|Year : 2019 | Volume
| Issue : 2 | Page : 97-100
Ocular manifestations of myeloma with coexistent autosomal dominant polycystic kidney disease in a young female
Vivek S Guleria, Mukesh Dhillon, Bhupesh Guleria, Velu Nair
Department of Internal Medicine, Armed Forces Medical College, Pune, Maharashtra, India
|Date of Submission||12-Jul-2013|
|Date of Decision||29-Mar-2016|
|Date of Acceptance||18-Jan-2017|
|Date of Web Publication||11-Feb-2020|
Vivek S Guleria
Department of Internal Medicine, Armed Forces Medical College, Pune - 411 040, Maharashtra
Source of Support: None, Conflict of Interest: None
Multiple myeloma is a clonal B-cell disease of proliferating plasma cells that rarely involves the eye. On the contrary, renal involvement is frequently seen in myeloma. At the time of diagnosis, about 30%–40% of patients with myeloma have evidence of renal impairment. There are multifactorial causes of renal impairment in multiple myeloma; however, coexistent autosomal dominant polycystic kidney disease (ADPKD) in a patient with myeloma has not been reported. We report a case of a 34-year-old female who presented with severe anemia, cataract right eye, bilateral corneal opacities, and multiple cysts in kidney and liver. She was eventually diagnosed as a case of multiple myeloma associated with ADPKD.
Keywords: Autosomal dominant polycystic kidney disease, multiple myeloma, ocular manifestations
|How to cite this article:|
Guleria VS, Dhillon M, Guleria B, Nair V. Ocular manifestations of myeloma with coexistent autosomal dominant polycystic kidney disease in a young female. J Med Soc 2019;33:97-100
|How to cite this URL:|
Guleria VS, Dhillon M, Guleria B, Nair V. Ocular manifestations of myeloma with coexistent autosomal dominant polycystic kidney disease in a young female. J Med Soc [serial online] 2019 [cited 2020 Aug 8];33:97-100. Available from: http://www.jmedsoc.org/text.asp?2019/33/2/97/278109
| Introduction|| |
Multiple myeloma is the second most common hematologic cancer. It is characterized by the clonal proliferation of malignant plasma cells in the bone marrow, monoclonal protein in the blood or urine, and associated organ dysfunction. It usually affects elderly people, and the median age at diagnosis is 70 years, with only 3.8% of patients younger than 45 years. Myeloma-related organ or tissue damage can be assessed by hypercalcemia, renal insufficiency, anemia, and/or lytic bone disease.
Ophthalmologic manifestations in patients with myeloma though rare can be seen in every ocular structure. Most of these manifestations (66%) are related to vascular lesions in the retina. Involvement of ciliary epithelium cysts and cornea is less frequent.
Ocular findings may be the first manifestation of the disease or they may occur as one of the extramedullary manifestations of the disease. Multiple myeloma involves eye by:
- Direct infiltration
- As extramedullary plasmacytomas
- Hyperviscosity syndrome
- And by immunoglobulin light chain deposition in ocular tissues.
We present a case of a young female who presented with severe anemia, cataract right eye, bilateral corneal opacities, and multiple cysts in kidney and liver. She was eventually diagnosed as a case of multiple myeloma associated with autosomal dominant polycystic kidney disease (ADPKD).
| Case Report|| |
A 34-year-old female presented with dyspnea on exertion, easy fatigability, and generalized bodyaches in December 2012. She gave a history of menorrhagia for 1 month. On examination, she had a pulse of 108/min and blood pressure of 110/76 mmHg. She was pale and had bilateral corneal opacities with cataract right eye [Figure 1] and [Figure 2]. Fundus examination revealed retinopathy of the left eye [Figure 3]. Sternal tenderness was present. Systematic examination was unremarkable [Table 1].
Peripheral blood smear showed severe dimorphic anemia with increased Rouleaux formation and autoagglutination, HIV/hepatitis B surface antigen/anti-hepatitis C virus-negative, urine microscopic examination was normal, urine for Bence-Jones protein was negative, corrected calcium was 11.9 mg/dL, 24 h urine protein was 155 mg/dL, antinuclear antibodies were negative, chest X-ray was normal, and skeletal survey showed no bony lyric lesions.
Vitamin B12 levels were 844 pg/ml, serum iron was 48 μg/dL (80–175), % saturation was 12.0%, and serum ferritin was 58.77 μg/ml (10–124).
