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Show I. Clin. Neuro-ophthalmol. 5: 244-248, 1985 Familial Temporal Arteritis MYRON TANENBAUM, M.D. JACK TENZEL, M.D. ~ 1985 Raven Press, New York The familial occurrence of temporal arteritis is uncommon but has been reported. I - 6 In these reports, the clinical diagnoses of temporal arteritis or polymyalgia rheumatica have been made without histologic proof. To the best of our knowledge, this is the first report in the ophthalmic literature of biopsy-proven temporal arteritis occurring in two siblings. Case 1 A 68-year-old white female of Cuban-American heritage was well until April 24, 1971, when she experienced right facial pain, headaches, and pain on chewing and swallowing. That day, a physician initiated treatment with prednisone, 15 mg orally b.Ld., which provided some symptomatic relief. Two days later, she acutely lost vision in her right eye, and on April 28th was referred to the Bascom Palmer Eye Institute. The patient was a thin, healthy-appearing white woman. Blood pressure was 150/ 100 and pulse was 80 and regular. Visual acuity in the right eye was 1/200, with a dense superior altitudinal visual field defect. Visual acuity in the left eye was 20/20. Palpation of the right temporal revealed a hard, pulseless vessel. Extraocular movements were full. Slit-lamp examination was normal. Applanation tension in the right eye was 17, in the left eye 16. The right fundus showed marked disc swelling, with cotton wool patches and flame-shaped hemorrhages. The left optic nerve appeared normal, with one cotton wool patch noted inferotemporal to the disc. Westergren erythrocyte sedimentation rate (ESR) was 56 mmlh. Complete blood count showed hemoglobin 14.5 g %, hematocrit 42%, white blood cell count 11,400/",,1. Treatment was started with prednisone, 20 mg orally q6h. A temporal artery biopsy performed on April 29, 1971 was positive for temporal arteritis (Fig. 1). The patient remained stable on steroid treatment tapered over several months, but without visual improvement in the right eye. From the Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL, U.S.A. Write for reprints to: M. Tanenbaum, M.D., 2380 E Dunwoody Crossing, Atlanta, GA 30338, U.S.A. 244 Case 2 On December 23, 1984, an 80-year-old white female presented to the Bascom Palmer Eye Institute with a 3-day history of diffuse headaches, facial pain, and ear pain. Benadryl (diphenhydramine) and aspirin partially relieved these symptoms. Two days prior to admission she lost all sight in her left eye, and by the day of admission visual acuity had also decreased in her right eye. In 1983 visual acuity had been W/ 60 in the right eye and 20/30 in the left eye, consistent with noted nuclear sclerotic cataracts. Family history was significant for temporal arteritis in the patient's older sister, who was diagnosed and treated at the same institution 13 years earlier (case 1). On presentation the patient was obviously distressed. Blood pressure was 160/80, pulse was 90 and regular, and she was afebrile. Visual acuity in the right eye was 20/100 with a dense, inferior altitudinal defect; the left eye was without light perception. Motility was full. The right superficial temporal artery pulse was intact. The left temporal artery was pulseless but nontender. Slit-lamp examination showed early nuclear sclerotic changes bilaterally. Applanation tension was 8 in the right eye, and 6 in the left eye. Fundus examination showed mild disc swelling in the right eye and a floridly swollen left optic nerve with flame-shaped hemorrhages. Initial Westergren ESR was 62 mmIh. The patient was admitted and received methylprednisolone (Solumedrol), 500 mg intravenously q6h for three doses. A repeat Westergren ESR was 118 mm/h. On December 25, 1984, a biopsy of the left temporal artery showed granulomatous inflammation (Fig. 2). Intravenous doses were tapered to oral predniso~ e, 100 mg/day, and the Westergren ESR remamed at 100 mmIh during this time. Visual aCUity. was li~ht perception in the left eye and 20/8~ 1": the. nght eye, with the patient noting a subJectlve improvement. On December 29th, ~e patient's course was complicated by a massIve .Ieft cer~bral vascular accident. The patient surVIVed thiS event and recovered limited am~ ulatory function. Follow-up ocular examina~ on on May 1, 1985 revealed visual acuity in the nght eye of 20/100 and no light perception in the left eye. Journal of Clinical Neuro-ophthalmo1oB1 Tanenbaum, Tenzel FiSUft 1. Positive tempora.l artery biopsy specimen with marked narrowing of the artery lumen and inflammation