the signs and symptoms.
Understanding the disease
Risk Factors
The risk factors for developing familial Mediterranean fever (FMF) include:
- Family history: If you have a family history of FMF, you have a higher risk of developing the disorder.
- Mediterranean ancestry: People of Mediterranean origin, particularly those with Jewish, Arab, Armenian, Turkish, North African, Greek, or Italian ancestry, may be more likely to develop FMF. However, it can affect people from any ethnic group.
- Gene mutation: FMF is caused by a gene mutation passed down from parents to children. The gene change affects the pyrin protein, which regulates inflammation in the body. It's important to note that while these factors may increase the risk of developing FMF, they do not guarantee that a person will have the disorder. Additionally, FMF can occur in anyone, regardless of their risk factors.
Development
Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that occurs due to a gene change or mutation in the MEFV gene, which affects the function of the immune system protein pyrin, leading to problems in regulating inflammation in the body. This gene change can be passed down from parents to children, especially those with a family history of the disorder or Mediterranean ancestry. The development of FMF is triggered by various factors, some of which include emotional stress, menstruation, exposure to cold, and physical stress such as illness or injury. As a result, people with FMF experience recurrent fevers and painful inflammation of the abdomen, chest, and joints. Although there is no cure for FMF, following a treatment plan can help manage symptoms and prevent complications, such as amyloidosis, which can cause organ damage.
Assessment and Diagnosis
Diagnosis
To diagnose Familial Mediterranean Fever (FMF), healthcare providers typically follow a combination of physical examination, review of family medical history, lab tests, and genetic testing. The process may involve:
- Physical exam: The healthcare provider assesses the patient's signs and symptoms and conducts a physical examination.
- Family medical history: A family history of FMF increases the likelihood of developing the condition, as it is inherited through genes.
- Lab tests: During an FMF attack, blood and urine tests may show elevated levels of specific markers, such as elevated white blood cells and protein in the urine.
- Genetic testing: Genetic testing can determine if the MEFV gene contains a gene change linked to FMF. However, it is not considered the sole diagnostic method due to the possibility of false-negative results. It may be recommended for first-degree relatives or other at-risk individuals. It's important to consult with a healthcare provider or rheumatologist for proper diagnosis and management of FMF.
Management and Treatment
Complications
Potential complications of familial Mediterranean fever (FMF) include inflammation-related issues such as amyloidosis, which can lead to organ damage. Amyloidosis occurs when the body produces an abnormal protein called amyloid A during FMF attacks, causing inflammation in organs like the kidneys. Other complications may include anemia, thrombocytopenia, heart problems, complications involving the nervous system, and swollen tonsils. It's important to manage FMF with proper treatment to prevent or minimize these potential complications.
Preparing for medical consultation
To prepare for an appointment for familial Mediterranean fever, you should:
- Be aware of any pre-appointment restrictions: Ask your health care provider if there are any specific instructions or preparations needed before the appointment, such as dietary restrictions, fasting requirements, or medication adjustments.
- Gather information about your symptoms and medical history: Write down the details of when your symptoms began, how often they occur, their duration, and any triggers or warning signs you've noticed. Also, include your family medical history, especially if you have blood relatives with FMF.
- Prepare a list of medications and supplements: Make a list of all prescription medications, over-the-counter drugs, and supplements you or your child are currently taking, as well as their dosages.
- Compile a list of questions: Write down any questions or concerns you have about the condition, diagnosis, tests, treatment, or any other relevant topics. By coming prepared with this information, you can make the most of your appointment time and ensure that your healthcare provider has a comprehensive understanding of your symptoms and medical history.