Familial paroxysmal peritonitis

DEFINITION

Familial Mediterranean fever is an inflammatory disorder that causes recurrent fevers and painful inflammation of the abdomen, lungs, and joints. It is an inherited disorder that usually occurs in people of Mediterranean origin but can affect any ethnic group.

SYMPTOMS

• Fever
• Abdominal pain
• Chest pain
• Achy, swollen joints
• Constipation followed by diarrhea
• Red rash on legs
• Muscle aches
• Swollen, tender scrotum

CAUSES

Familial Mediterranean fever is caused by a gene mutation in the MEFV gene, passed from parents to children. It affects the body's ability to regulate inflammation.

RISK FACTORS

• Family history of the disease
• Mediterranean ancestry

Complications:

• Abnormal protein accumulation leading to organ damage (amyloidosis)
• Kidney damage
• Infertility in women
• Joint pain

PREPARING FOR YOUR APPOINTMENT

• Be aware of any pre-appointment restrictions
• Write down symptoms and personal information
• Make a list of medications and supplements
• Consider taking a family member or friend along
• Write down questions to ask your doctor

TESTS AND DIAGNOSIS

• Physical exam
• Review of family medical history
• Blood tests
• Genetic testing

TREATMENTS AND DRUGS

• Colchicine to reduce inflammation and prevent attacks
• Other drugs to prevent inflammation if colchicine is not effective

COPING AND SUPPORT

• Learn about the condition
• Find someone to talk with or consider joining a support group

QUESTIONS

1. What are the symptoms of Familial Mediterranean fever?

Fever, abdominal pain, chest pain, joint pain, rash, muscle aches, scrotum swelling.

2. What causes Familial Mediterranean fever?

It is caused by a gene mutation in the MEFV gene.

3. Who is at risk for Familial Mediterranean fever?

Those with a family history of the disease and individuals of Mediterranean ancestry.

4. How is Familial Mediterranean fever diagnosed?

Through physical exams, family medical history review, blood tests, and genetic testing.

5. What complications can arise from untreated Familial Mediterranean fever?

Amyloidosis, kidney damage, infertility in women, joint pain.

6. Is there a cure for Familial Mediterranean fever?

There is no cure, but treatment can help manage symptoms.

7. What medications are used to treat Familial Mediterranean fever?

Colchicine is commonly used to reduce inflammation and prevent attacks.

8. How can one cope with having Familial Mediterranean fever?

Learning about the condition, talking with others, joining support groups.

9. Can children inherit Familial Mediterranean fever from one affected parent?

No, it is an autosomal recessive trait requiring mutations from both parents.

10. What should one do if experiencing symptoms of Familial Mediterranean fever?

Seek medical attention promptly to receive a proper diagnosis and treatment plan.