Summary about Disease
Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue provides support and structure to the body, and it affects many systems, including the skeleton, eyes, heart, and blood vessels. Marfan syndrome is characterized by unusually long limbs, fingers, and toes, as well as potential problems with the heart and aorta (the large artery that carries blood from the heart). The severity of symptoms can vary greatly among individuals.
Symptoms
Symptoms of Marfan syndrome can vary widely. Some common symptoms include:
Skeletal: Tall and slender build, disproportionately long arms, legs, fingers, and toes (arachnodactyly), curved spine (scoliosis or kyphosis), chest that sinks in or sticks out (pectus excavatum or pectus carinatum), flexible joints, flat feet, high-arched palate and crowded teeth.
Cardiovascular: Aortic aneurysm (enlargement of the aorta), aortic dissection (tear in the wall of the aorta), mitral valve prolapse (MVP), heart murmurs.
Ocular: Dislocated lens (ectopia lentis), nearsightedness (myopia), glaucoma, cataracts.
Other: Stretch marks on the skin (striae) even without weight change, dural ectasia (enlargement of the sac surrounding the spinal cord).
Causes
Marfan syndrome is caused by a mutation in the FBN1 gene. This gene provides instructions for making fibrillin-1, a protein that is a crucial component of connective tissue. A mutation in this gene weakens the connective tissue, leading to the characteristics of Marfan syndrome. It is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to cause the disorder. In about 25% of cases, the mutation occurs spontaneously (de novo) and is not inherited from a parent.
Medicine Used
There is no cure for Marfan syndrome, so treatment focuses on managing symptoms and preventing complications. Medications used may include:
Beta-blockers: To slow the heart rate and reduce the force of heart contractions, helping to prevent aortic dilation and dissection (e.g., propranolol, atenolol).
Angiotensin II receptor blockers (ARBs): Used to lower blood pressure and reduce stress on the aorta (e.g., losartan). Often used in combination with beta-blockers.
Other blood pressure medications: To manage hypertension and reduce stress on the cardiovascular system.
Pain relievers: For joint or bone pain.
Is Communicable
No, Marfan syndrome is not communicable. It is a genetic disorder, meaning it is caused by a gene mutation and cannot be spread from person to person through any means (e.g., airborne, direct contact, bodily fluids).
Precautions
Precautions for individuals with Marfan syndrome include:
Regular medical checkups: Including echocardiograms, eye exams, and skeletal evaluations.
Avoid strenuous activity and contact sports: To reduce the risk of aortic dissection and other injuries.
Avoid isometric exercises (weightlifting): these increase blood pressure.
Inform healthcare providers: About Marfan syndrome before any medical procedures.
Genetic counseling: If considering having children.
Maintain a healthy weight: To reduce stress on joints and the cardiovascular system.
Avoid smoking: Which can damage blood vessels.
Manage stress: To help maintain stable blood pressure.
How long does an outbreak last?
Marfan Syndrome is a chronic condition present from birth, not an outbreak. It's a lifelong condition that requires ongoing management. The severity of symptoms and the lifespan of an individual with Marfan syndrome can vary based on the effectiveness of treatment and the presence of complications.
How is it diagnosed?
Marfan syndrome is diagnosed based on clinical criteria (revised Ghent criteria), which consider a combination of factors, including:
Physical examination: Assessing for characteristic features (e.g., tall stature, long limbs, arachnodactyly).
Family history: Determining if there is a history of Marfan syndrome or related conditions.
Echocardiogram: To evaluate the heart and aorta.
Eye exam: To check for lens dislocation, myopia, glaucoma, and cataracts.
Genetic testing: To identify a mutation in the FBN1 gene. However, a negative genetic test does not rule out Marfan syndrome.
Timeline of Symptoms
Symptoms can appear at different ages and progress at varying rates:
Childhood: Skeletal features (tall stature, long limbs, scoliosis), nearsightedness, early heart murmurs may be noticed.
Adolescence: Progression of scoliosis, development of aortic dilation, lens dislocation may occur.
Adulthood: Increased risk of aortic dissection or aneurysm, mitral valve prolapse complications, glaucoma, cataracts. Some individuals may not experience significant symptoms until adulthood.
Lifelong: Ongoing monitoring and management of cardiovascular, skeletal, and ocular complications are necessary throughout life.
Important Considerations
Pregnancy: Women with Marfan syndrome require careful monitoring during pregnancy due to the increased risk of aortic dissection.
Surgery: Individuals with Marfan syndrome may require surgery to repair aortic aneurysms, correct scoliosis, or address other complications.
Lifelong management: Marfan syndrome requires ongoing management by a team of specialists, including a cardiologist, ophthalmologist, orthopedist, and geneticist.
Support groups: Connecting with other individuals with Marfan syndrome can provide emotional support and valuable information.
Early diagnosis and treatment: Early diagnosis and treatment can significantly improve outcomes and prolong life expectancy.