DÄ internationalArchive49/2008The Importance of Genetic Testing in the Clinical Management of Patients With Marfan Syndrome and Related Disorders: In Reply

Correspondence

The Importance of Genetic Testing in the Clinical Management of Patients With Marfan Syndrome and Related Disorders: In Reply

Dtsch Arztebl Int 2008; 105(49): 862. DOI: 10.3238/arztebl.2008.0862b

Schmidtke, J; Arslan-Kirchner, M; Kodolitsch, Y v

LNSLNS We thank Schilling for his points about the hypermobility syndrome. Such patients do indeed often present with suspected Marfan syndrome. But Marfan syndrome is not—as we explained in detail in our article—one of the collagenopathies but entails fibrillinopathies (1) and a disrupted TGF-beta signal cascade (2). Our article aimed primarily to raise attention for the one complication that is common to all described symptoms: the life threatening thoracic aortic aneurysm. Joint hypermobility is medically of lesser importance and has rarely been reported as an impairment to their quality of life by our patients.

It is regrettable that Schilling states that persons with Marfan syndrome are economically less relevant. This view represents serious stigmatization of many patients with rare disorders. We welcome the fact that this view is beginning to be opposed at the European level (ec.europa.eu/health/ph_threats/non_com/rare_diseases_de.htm) as well as the national level (www.bmbf.de/de/1109.php). DOI: 10.3238/arztebl.2008.0862b


Prof. Dr. med. Jörg Schmidtke
PD Dr. med. Mine Arslan-Kirchner
PD Dr. med. Yskert von Kodolitsch
Institut für Humangenetik
Medizinische Hochschule Hannover
Carl-Neuberg-Str. 1
30625 Hannover, Germany
schmidtke.joerg@mh-hannover.de


Conflict of interest statement
The authors of both the letter and the reply declare that no conflict of interest exists according to the guidelines of the International Committee of Medical Journal Editors.
1.
Dietz HC, Cutting GR, Pyeritz RE et al.: Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337–9. MEDLINE
2.
Faivre L, Collod-Beroud G, Loeys BL et al.: Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007; 81: 454–66. MEDLINE
1. Dietz HC, Cutting GR, Pyeritz RE et al.: Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337–9. MEDLINE
2. Faivre L, Collod-Beroud G, Loeys BL et al.: Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007; 81: 454–66. MEDLINE