The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.

The diagnosis of Marfan syndrome (MFS) is based on evaluating a large number of clinical criteria. We have observed that many persons presenting in specialized centers for "Marfan-like" features do not have MFS, but exhibit a large spectrum of other syndromes. The spectrum of these syndromes and the distribution of "Marfan-like" features remain to be characterized. Thus, we prospectively evaluated 279 consecutive patients with suspected MFS (144 men and 135 women at a mean age of 34+/-13 years) for presence of 27 clinical criteria considered characteristic of MFS. The most frequent reasons to refer individuals for suspected MFS were skeletal features (31%), a family history of MFS, or aortic complications (29%), aortic dissection or aneurysm (19%), and eye manifestations (9%). Using established criteria, we confirmed MFS in 138 individuals (group 1) and diagnosed other connective tissue diseases, both with vascular involvement in 30 (group 2) and without vascular involvement in 39 (group 3), and excluded any distinct disease in 72 individuals (group 4). Clinical manifestations of MFS were present in all four patient groups and there was no single clinical criterion that exhibited positive and negative likelihood ratios that were per se sufficient to confirm or rule out MFS. We conclude that "Marfan-like" features are not exclusively indicative of MFS but also of numerous, alternative inherited diseases with many of them carrying a hitherto poorly defined cardiovascular risk. These alternative diseases require future study to characterize their responses to therapy and long-term prognosis.

[Analysis of costs and profits of ambulatory care of Marfan patients after initiation of a novel German legal directive (116 b SGB V)]. / Analyse der Erlössituation bei der ambulanten Behandlung nach 116 b SGB V am Beispiel des Marfan-Syndroms.

BACKGROUND: The Marfan syndrome is a typical rare disease with multiorgan involvement and the need for specialized interdisciplinary medical care. A novel German legal directive according to section sign 116 b of the Social Statutes Book V (116 b SGB V) improves options for reimbursement and thus encourages specialized hospitals to provide ambulatory care for rare diseases such as Marfan syndrome. The authors provide the first economic analysis of section sign 116 b in a German Marfan center. METHODS: The costs were assessed in 184 cases with Marfan syndrome receiving medical care in the Hamburg Marfan Clinic. The authors assessed the financial profit both according to payments received from invoices established according to the 116 b directive [reimbursement (116b)] and from calculations according to section sign 117 SGB V [reimbursement (117)]. RESULTS: A total of 117 patients traveled to the Marfan clinic (64%) < 50 km, 27 patients (15%) between >or= 50 and 100 km. The total costs for ambulatory care were 71,606.28 Euro. The reimbursement (116b) was 55,549.87 Euro and the reimbursement (117) was 11,776.00 Euro. CONCLUSION: Many patients accept long distances of traveling to receive specialized ambulatory medical care. However, for optimal patient management specialized centers need to cooperate intensively with local health care providers. The novel legal directive according to section sign 116 b has significantly improved reimbursement for Marfan centers and allows for improving the quality of medical care.