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Year : 2021  |  Volume : 3  |  Issue : 1  |  Page : 5

Atypical haemolytic uremic syndrome presenting with posterior lenticonus like opacities: A rare association

1 Department of Ophthalmology, AIIMS, Bhubaneswar, Odisha, India
2 Department of Pediatrics, AIIMS, Bhubaneswar, Odisha, India

Date of Submission03-Oct-2020
Date of Acceptance26-Nov-2020
Date of Web Publication10-Feb-2021

Correspondence Address:
Dr. Sucheta Parija
Department of Ophthalmology, AIIMS, Bhubaneswar, Odisha
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/pajo.pajo_54_20

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Hemolytic uremic syndrome (HUS) is one of the thrombotic microangiopathies characterized by intravascular hemolysis, thrombocytopenia, and end-organ damage. HUS is classified as typical (Shiga toxin producing Escherichia coli), atypical (uncontrolled complement activation), and secondary associated with other diseases. Ocular involvement is rare in atypical HUS (aHUS). Literature search using PubMed, Google scholar, Embase, etc., revealed very few case reports on ocular manifestations such as retinal detachment, putscher such as retinopathy, vitreous, and intraretinal hemorrhages, and optic atrophy that have been reported. Here, we report an atypical finding of posterior lenticonus and Grade I hypertensive retinopathy in a 13 years' boy diagnosed as aHUS with refractory hypertension who maintained stable vision after treatment with plasma exchange, mycophenolate mofetil, hemodialysis, and newer antihypertensive drugs (hydralazine).

Keywords: Atypical hemolytic uremic syndrome, hypertensive retinopathy, posterior lenticonus

How to cite this article:
Parija S, Kharolia A, Sekhar SC, Mishra S. Atypical haemolytic uremic syndrome presenting with posterior lenticonus like opacities: A rare association. Pan Am J Ophthalmol 2021;3:5

How to cite this URL:
Parija S, Kharolia A, Sekhar SC, Mishra S. Atypical haemolytic uremic syndrome presenting with posterior lenticonus like opacities: A rare association. Pan Am J Ophthalmol [serial online] 2021 [cited 2021 Dec 5];3:5. Available from: https://www.thepajo.org/text.asp?2021/3/1/5/309087

  Introduction Top

Hemolytic uremic syndrome (HUS) is a rare disease associated with hemolysis, thrombocytopenia, and thrombi in small vessels that lead to end organ damage.[1] It is divided into typical HUS (Shiga toxin HUS), and atypical HUS (aHUS) which is due to uncontrolled complement activation, with high level of serum ADAMTS13 and secondary due to association with other diseases.[2] aHUS represents 5%–10% of HUS in children.[1],[2] Ocular involvement is reported in only 4% of pediatric HUS cases with few reported ocular findings in aHUS such as retinal detachment, purtsher such as retinopathy, intraretinal hemorrhages, and optic atrophy.[3],[4] Here, we report a case of aHUS associated with early hypertensive retinopathy and posterior lenticonus.

  Case Report Top

A 13-year-old boy presented with complains of fever, hematuria, and seizures and altered sensorium since 1 week and was admitted in the pediatric ward. The patient was a diagnosed case of aHUS and had received multiple plasma exchange since the past 2 years. He had received three doses of methylprednisolone along with rituximab and mycophenolate mofetil during his illness. When mycophenolate mofetil was discontinued, the patient developed seizures and referred to our hospital for further management.

On examination, he was delirious with persistent hypertension (180/110 mm Hg). His current laboratory results showed decreased hemoglobin (8.6 g/dL), decreased platelet count (136,000/mm3), an elevated levels of serum creatinine (2 mg/dl), urea (86 mg/dl), and lactate dehydrogenase (430 U/L), urine micro-albumin was 376.74 mg/L. Serum ADAMTS13 activity was >14%. Anti-complement factor H (CFH) assay-503.75 AU/ml. Prothrombin time, activated partial thromboplastin time, and fibrinogen levels were normal. Direct Coombs test and cold agglutinin screen were negative. Peripheral smear showed anisocytosis with 0.3% schizocytes [Figure 1]. Magnetic resonance imaging brain revealed features of encephalopathy. Ultrasonography (USG) abdomen was normal.
Figure 1: Peripheral smear picture of the patient showing schistocytes

