Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039483 (giant cell arteritis)
 3,204 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Whipple's disease is a rare disease with protean clinical manifestations, often mimicking those of other pathological conditions. We describe two new cases, one admitted to hospital only after Giardia lamblia infestation had drawn attention to gut symptoms, and the other who was treated for a long time with steroids for suspected Horton's arteritis. Once again, we stress the importance of bearing this polymorph disease in mind, especially in older people.
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PMID:Whipple's disease: a continuous challenge. 753

This survey deals with the main clinical aspects at the diagnosis and during the follow-up of thirty consecutive patients with giant-cell arteritis (temporal arteritis and rheumatic polymyalgia), controlled over a period of 15 years. The work aimed at verifying the diagnostic accuracy with regard to a more underestimated than rare disease. We believe that such a consideration is a useful introduction to a wider research into the epidemiological and biological aspects of the disease which are still to be determined.
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PMID:[Giant-cell arteritis. Comments on the case histories of 30 patients]. 763 33

Peri-aortitis retroperitoneal fibrosis is characterized by a reaction of a variable inflammatory nature while constricting the organs crossing the retroperitoneal space, notably the ureters and the blood vessels. It is difficult to diagnose such a rare disease. We bring about here six cases of periaortic retroperitoneal fibrosis diagnosed from systemic, digestive, urinary or vascular signs. Early diagnosis is often difficult and is shown to be established after an average of three months investigation. The average age of these patients, all of the male sex, is 58 years old (54 to 90). In the six cases this disease appears to be idiopathic even though in two cases it is associated to giant temporal arteritis and polymyalgia rheumatica. TDM remains the best diagnostic tool to point out the existence of this fibrosis, to observe its evolution and to investigate for any extension of the disease. The etiology of this fibrosis remains a mysterious one; however an immunologic origin has been suggested. Medical treatment by corticosteroids is often successful but the long term evolution of the disease is still uncertain.
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PMID:[Idiopathic periaortic fibrosis: a difficult diagnosis in internal medicine]. 785 74

Giant cell arteritis (GCA) was considered a rare disease 50 years ago; however, it is now known to be an important and significant cause of morbidity and mortality in elderly people. GCA is a generalised arteritis, although the aetiology and pathogenesis of this disorder are poorly understood. It is likely that there are environmental or genetic factors that significantly influence the risk for the disease in different populations. Epidemiological studies have shown the highest incidence in Northern Europe and in Minnesota, US; which are populations of the same descent. Much lower incidence figures have been reported from more Southern regions of Europe and elsewhere. Possibly, the incidence of the disease is increasing as suggested by recent surveys. Glucocorticosteroids are the drugs of choice in all clinical types of GCA. Most studies have been performed with prednisolone. There is no general agreement concerning the initial dosage, but 10 to 40 mg/day is commonly recommended. After a few months the majority of patients can be treated with a low maintenance dosage of prednisolone 5 to 7.5 mg/day. Because of the low dosage required, the frequency of corticosteroid-related adverse effects is relatively low. The median duration of treatment is about 5 years. Nonsteroidal anti-inflammatory drugs, in contrast to corticosteroids, have no proven preventive effect on vascular complications of GCA, and cannot be recommended.
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PMID:Giant cell arteritis. Epidemiology and treatment. 818 41

Amyloidosis is a rare disease in which a fibrillar protein is deposited in multiple human tissues. Of the 4 subtypes, the most common type involving rheumatic disease features is hemodialysis-associated amyloidosis. Herein we describe an elderly man who presented with symptoms of giant cell arteritis or systemic vasculitis and was found to have amyloidosis as demonstrated on muscle, nerve, and temporal artery biopsy.
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PMID:Primary systemic amyloidosis masquerading as giant cell arteritis. Case report and review of the literature. 845 87

Whereas giant cell arteritis (GCA) was considered a rare disease 50 years ago, the generalized arteritis is now recognized as an important and significant cause of morbidity in elderly people; its cause and pathogenesis is poorly understood. Glucocorticosteroids are the drug of choice in all clinical types of GCA. In contrast to corticosteroids, nonsteroidal anti-inflammatory drugs have no proven effect on vascular complications to GCA, and cannot be recommended.
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PMID:Giant cell arteritis. 859 34

