Definition
Marfan syndrome is an autosomal dominant disease (therefore, it is a genetic disease) that affects connective tissue and mainly affects the cardiovascular system, the musculoskeletal system, the eyes and the lungs.
However, since connective tissue is ubiquitous in our body, Marfan syndrome can also affect other areas of the body.
Causes
As mentioned, Marfan syndrome is an autosomal dominant genetic disorder. The trigger, therefore, is a genetic alteration. More in detail, the altered gene is FBN1, located on chromosome 15. This gene codes for a fundamental protein for connective tissue: fibrillin-1.
Symptoms
Individuals with Marfan syndrome are usually very tall and thin, with the upper and lower limbs excessively long compared to the trunk. Even the fingers of the hands are excessively long compared to the palm (in this case, we speak of arachnodactyly).
Marfan syndrome - affecting mainly the cardiovascular, musculoskeletal ocular and pulmonary system - can cause: mitral valve prolapse, mitral valve insufficiency, aortic ring dilation and aortic dissection, angina pectoris, cardiac arrhythmias and other cardiovascular diseases, alterations of the sight, glaucoma, retinal detachment, scoliosis, flat feet and other musculoskeletal disorders, dyspnoea and idiopathic pulmonary obstructive disease.
Furthermore, Marfan syndrome can also affect the skin, face, palate and central nervous system, causing language difficulties as well.
Information on Marfan Syndrome - Drugs and Care is not intended to replace the direct relationship between health professional and patient. Always consult your doctor and / or specialist before taking Marfan Syndrome - Drugs and Care.
drugs
Since this is a genetic disease, there are no real drugs for the treatment of Marfan syndrome. The pharmacological treatment is aimed at reducing the symptoms and slowing down the course, in an attempt to improve the quality of life of the patients who suffer from it and in such a way as to avoid possible complications, especially those of the cardiac type. In this regard, therapies based on antihypertensive drugs can be prescribed, in particular, based on sartans, ACE inhibitors and beta-blockers.
Patients who develop problems with the musculoskeletal system (such as scoliosis) will then have to undergo specific treatment. A similar argument can be made for disorders that occur in the skin, eyes and lungs.
In very severe cases of Marfan syndrome, your doctor may decide to correct excessive aortic dilation through surgery.
Hand in open and closed position: Normal (Left) and in an Individual with Marfan Syndrome (right)
Sartani
Sartans are antihypertensives belonging to the class of angiotensin II receptor antagonists (a peptide hormone that promotes and stimulates vasoconstriction).
The sartans are the drugs most used in the treatment of Marfan syndrome to prevent aortic dilation. Among these, we recall:
- Losartan (Losapre ®, Neo-Lotan ®, Lastan ®, Lorista ®): losartan is available for oral administration. The dose of active ingredient usually used ranges from 12.5 mg to 100 mg a day. The exact dosage of the drug must be established by the doctor.
- Valsartan (Tareg ®): the amount of valsartan usually administered orally is 80-320 mg of drug per day, to be taken in a single dose, or in divided doses. However, it is the doctor who must determine how much valsartan is taking and how often.
- Telmisartan (Micardis ®, Pritor ®, Telmisartan Teva ®, Telmisartan Actavis ®, Telmisartan Teva Pharma ®): the dose of telmisartan usually used in therapy is 20-80 mg of active ingredient per day, to be taken orally. Again, the amount of drug to be taken must be established by the doctor on an individual basis.
ACE-inhibitors
ACE inhibitors are antihypertensive drugs that perform their action by inhibiting the angiotensin-converting enzyme (English: Angiotensin Converting Enzyme, or ACE).
The various types of ACE inhibitors that can be used include:
- Perindopril (Coversyl ®): the dose of perindopril usually administered is 2.5-10 mg of drug per day, to be taken orally. The amount of drug to be used must be established by the doctor depending on the patient's condition.
- Lisinopril (Zestril ®): the amount of lisinopril usually used orally is 5-20 mg of drug per day. Again, it is the doctor who must determine the exact dosage of the drug that must be administered.
- Ramipril (Triatec ®): Ramipril is also available for oral administration. The initial dose of medication usually administered is 1.25-2.5 mg per day. Next, your doctor may decide to increase the dose up to a maximum of 10 mg of ramipril per day.
Beta blockers
Beta-blockers are antihypertensive drugs that perform their action by acting on β-adrenergic receptors.
Among the beta-blockers that can be used for this purpose, we recall atenolol (Atenol ®, Tenormin ®). This drug selectively blocks cardiac β1-adrenergic receptors. It is administered orally at the usual dose of 100 mg a day.