throughout the vessel wall. Discussion The etiology of temporal arteritis is unknown. Genetic, environmental, and immunological influences have been cited as possible pathogenic factors in this disease. In this report, we focus on the familial occurrence of temporal arteritis. The total reported cases of familial temporal arteritis in the literature, including the cases presented here, is 35 patients in 16 families (fable 1). A review of the Iiteraturel - 9 revealed the following relationships in families with temporal arteritis and polymyalgia rheumatica: nine sister-sister pairs, three sister- brother pairs, two mother-daughter pairs, one fatherdaughter pair, and three husband-wife pairs. One of the reported pairs of sisters involved monozygotic twins. 7 One of the sister "pairs" actually involved three affected sisters within a family with five affected persons.6 liang et aI. 1 in 1974 reported four pairs and reviewed work done at several other centers. They noted that 20 cases (10 pairs) were found among a total pool of less than 500 patients followed at these centers. Thus, one in 25 patients reported had an affected first-degree relative. December 1985 However, in large population surveys of persons 50 years or older, the prevalence of temporal arteritis is between 24 and 133 cases per 100,000. 10•11 The prevalence rates reveal an increase with advancing age. Assuming that each patient has four first-degree relatives, and assuming a prevalence of polymyalgia rheumatica/ temporal arteritis of 1001100,000, the likelihood by chance that a patient will have an affected first-degree relative is only 1 in 250. While this estimate has many statistical flaws, it is strikingly different from the 1 in 25 figure calculated by liang et aL I A specific inheritance pattern in temporal arteritis or polymyalgia rheumatica is not known at present. HLA tissue typing is inconclusive .12-16 The best evidence of a genetic pathogenesis is the higher incidence in women, the racial distribution (rare in black Americans), 17 and in these case reports of familial occurrence. Kvernebo's report of five cases within a single family, though equivocal, suggests a genetic predisposition of temporal arteritis to environmental influences. The time interval between the onset of symptoms among the first-degree relative pairs 245 (b) Familial Temporal Arteritis Figure 2. (a) Temporal artery biopsy specimen showing arteritis with scattered giant cells. (b) Higher magnification demonstrates granulomatous inflammation and multinucleated giant cells. (sister-sister, sister-brother, mother-daughter, or father-daughter) ranged from 3 months to 28 years. The time interval range among affected husband-wife pairs was 8 months to 8 years. The significance of these broad time intervals is not known at present. 246 As detailed in Table 1, the majority of cases in the literature involved negative temporal artery biopsies, no temporal artery biopsy, or a clinical diagnosis of polymyalgia rheumatica. Excluding Kvemebo's report (equivocal biopsy results),6 only 5 of 15 pairs had positive biopsies Journal of Clinical Neuro-ophthalmology Tanenbaum, Tenzel rl-aLE 1. SWIUIW')' of Reported Occurrence of Familial Temporal Arteritis Interval Between Onset of Symptoms Age in Familial ESR Temporal Artery Relation (Yr) Pairs (mmlh) Biopsy Clinical Diagnosis Daughter 59 5 mo 59 ( +) Temporal arteritis Temporal arteritis I Mother 72 63 Negative Temporal arteritis Sister 65 14 mo 64 ( + ) Temporal arteritis Temporal arteritis, polymyalgia rheumatica l Sister 70 100 (+) Temporal arteritis Temporal arteritis, polymyalgia rheumatica Mother 84 11 mo 104 Negative Temporal arteritis, polymyalgia rheumatica1 Daughter 60 no Not done Polymyalgia rheumatica Sisler 65 4 yr 110 Negative Polymyalgia rheumatica1 Sister 66 72 Not done Polymyalgia rheumatica Father 73 28 yr Not done "Arteritis" (autopsy) Unknown "arteritis" Daughter 78 49 (+) Temporal arteritis Temporal arteritis, polymyalgia rheumatica2 Sisler 65 5 yr 45 Not done Polymyalgia rheumatica3 Sisler 66 75 Not done Polymyalgia rheumatica Sister 70 13mo 127 (+) Temporal arteritis Temporal arteritis· Sisler 69 47 (+ ) Temporal arteritis Temporal arteritis Sisler 58 Temporal arteritis· Sister 54 Temporal arteritis Sister 74 Temporal arteritis· Sister 67 Temporal arteritis Sister 70 Temporal arteritis· Brother 70 Temporal arteritis Sisler 70 3mo 91 Not reported Temporal arteritis5 Brother 73 129 Not reported Temporal arteritis Husband 68 6yr 60 (+) Temporal arteritis Temporal arteritis6 Sister of wife 71 4 mo 125 ( +) "Vasculitis" Temporal