Marfan's syndrome 4.6/5 (5)

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Marfan Syndrome. Illustration: Thumb and little finger meet at Marfan's syndrome. Illustration from Staufenbiel I et al. CC BY 2.0

Marfan's syndrome. ICD-10 Q87.4

Definition

Marfan Syndrome is a hereditary (genetic) disease (autosomal dominant) caused by defect (misfolding) in the protein fibrillin-1 encoded by the gene FBN1 on chromosome15. Thus, Marfan's syndrome is a congenital, genetic condition that differs from the systemic autoimmune connective tissue diseases. About 25% are spontaneous mutations without family disposition (Big Norwegian Leksikon, A Heiberg 2009). Along with vascular form (which attacks blood vessels) of Ehlers-Danlos syndrome, Loeys-Dietz syndrome og hereditary thoracic aortic aneurysm (HTAD), the disease forms part of the hereditary "Marfan-like" diseases.

Occurrence

Prevalence: 1 among 20.000 persons (approx. 500 in Norway). Marfan's disease is thus defined as one rare disease.

Symptoms

Marfan syndrome, hands

Marfan Syndrome. Long, thin fingers at Marfan's syndrome. Illustration: Department of Pedodontics, SRM Dental College, SRM University, Chennai 600078, India. CC BY 3.0

The skeletal system

Eyes

The heart and blood vessels

  • Most serious complications that can be life threatening
  • Irregular heart rhythm
  • Heart valve leak
  • Extended diameter of the aorta artery (aortic aneurysm)
  • Aortic dissection (Damage and leakage of the bloodvessel wall)
  • Special attention in pregnancy is important

Lungs

Diagnosis

Often used criteria for diagnosis (2010 Ghent) which distinguishes between those who have Marfan's disease in their immediate family and those without hereditary disposition:

Without hereditary disposition:

  • Aortic root expanded (Z-score ≥2) and ectopic lens
  • Aortic root expanded (Z-score ≥2) and FBN1 mutation (gene test)
  • Aortic root expanded (Z-score ≥2) and systemic score *> 7 points (especially scoring system *)
  • Ectopic lens and FBN1 mutation with known aortic infection

With family with Marfan's disease:

  • Ectoptic lens
  • Systemic score * Aortic root expanded ≥7
  • Aorttic root enlarged (Z-score ≥ 2)

* Pectus carniatum = 2 (pes excavatum or asymmetric = 1), Malleol deformity (ankle) = 2 (flat foot = 1), Dural ectasi = 2, Protrusio acetabuli = 2, Dys proportional arm length = 1, Scoliosis or kyphosis = 1, Reduced Elbow Extension = 1, Facial Skeleton Changes = 1, Striae in Skin = 1, Myopy = 1, Mitral Prolapse = 1.

Old criteria: Major criteria (at least 4):

  1. Reduced proportion of upper body / lower body ratio (0,85 vs 0,93 in normal)
  2. Arachnodactyli (fingers, toes), positive thumb-wrist test)
  3. Scoliosis more than 20 degrees or spondylolistesis
  4. Medial malleol misalignment giving pes planus (plate foot)
  5. Reduced extension of elbows (<170 degres)
  6. Pectum carniatum (bird breast) (Differential Diagnosis: Morquio syndrome, Noonan syndrome, Trisomi 18, Trisomi 21, Homocystinuria, Osteogenesis imperfecta, Multiple lentigine syndrome, and Sly syndrome)
  7. Pectus excavatum (funnel chest) that requires surgery
  8. Protrusio Acetabuli (Differential diagnoses: Paget's syndrome, rheumatoid arthritis, ankylosing spondylitis, osteomalacia)

Genetics / Heredity

Prognosis

There is still no treatment that cures Marfan's syndrome. But the prognosis has improved a lot over the last ten years. This is related to the use of regular medical follow-up that includes cardiac specialist (cardiologist) checks, blood vessel tests to exclude or follow up aneurysms and treatment of pneumothoraks.

Incorrect diagnosis? (Similar diseases / differential diagnoses)

Treatment

No curative treatment is available

  • If enlargement of the arteries (aneurysms) occur, may surgery to prevent the artery from bursting (aortaruptur) become necessary.
    • Karate surgeons / thoracic surgeons have guidelines for when operations should be performed.
    • Such interventions are carried out, among other things, at Rikshospitalet in Oslo
  • Blood pressure measurements are important to detect any high blood pressure that may increase the risk of aortic aneurysms
  • Usual physical activity is recommended. Intensive, hard physical exercise increases the pressure on the blood vessels and should be avoided
  • Cortisone and other immunosuppressive treatment have no place in the treatment of hereditary connective tissue diseases, unlike autoimmune connective tissue disease
  • Tablets in the form of a beta-blocker can reduce blood vessel complications and are recommended for many
  • The treatment is otherwise dependent on any complications from the eyes, joints, spinal column and the like

Follow-up

Regular blood vessel monitoring is important

  • MRI angiography produces the major arteries from the head, neck, chest, abdomen and pelvis
  • Also included ultrasound Doppler / echocardiography the diameter of the main artery at the heart and the aortic arch can be measured
  • If the artery expands, measurements are made about every six months, otherwise annually for a longer period
  • Also by CT examination the entire main artery can be displayed. The investigation is not done too often because of X-rays

Referral to specialist

Literature


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