Primary localised amyloidosis of the vagina

Abstract

Amyloidosis is not a single disease, but a term for diseases that share a common feature: the extracellular deposition of pathological insoluble fibrillar proteins in organs and tissues.1 The proteins are made up of two main components: a fibril protein component and a glycoprotein component called the P component.2 Amyloidosis can be classified either on the basis of the unique fibril protein component, or by separating those forms resulting in localised disease from those causing systemic disease. The classification based on the localisation of the disease is more useful for the clinical practice.1 Localised amyloidosis occurs when protein deposition is confined to a single organ or site. Typically, it is associated with an underlying inflammatory or neoplastic process, but occasionally it occurs as a primary, idiopathic disease. Systemic amyloidosis typically can affect practically every organ. Cases involving the reproductive tract are rare. Only 12 cases of cervical amyloid,3–7 four cases of uterine amyloid and one case of systemic amyloidosis with endometrial involvement are reported in the literature.8 Here we present the first to our knowledge case with primary amyloidosis of the vagina. A 73-year-old multiparous postmenopausal woman presented with a history of urine retention. The patient's medical history is significant for pulmonary tuberculosis and pulmonary lipoproteinosis. The gynaecological exam revealed two submucous vaginal formations located symmetrically at 3–4 cm inside from the vaginal orifice. The right-hand formation was 4–5 cm, and the left-hand one approximately 3 cm. Both had firm and elastic consistency. There were no pathological changes in the uterus or adnexa, which were normally sized in relation to age. Cystoscopy did not detect any pathology except external compressure on the bladder neck. The X-ray examination of the pelvis did not find pathological changes. Transvaginal echography established the presence of two 3- to 4-cm-sized hyperechogenic paravaginal formations with normal blood flow measured by Doppler velocimetry. A complete blood count revealed a slightly elevated platelet count – 450 000/mm3. Needle biopsy was unsuccessful because of the tumour's solid structure. Both formations were removed vaginally during general anaesthesia. The extracted tumours had solid consistency, and were yellow in colour. The postoperative course was uncomplicated. Six months after surgery the patient has no complaints or difficulties with urination. Histological examination after Congo red stain revealed a large eosinophilic deposit showing green birefringence under polarized light (Fig. 1). Massive interstitial (black arrow) and perivascular (white arrow) amyloid deposits. Congo red, original magnification ×200. Immunohistochemical examination showed marked positive reaction for AA-amyloid. The ultrastructural study showed chaotic interlaced fibrils (Fig. 2). Electron micrograph depicted chaotic interlacing amyloid fibrils. Original magnification ×18 000. This is the first case of amyloidosis of the vagina. The reason for this statement is our search carried out in MEDLINE, based on the following Medical Subject Headings (MeSH): ‘amyloidosis’ and ‘vagina’ or ‘female genitalia’. No results were obtained. Localised disease occurs when the amyloid deposition is confined to a single organ. In our case one can assume systemic disease having in mind the existence of a chronic inflammatory condition – pulmonary tuberculosis. The search for amyloid in other organs was negative. Common manifestation of systemic amyloidosis includes congestive heart failure, nephrotic syndrome, hepatomegaly and macroglossia1,2– all absent in our patient. The diagnosis of amyloidosis is made histologically.2 Common to all forms is the light microscopic appearance of waxy, amorphous material with typical green birefringence under polarized light after staining with Congo red.9 After a positive result is obtained, the type of amyloidosis must be determined. The three most common forms of amyloidosis – namely AL, ATTR and amyloid protein A (AA) differ entirely in their pathogenesis.1 In our case immunohistochemical stains showed the amyloid to be composed of amyloid-associated protein, a protein produced in chronic inflammatory conditions. Clinical presentation depends on the distribution and the amount of amyloid deposited, but symptoms may be protean and generally, non-specific.9 The patient must be tested for possible underlying causes such as multiple myeloma and other immunocyte dyscrasias, as well as the presence of amyloid in other organs. Currently, there is no effective treatment for prevention of fibrillogenesis or mobilisation of established amyloid deposits.1 Logically, the treatment is primarily aimed at the underlying predisposing condition to prevent overproduction of the precursor proteins or subsequent tissue deposition.2,4 The prognosis of the amyloidosis depends on the type of disease. For patients with AA type it is often affected mostly by the underlying chronic disease.1 In our case we prove that amyloid deposits in the vaginal wall, though rarely, can be found and could be a signal for seeking a possible systemic cause for amyloidosis.