Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia

Volume 23, No. 5 (May 1992)

HUMAN PATHOLOGY

DISSECTING AORTIC ANEURYSM FIBROMUSCULAR DYSPLASIA ZOUAN

C;ATAI.ICA,

MD, ZENON

GIWS,

AS A COMPLICATION MD,

ANI)

ANTOFLIO

OF GENERALIZED

M.~UI.IS~.%-H~,KNANII)~.%.

MD

Thi.c is the ,jit:ct report of a dissecting wwu rysm of the aorta co ILFC~ by generalized 71~~~~211urfihrornU,sr~~la~-c!y.~pla~~i:ic~. An I N-year-old black mnn suddenly drvrloprd pampa resis and hihtrru 1 pulse 1o.1, below the waist. An nortogrum diJclosrr1 CLdi.csrcting oneu~sm o/ the entire uortcr nnd un otistruction of blood flow below the r&l c&rrir.~. On postmortem rxuminution. the dis.vvtion OJ the aorta UKL.T found to be due to fihromusculur dysplasin that a&-ted not only the aorta. but multiplr other nrter1e.r as well. ffl'M P.~IYKM. 133:58h588. Copyright 0 I VW by W.R. Saunders C:ompnrly

Normal

Fihrornuscular dysplasi;l (FMD) is ;I no~iathe~os~ler.c,ti~ and noninflamlnatoy wscular disease that primarily involves

mediumsized arteries, most commonly the renal and parotid arteries.’ In the study of Luscher et al.’ systemic disease involving two or more arteries was found in approximately one fourth of the patients with FMD. Histologically. FMD has been classified into three types’ (inrimal, medial, and periarterial FMD), depending on the arterial layer affected. Medial dissection is a common complication of medial FMD, presumably due Lo the weakening of the thinned areas of the involved arteries. This histologic classification of FMD has a good correlation with radiographic appearances and even with the response to therapy, at least in the patients with FMD of I-enal arteries treated by percutaneous transluminal angioplasty.’ The

From the Department of Pathology, Jeff’erson Medical (:ollegc, Thomas Jefferson University, Philadelphia, PA. Accepted for publication July 21. 1901, Addrcsr correspondence and reprinr requests to Zoran Gatalica. MD, Deparunent of Pathology, Jel?‘erson Medical College. Thomas Jefferson Univel-sity, Philadelphia, PA 19 107. Copyright 10 1992 by W.B. Saunders Company 0046-R

t 77/9?/2.?05-0018$5.00/0

586

FIGURE 1. Diagram of the patient. The brachiocephalic FMD (black); the abdominal iliacs are affected by medial teries are affected by mixed

location and type of FMD in this trunk is affected by pure intimal aorta, left subclavian artery, and FMD (gray); and the coronary arintimal and medial FMD.

CASE STUDIES ;I, )rt;I i:, I~.Lv;‘~\inrolved in FMI).‘.4-” We tlescrihr thy autopsk filldiiigs iii x1 1%year-old man with generali7rd FMD who tlt~~lc)!x~! ;kortic, ciissection. We believr thia ih the first dcsc.r-i!,tion of an aortic dissection c-onqAicating FRII).‘.’ (: 1st

Kt:!‘ol<

I

,111I H-~r~~u--ckl.wek!ev&q~ed black III;LI~ \\ith IIO rcle~:tnt rllrtlic;ll hist or-> sudclenly developed abdominal pin ;~nt! we& IICX, 01 both Iqp. His blooc! prrssure was I HO.‘HOmm Hg. hcxrt rat WAS I I.’ and regular-, and he hxl no pulses helo\+ tllr waist. ,411 aortogl-an1 shower! an aortic. dissection heginning ill thr ;M alclillg aorta ant! extending into the ahdonlinal. 1, twl-t c oili!)lc.tc. occlusion helow thr origin of the rtmil arterirs

FIGURE 2. Histologic appearances of flbromuslzular dysplasia in this patient. (Top) Coronary artery: intimat FMD consists of connective tissue (arrowhead) and muscle cells (arrow) arranged perpendicularly to the normal circular layer of the media. (MSA: lnaanification X10.) (BattomjAorta: medial FMD with d fibromuscular ridge protruding into the original lumen of the abdominal aorta (arrowhead). The dissected lumen is below (arrow). Similar ridges were found in the left subclavian artery and both common iliacs (not shown). (tiematoxylin-eosin stain: magnification *2.)