arteritis, polymyalgia rheumatica Wife 70 4 mo 133 (+) "Intimal changes Temporal arteritis. Consistent w/ended polymyalgia rheumatica arteritis" Sister of wife 77 4 mo 113/137 ( +) "Intimal thickening Temporal arteritis, and vasculitis" polymyalgia rheumatica Brother of wife 78 64 Negative Questionable polymyalgia rheumatica Sister 72 5yr 56 ( + ) Temporal arteritis Temporal arteritis7 Sister (monozygotic 77 38 ( + ) Temporal arteritis Temporal arteritis twins) Wife 74 8 yr 92 Not done Temporal arteritis. polymyalgia rheumatica8 Husband 78 119 (+ ) Temporal arteritis Temporal arteritis, polymyalgia rheumatica Wife 76 8mo 98/110 Negative Polymyalgia rheumatica9 Husband 78 95/120 (+) Temporal arteritis Temporal arteritis Sister 68 13 yr 56 (+) Temporal arteritis Temporal arteritis· Sister 80 62/118 ( + ) Temporal arteritis Temporal a.rteritis Numbets following the clinical diagnosis indicate the source of data. • Present report. December 1985 247 Familial Temporal Arteritis in both members of the pair. In Wadman and Werner's series of 53 patients with temporal arteritis, including one reported sister-brother pair, 48 were biopsy-proven cases. 5 Five patients refused biopsy. This report, however, does not specify if the affected sister-brother pair were among the biopsy-proven cases. Despite these limitations, interesting calculations regarding the prevalence of familial temporal arteritis can be made. In summary, we document the occurrence of temporal arteritis in two sisters and reemphasize the possibility of familial occurrence of this disease to ophthalmologists and other physicians caring for these patients. If the incidence of temporal arteritis or polymyalgia rheumatica is 10 times as common in family members as in the general population, this is important information to take in a history for patients with these diagnoses. Furthermore, since many patients with suspected temporal arteritis may not have had histologic verification of the disease, the patient should be asked not only about temporal arteritis by name in family members, but also about relatives who had the sudden appearance late in life of severe headaches, malaise, weight loss, jaw claudication, polymyalgia, cerebrovascular accidents, or blindness. References 1. Liang, G. c., Simkin, P. A., Hunder, G. G., et aI.: Familial aggregation of polymyalgia rheumatica and giant cell arteritis. Arthritis Rheum. 17: 19-24, 1974. 2. Granato, J. E., Abben, R. P., and May, W. S.: Familial association of giant cell arteritis. A case report and brief review. Arch. Intern. Med. 141: 115117, 1980. 3. Barber, H. S.: Myalgic syndrome with constitutional effects: Polymyalgia rheumatica. Ann. Rheum. Dis. 16: 230-237, 1957. 4. Hamrim, B.: Polymyalgia arteritica. Acta. Med. Samd. (Suppl.) 533: 62-65, 1972. 248 5. Wadman, B., and Werner, I.: Observations on temporal arteritis. Acta. Med. Scand. 192: 377- 383, 1972. _ 6. Kvernebo, K., and Brath, H. K.: Polymyalgia arteritica. A report on five cases within a family. Scand. f. Rheumatol. 9: 187-189, 1980. 7. Kemp, A.: Monozygotic twins with temporal arteritia and ophthalmic arteritis. Acta. OphthalmoI. 55: 183-189, 1977. 8. Hickstein, D. D., Gravelyn, T. R., and Wharton, M.: Giant cell arteritis and polymyalgia rheumatica in a conjugal pair. Arthritis Rheum. 24: 1448-1450, 1981. 9. Garfinkel, D., Bograd, H., Salamon, F., et al.: Polymyalgia rheumatica and temporal arteritis in a married couple. Am. f. Med. Sci. 287: 48-49, 1984. 10. Hauser, W. A., Ferguson, R. H., Holley, K. E., and Kirland, L. T.: Temporal arteritis in Rochester, Minnesota, 1951-1967. MJzyo Clin. Proc. 46: 597-602, 1971. 11. Huston, K. A., Hunder, G. G., Lie, J. T., et al.: Temporal arteritis: A 25-year epidemiologic, clinical and pathologic study. Ann. Intern. Med. 88: 162-167, 1978. 12. Ladas, I. D.: Histocompatability antigens and eye diseases other than uveitis. Surv. Ophthalmol. 27: 233-244, 1983. 13. Rosenthal, M., Muller, W., and Albert, E. D.: HLA antigens in polymyalgia rheumatica. N. Engl. f. Med. 292: 595, 1975. 14. Hazelman, B., Goldstone, A., and Voak, D.: Association of polymyalgia rheumatica and giant cell arteritis with HLA-B8. Br. Med. f. 2: 989-991, 1977. 15. Seignalet, B., Jonsbor, c., Sany, J., et aI.: HLA in temporal arteritis. Tissue Antigens 9: 69, 1976. 16. Hunder, G. G., Taswell, H. F., and Pineda, A. A.: HLA antigens in patients with giant cell arteritis and polymyalgia rheumatica. J. Rheumatol. 4: 321-323, 1977. 17. Bell, W. R., and Kleinfelter, H. E.: Polymyalgia rheumatica. Johns Hopkins Med. J. Ul: 175-187, 1967. Journal of Clinical Neuro-ophthalmology |
