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Læknablaðið - 15.08.1996, Side 9

Læknablaðið - 15.08.1996, Side 9
LÆKNABLAÐIÐ 1996; 82 557 Marfans heilkenni á íslandi Einar Örn Einarsson1), Ragnar Danielsen2’, Haraldur Sigurösson3) og Einar Stefánsson3’ Einarsson EÖ, Danielsen R, Sigurðsson H, Stefáns- son E Marfan’s syndrome in Iceland Læknablaðið 1996; 82: 557-62 Marfan’s syndrome is a heritable collagen disorder manifested by defects in the ocular, skeletal and cardiovascular systems. It is inherited as an autoso- mal dominant trait. The objectives of this study were to study the prevalence and clinical presentation of Marfan’s syndrome in Iceland. We assessed the rec- ords of patients diagnosed with Marfan’s syndrome during the years 1989-94 at all the major hospitals in Iceland. Hospital cardiologists, pediatricians and ophthalmologists gave valuable information, as did some general practitioners. All patients who agreed to participate were evaluated by an ophthalmologic inspection and an echocardiogram was obtained. A family history was taken and a general physical ex- amination was performed. Twenty two patients were evaluated, at the age seven to 71 years. Seven- teen of them had a definitive diagnosis of Marfan’s syndrome with a mean age of 27 years. Five patients did not meet the clinical criteria for Marfan’s syn- drome. Accordingly the prevalence of Marfan’s syn- drome in Iceland is 6.5/100.000. Ocular involvement was observed in 14 (82%) and 11 (65%) had a dis- located lens. Cardiovascular abnormalities were seen in 11 (65%) patients, nine (53%) had aortic root dilatation and six (35%) had mitral valve prolaps. AIl patients had skeletal abnormalities. They were tall, skinny, with long extremeties and arachnodac- tyly. Pectus carinatum was observed in seven (41%) patients. A family history was noted in 12 patients and five (29%) seem to be sporadic cases. Thus, Marfan’s syndrome exists in Iceland and it's preva- Frá "Læknadeild Háskóla íslands, z)lyflækningadeild Land- spítalans, 3)augndeild Sjúkrahúss Reykjavíkur. Fyrirspurnir, bréfaskipti: Ragnar Danielsen, Haraldur Sigurðsson. Lykilorð: Marfans heilkenni, algengi, klínísk einkenni. lence and clinical presentation seems to be in con- cordance with other published studies in the western world. Keywords: Marfan’s syndrome, prevalence, lceland, symptomatology Ágrip Marfans heilkenni er bandvefssjúkdómur sem erfist ókynbundið ríkjandi. Hann leggst aðallega á hjarta og æðakerfið, augun og stoð- kerfið. Úttekt á Marfans heilkenni hefur aldrei verið framkvæmd á Islandi. Tilgangur rann- sóknarinnar var að athuga algengi sjúkdómsins á Islandi og dreifingu sjúkdómseinkenna frá hjarta og æðakerfi, augum og stoðkerfi. Fjöl- skyldusaga hvers sjúklings var könnuð ítarlega og gaumgæft hvort ættartengsl kunni að vera til staðar milli fjölskyldna. Kannaðar voru sjúkra- skrár þeirra sjúklinga sem fengið höfðu grein- inguna Marfans heilkenni á árunum 1989-94 á Landspítala, Landakotsspítala, Borgarspítala og Fjórðungssjúkrahúsinu á Akureyri. Gögn voru fengin frá hjarta-, augn-, barna- og heim- ilislæknum. Sjúklingar með ófullnægjandi upp- lýsingar voru kallaðir inn og framkvæmd hjá þeim nákvæm augnskoðun og gerð ómskoðun af hjarta. Jafnframt var almenn líkamsskoðun gerð og ítarleg fjölskyldusaga tekin. Alls voru skoðaðir 22 einstaklingar á aldrin- um sjö til 71 árs. Þar af töldust 17 með öruggt Marfans heilkenni (meðalaldur 27 ár) en fimm með líkleg merki þess (meðalaldur 42 ár). Samkvæmt fyrri hópnum er algengi sjúkdóms- ins á íslandi 6,5 á 100.000 íbúa. Augneinkenni höfðu 14 (82%) og var hliðrun á augasteinum algengust, fannst hjá 11 einstaklingum (65%). Einkenni frá hjarta og æðakerfi höfðu 11 (65%), þar af níu einstaklingar (53%) með víkkun á ósæðarrótinni og sex (35%) með mít-

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