587

HUMAN PATHOLOGY

Volume 23, No. 5 (May 1992)

abdominal aorta was just above the thickeued. occluding aortic wall. In addition, th& aorta and left subclavian artery showed valve-like intimal ridges, while both COIIIIIIOII iliac arteries were almosr occluded with marked thickening of the wall. The patient had none of the stigmata of the Ma&n’s disease. Microscopic exa[iiination of slides stained with hrmatoxylin-eosin, Verhoelf elastic, and lrichrome. and a[rtihodies to muscle-specific actin (MSA) (Enzo Biochem, New York, NY) disclosed characteristics of hbromuscular dysplasia. These include proliferation of dense connective tissue and smooth muscle, found in the abdominal aorta. brachiocephalic trunk. left suhclavian, both common itiacs. and coronary arteries (Fig 1). However, not all the lesions had the same histologic appearance. Lesions found in the brachiocephalic trunk were exclusively intimal FMD, but those in coronary arteries were predominantly intimal with some medial FMD (Fig 2, top). Elastic tissue stairis were used to disCnguish between these two varieties,’ as in the former case the internal lamina was intact and tlie media and adventitia showed no changes (not shnm~. Lesions found in the abdominal aorta, left common subclavian artery, and in both co~~mm~ iliac arteries were exclusively medial FMD (Fig 2, bottom), with hoth proliferation of smooth muscle cells (immunohistochemical stain with MSA antihody) and scattered fihroblasts (MSA-negative cells) together with connective tissue. These areas alternated with areas of thinned arterial wall, which are presumed lo be areas where dissection takes place.’ Neither renal artery was involved in the disease process, and the lumina werr normal in size and shape. Cytogenetic- analysis of karyotype of cultured skin (abdomen) fibroblasts showed no abnormalities (46,XY).

involvenienl has been rcportett. 51ost imporlantty. disxt-c ting aneurysms of visceral arteries have heen described as a litrdisthrcarening complication of FMI)‘,“,‘“; howrvr~-. ruprurrtl secting a~leurysm of the aorta in the parirnt with FM11 has 1101 beer1 I-rcoidect. Moiwner, the prcsc7u.c of pure intimal, IIUI-C medial I:MD md mixed itltinl;lI x~tl medial I;MI) in the s;mie patirnt i5 uiiusual and suggesc5 that t hrsc are various basic typrs Irafher rhitn distinct entities, reflecting the xxiit pathologic pI-
no abnornlalirirs. of any heritable

Family

history

gave

no signs

of the

disease. In cone-lusion, this msc report shows th;ct ae~eml IIIOI~ phologic forms of FMD IIM~ aft‘ecc the same patient. Ic also shows that aortic dissection. a prrGously unreported complication of FMD. may develop without any other previous c linical signs to suggest the presence of this d&asr.

DISCUSSION The case presented here is an atypical example of fibromuscular dysplasia in that the patient was a relatively young man who had systemic FMD with no involvement of renal arteries. Although this disease has been described in both sexes and at all ages, it is most commonly associared with females of childbearing age and almost exclusively involves renal arteries.” Secondly, cases with involvemenr of multiple arteries have been described,‘,’ hut no case with such an extensive

GAUCHER’S

DISEASE

IN THE PRESENCE

DEBORAH E. S~:HOIW.LD, MD, C. RONALD

SCOTT,

OF NORMAL

GLUCOCEREBROSIDASE

MD,

LACE, MD, AND DONALD

JANICE

M.

We encountered an infant with clinical und histvpathologicj?atures of Gucher’,c disease (infantile, type 2) with norm& glucorerebrosidase (n-glucosyll-N-acylsphingosine glucohydrolase, E;.C. 3.2.1.45) activity. Biochemical analysis was performed on leukocytes, cultured

From the Departments of Pathology, Pediatrics, and Genetics, Children’s Hospital and Medical Center, Seattle, WA; the Department of Pathology, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA; and the Division of Neurology and the Child Development and Mental Retardation Center, University of Washington, Seattle, WA. Accepted for publication August 7. 1991. Kqv UY&S: Gaucher’s disease, biochemistry, SAP deficiency. Address correspondence and reprint requests to Deborah E. Schofield. MD. Department of Pathology. The Children’s Hospital, 300 Longwood Ave, Boston, MA 021 15. Copyright 0 1992 by W.B. Saunders Company 0046~8175,‘92,‘2305-0019$5.00/O

588

ACTIVITY F. FARREU, MD

skinjibroblasts, and liver. Normal (Avity of’~~lncocerebrosidu.repreviously has been reported in an older child with juvenile onxt (type 3) Guucheri disecrsp nnd attributed to (I deficienq ctfu sphingolipid activator protein. These rare cuses illustrate and exppnndour concept of Gaucher’s disease and may have both diagtlostic nnd theruprutic ;mplications. HUM PATHOL 23:58&5Y2. Copyright 0 1 YY2 by M: B. Saunders Compally

Metabolic disease in infants and children is usually defined by the documentation of an abnormality in enzyme activity and/or metabolite level. In the case of Gaucher’s disease, the defect is an inherited deficiency of glucocerebrosidase, and this loss of enzymatic activity results in the lysosomal accumulation of glucosylceramide and other lipids within reticuloendothelial cells.’ The tight microscopic and ultrastructural