Wegener granulomatosis (WG) is a rare disorder of unknown etiology, characterized by necrotizing granulomatous vasculitis. The condition begins in the mucus linings of the nose, throat, or lungs in the form of an inflamed mass. In its most severe form, the necrotizing granulomas affect the blood vessels in the respiratory tract and kidney, causing them to swell up. Other organs that may be affected include eyes, skin, and the joints. Initial symptoms include rhinorrhea, cough, hemoptysis, bloody sputum, saddle-nose deformity due to perforations in the cartilage of the nose, extreme cold sensitivity of the fingers and toes, fatigue, night sweats, malaise, anorexia, weight loss, wheezing, chest pain, and ocular symptoms, including tearing due to nasolacrimal duct obstruction, orbital inflammation, peripheral ulcerative keratitis, scleritis, uveitis, retinal vasculitis, and/or proptosis. Retinal complications appear later, and include retinal phlebitis, vascular occlusions, hemorrhages, acute stenosis, macular edema, and/or retinal pigmentary changes.
WG is much more commonly seen in Caucasians, and is twice as common in men as women. Although this condition can affect people at any age, it is most commonly seen to occur between the ages of 40 and 50. Diagnosis relies on results of blood and urine analysis. Urinalysis detects presence of blood and/or protein in the urine. The blood analysis aims to detect anemia, and more importantly, the presence of anti-neutrophil cytoplasmic antibodies in a cytoplasmic pattern (c-ANCA), which is highly specific of this condition. In addition, biopsy of the affected tissue also aids in the diagnosis. Differential diagnoses to be considered include polyarteritis nodosa, lupus, lymphoma, and kidney disease. Three decades ago, WG used to be considered a fatal disease. However, with recent advances in medication, this disease can be managed by immunosuppressive drugs, and corticosteroids. In severe cases of the disease where the kidney is compromised, transplantation may be required.
Jamal et al. (1998) reported the first diagnosed case of Wegener's granulomatosis in Bahrain. The patient presented with epistaxis. Clinical features, the very high ESR, the operative, histopathological and the radiological findings, and a high index of suspicion confirmed the diagnosis along with the appropriate immunological test (positive cANCA). Standard treatment with cytotoxic agents and corticosteroids has been used. On follow-up the patient has shown a progressive improvement in her clinical and laboratory parameters.
Thomas et al. (2005) described a 33-year old Kuwaiti male with Wegener's granulomatosis. The patient presented with skin lesions of 2-weeks duration on both legs. He had earlier met with an accident which had left him with dysarthria and quadriparesis. Examination revealed palpable purpuric eruptions on both legs. He developed cough with hemoptysis, shortness of breath and knee pain. Chest examination revealed scattered ronchi which progressed to generalized diminished air entry. The patient was suspected to have pulmonary embolism and heart failure. However, normal results on pulmonary V/Q scan and echocardiogram rejected this view. Skin biopsy from the lesions showed thickening and fibrin deposition in the walls of the small vessels, with evidence of leukocytoclastic vasculitis. Together with a high ESR count and serum levels of C-ANCA, the results suggested a diagnosis of C-ANCA positive vasculitis. Absence of bronchospasm, granulomas, and renal involvement excluded the possibility of Churg-Strauss vasculitis and microscopic polyangitis, leaving a diagnosis of Wegener's granulomatosis. Lung biopsy could not be performed on the patient. He was treated with a pulse therapy of methyl prednisolone, followed by oral prednisolone and cyclophosphamide. The patient improved remarkably, with his cough subsiding and lowering of his ESR and C-ANCA levels. Hemoptysis did not recur, and repeat X-ray showed resolution.
[Thomas TVT, Behbehani N, Hussein AAA. Wegener's granulomatosis: a case report. Kuwait Med J. 2005; 37(4):301-3.]
Shenoy et al. (2002) reported a limited form of Wegener's granulomatosis in a 13-year old girl who presented with sudden loss of vision in her left eye. Other symptoms were generalized weakness, weight loss and alopecia. Clinically, she had discrete non tender cervical and axillary lymphadenopathy and mild hepatosplenomegaly. Ophthalmologic examination revealed the left eye's corrected visual acuity was only counting fingers close to the face, with semi-dilated left pupil, which reacted sluggishly to light, and it was not possible to trace the visual field of the left eye. The left fundus showed a pale optic disc, and multiple occlusions in the superior and inferior temporal arterioles, with retinal ischemia, superficial hemorrhages, and soft exudates along with telengiectatic changes and no ocular or orbital involvement. These findings were confirmed by fundus Fluorescein angiogram. The right eye was normal with normal intraocular pressure in both eyes. Investigations revealed normochromic normocytic anemia with normal leukocyte and platelet counts, raised erythrocyte sedimentation rate of 65mm/1st hr, negative serology for TORCH and HIV, and normal hepatic and renal functions. Immunological investigations revealed strongly positive antineutrophil cytoplasmic antibodies (cANCA) in a titre of > 1:640. Other tests, including compliment levels, rheumatoid factor, antinuclear antibodies, anticardiolipin antibodies, lupus anticoagulant, antistreptolysin O, 24hr urine protein, serum immunoglobulin levels except for raised IgG and IgE, were normal. Radiological investigations were normal, and included chest X-ray, ultrasound abdomen (except for mild hepatosplenomegaly), and normal CT orbits. The diagnosis of Limited Wegener's Granulomatosis was made due to the retinal findings, high cANCA titres with the absence of pulmonary and renal involvement, and after the exclusion of other causes of retinal vascular occlusions. She was managed with monthly intravenous methylprednisolone and cyclophosphamide. The response was visible, both clinically (with weight gain, regression of the lymphadenopathy and hepatosplenomegaly, and regrowth of her hair), and serologically (cANCA was negative within three months after treatment). However, her vision remained poor due to the optic atrophy. She was followed up for two years with no clinical activity or progression of the eye lesions but fibrotic changes along the temporal retinal vessels were noticed (suggesting local regression).