Læknablaðið - 15.08.1996, Page 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-