Giant cell arteritis (GCA) is a spontaneous vasculitic syndrome specifically involving the walls of medium and large arteries. While involvement of other arterial beds is occasionally identified, this syndrome is most frequently recognized when symptomatic involvement of the temporal arteries occurs. Vascular lesions are characterized by patchy granulomatous infiltrates composed of T cells, macrophages, histiocytes, and giant cells. A better prognosis depends on early recognition of the clinical symptoms and prompt treatment. Diagnosis was based on the 5 clinical criteria previously used by the American College of Rheumatology (1990): 1) age 50 years or older; 2) new localized headache; 3) temporal artery tenderness or decrease in temporal artery pulse; 4) erythrocyte sedimentation over 50 mm/ hour; 5) abnormal result on artery biopsy. Giant cell arteritis was considered a rare disease under age 50; however, it is now known to be an important and significant cause of morbidity and mortality in elderly people. Therefore early recognition and treatment with corticosteroid are very important. There is no general agreement concerning the initial dosage, 40-65 mg/day are commonly recommended. After a few months the majority of patients can be treated with a low maintenance dosage of prednisolone (5 to 7.5 mg/day). The mean duration of treatment is about 5 years. The literature is reviewed and the clinical implications of this disease are discussed.
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PMID:[Horton's giant cell arteritis]. 928 Aug 67

OBJECTIVES: The authors described a case of Riedel's thyroiditis, a relatively rare disease affecting the thyroid gland. RESULTS: A 38-year-old female was diagnosed with Riedel's thyroiditis by a frozen section examination during attempted surgery for the suspicion of malignancy. The histopathologic examination confirmed the diagnosis of Riedel's thyroiditis combined with signs of giant cell arteritis. After hemithyroidectomy, the patient had paresis of the recurrent laryngeal nerve for five days and signs of hypothyroidism and hypoparathyroidism for three months after surgery. The level of thyroid peroxidase antibodies titer was higher. The patient had no compression symptoms, no signs of systemic immunopathology, and no signs of extracervical fibrosis. She was put on prednison 5 mg daily. CONCLUSIONS: Riedel's thyroiditis can be looked upon as a cervical fibrosis of unknown etiology affecting the thyroid. In our case it was combined with signs of giant cell arteritis.
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PMID:CASE REPORT: Invasive fibrous thyroiditis (Riedel's disease) with signs of giant cell arteritis. 1145 35

Progressive degenerative changes in ageing temporal arteries are described. These changes are usually severe in elderly patients, hence their presence in diagnostic biopsies provides no evidence of temporal arteritis past or present. In two patients in the series of random necropsies examined there were changes in the temporal arteries identical with those seen in patients known to have suffered from temporal arteritis in the past; in both these cases there was, in addition a giant cell aortitis. The distinction between healed arteritis and degenerative changes due to age in a single biopsy specimen may be difficult. Furthermore, it is possible that steroid treatment may arrest the progress of the disease so that gross intimal thickening and vascularization of the artery wall do not occur. Giant cell arteritis is not a rare disease. Two examples were discovered in 39 random necropsies on patients over 60 years of age.
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PMID:Pathological changes in temporal arteries removed from unselected cadavers. 1368 18

Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the virtual absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is transmitted by an X-linked recessive gene or rarely an autosomal recessive gene. Therefore it is only males who fully express the condition. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Typically there is frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmentation, and absence of teeth. Those affected show great intolerance to heat. In the current absence of effective treatment for many hereditary skin diseases, comprehensive, accurate prenatal or postnatal genetic counseling can provide information to parents at risk of having affected children. We report HED in a 6-year-old boy with an Ala349Thr (GCA --> ACA) missense mutation developed de novo. Both parents and a 16-week gestational age fetus were healthy. We thought direct sequencing analysis for the ED1 gene using peripheral blood or amniotic fluid was preferable for an accurate diagnosis of this disease, although there was some risk of not detecting the mutation. After the results of this study were communicated to the parents, the mother was freed of her guilty feelings of the past 6 years and has now delivered a healthy male infant.
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PMID:Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo. 1546 65


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