Bone marrow aspiration and biopsy showed 80% plasma cells with few binucleate plasma cells with prominent nucleoli [Figure 4]. CD 138 was positive. Serum protein electrophoresis revealed M band (7.8 gm/dL) with immunofluorescence showing monoclonal lgG kappa chain. Hemoglobin electrophoresis was normal.
Ultrasonography showed right kidney of 11.7 cm and left kidney of 12.2 cm, both kidneys were replaced by variable-sized cysts with loss of corticomedullary differentiation and increased cortical echogenicity [Figure 5]. Diethylenetriaminepentaacetic acid scan revealed compromised renal function showing a total glomerular filtration rate (GFR) of 59.6 ml/min (left kidney GFR of 29.1 ml/min and right kidney GFR of 30.5 ml/min). On ultrasonography, two well-defined cysts were seen in segment IVa, III d liver.
She was diagnosed as a case of multiple myeloma with ocular manifestations in the form of cataract, corneal deposits, retinopathy, and chronic kidney disease (stage III) with ADPKD.
Induction therapy in the form of thalidomide, dexamethasone, and bortezomib was started, along with blood component support, zoledronic acid, and granulocyte-colony-stimulating factor. She also underwent right eye cataract surgery after which her vision improved. Her hemoglobin has increased to 8 gm/dl and plasma cells have decreased to 10%, however she persists to have M-protein in serum. At present, she is undergoing her sixth induction cycle.
| Discussion|| |
Ophthalmologic manifestations of myeloma though rare can be seen in every ocular structure. Ophthalmic manifestations of multiple myeloma include proptosis, diplopia, lid ecchymosis, xanthomatosis, conjunctival and corneal crystalline and noncrystalline deposits, scleritis, episcleritis, secondary glaucoma, ciliary body cysts, ciliochoroidal effusion, uveal plasmacytoma, hyperviscosity retinopathy, retinal vasculitis, detachment of sensory retina and retinal pigment epithelium, and neuro-ophthalmic manifestations.
Cysts of the ciliary body have been reported in 33%–50% of patients with myeloma, and retinal vascular lesions have been reported in up to 66% of the patients. Corneal and orbital involvement is less common.
Burki, in 1958, first described corneal crystals in a patient with myeloma. IgG-kappa deposits have been demonstrated in Bowman's membrane in patients of myeloma. Copper deposits in Descemet's membrane and band keratopathy associated with hypercalcemia can also occur in patients of myeloma.
In 1955, Bronstein demonstrated aggregates of plasma cells in the iris and choroid in patients of multiple myeloma. Capillary microaneurysms and vitreous hemorrhages have also been reported in patients with myeloma. Holt and Gordon-Smith noted the presence of retinopathy in 8 of 22 patients with myeloma. Most commonly, this consisted of discrete hemorrhages and occasionally flame-shaped hemorrhages. In half of these patients, retinopathy cleared with treatment. Hyperviscosity syndrome may sometimes be associated with multiple myeloma though it is more common in conditions such as macroglobulinemia and cryoglobulinemia. The retinal findings in hyperviscosity syndrome include venous congestion, venous dilatation and tortuosity, hemorrhages, or central vein occlusion, and disc edema. The incidence of retinopathy in macroglogulinemia ranges from 30% to 67%. The highest viscosities are seen in patients with macroglobulinemia because of the high molecular weight of IgM. IgG and IgA can also increase the serum viscosity in myeloma, especially since the IgA molecule can polymerize. Moreover, 80% of IgM is located intravascularly, as contrasted to only 40% for IgG.
Renal impairment is a common and severe complication of multiple myeloma. Renal impairment in multiple myeloma occurs in approximately 15%–40% of patients., This condition may be due to advanced age or may be a consequence of the disease itself, resulting primarily from the toxic effects of monoclonal light chains on the kidney. Other factors that may contribute to renal dysfunction include dehydration, hypercalcemia, hyperuricemia, hyperviscosity, and the use of nephrotoxic drugs.
Patients with myeloma are predominantly males, and the median age of presentation is 70 years. Our case is peculiar as the patient is a female and has presented at 34 years of age with rare ocular manifestations of myeloma in the form of cataract, corneal deposits, retinopathy, and also has ADPKD. Presence of ADPKD has further compromised the renal function. Literature review did not reveal any report on coexistent myeloma and ADPKD.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]