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He was diagnosed as hypertensive encephalopathy due to relapse of aHUS (anti-CFH +ve) and treated with prednisolone, mycophenolate mofetil, six antihypertensive drugs along with plasmapheresis and hemodialysis. In the due course of his treatment, he complained of blurring of vision and was referred for ophthalmological examination. The best-corrected visual acuity was 20/40 in both the eyes. Slit-lamp examination showed subtle changes in the posterior lens capsule suggestive of atypical posterior lenticonus in right eye [Figure 2]. The anterior segment was normal in the left eye. USG was normal. Intraocular pressure was 14 mmHg in both the eyes. Fundus examination revealed mild tortuosity of vessels suggestive of Grade I hypertensive retinopathy [Figure 3]a and [Figure 3]b. Optical coherence tomography showed no clinically significant macular edema and nerve fiber layers were normal [Figure 4]a and [Figure 4]b. The patient was advised for periodic fundus evaluation. After 12 weeks, the patient was stable with control of hypertension on addition of newer drug hydralazine (1.6 mg/kg/day) and visual acuity of 20/20.
Figure 2: Slit lamp image showing posterior lenticonus like opacities in the right eye

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Figure 3: a) Fundus photograph of the right eye showing vascular tortuosity and some diffuse arteriolar narrowing. b) Fundus photograph of the left eye showing diffuse tortuosity of blood vessels and AV crossing changes in the superior quadrant

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Figure 4: (a-b) Optical coherence tomography (OCT) of macula of both the eyes which showed regular thickness in all quadrants

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  Discussion Top

aHUS is a rare disease with a prevalence of 303 per million in patients below 18 years.[5] It is mainly caused due to mutations in the gene coding for the key complement regulator in plasma, CFH, rarely C3, factor B, factor I, and thrombomodulin.[6] The thrombotic microangiopathy that occurs, causes thickening of arterioles and capillaries, subendothelial accumulation of proteins and fibrin-platelet obstruction. This is the basic pathogenesis for multi-organ involvement including renal failure, and ischemic retinal changes.[6] For clinical diagnosis of aHUS, other secondary causes and thrombocytopenic purpura (ADAMTS 13 <10%) needs to be excluded. Genetic screening of six candidate gene (CFH, CF1, MCP, C3, CFB, and THBD) is essential to look for any mutations.[5] Recent advances of therapy with plasma exchange or eculizumab has improved the prognosis and mortality of aHUS.[5]

Literature review shows that ocular involvement is uncommon in aHUS. There are few reported cases of periorbital edema, vitreous and retinal hemorrhage, retinal occlusive disorders, retinal detachment, choroidal hemorrhage, and disc edema. Larakeb and Leroy et al. reported a case of vitreous hemorrhage due to aHUS, who improved with plasma exchange therapy after 4 weeks.[7] David et al. described a patient with aHUS and serous retinal detachment who was treated with hemodialysis, plasmapheresis, and eculizumab.[8] Zheng et al. described a case of central retinal vein occlusion with inferior rectus palsy treated with steroid.[9] Ustaoğlu et al. reported a case of purtscher's retinopathy with aHUS treated with eculizumab and hemodialysis.[6] Similarly, our patient was grade I hypertensive retinopathy with aHUS treated with hemodialysis, plasmapheresis, and mycophenolate mofetil. He was further treated with antihypertensive drugs for control of the blood pressure. Although our patient had mild tortuosity of vessels in retina (Grade I hypertensive retinopathy), still this early change can progress to significant retinal hemorrhages leading to vision loss. Hence, the importance of routine fundus examination cannot be overemphasized in these cases.

The prevalence of posterior lenticonus in children <15 years is 1–4 per 100,000 children.[10] Meyer in 1888 first described this disease. Unilateral and sporadic cases are rare in contrast to bilateral posterior lenticonus which is inherited with a genetic predisposition on X chromosome.[10] Although the pathogenesis is uncertain, yet various hypothesis postulated are posterior cortical fibers and capsule is herniated into the vitreous at a weak point during development; abnormalities of tunica vasculosa lentis; traction of hyaloid artery with posterior capsular rupture; aberrant hyperplasia of subcapsular epithelial and trauma.[11] Posterior lenticonus till date is mostly an isolated findings and rarely associated with Lowe and Alport syndromes where mutation in Type IV collagen causes thinning of posterior lens capsule. In our case, lenticular opacities may be congenital with posterior lenticonus type. Ultrasound Biomicroscopy study can help in diagnosis when clinical picture is atypical. Furthermore, prolonged use of corticosteroids can be a probable cause for lenticular opacities.

There has been no reported case of lenticular opacities with aHUS till date to the best of our knowledge. Due to financial constraints, genetic testing could not be done. As of now there has been no association detected between complement factor genes with posterior lenticonus like lenticular opacities in literature studies. In future, in-depth genetic and molecular studies can explain its occurrence.

  Conclusion Top

Although ocular findings in aHUS are rare, ocular examination is crucial for early detection of retinopathies and lens opacifications to prevent vision threatening complications as the disease progresses. Awareness among pediatricians and ophthalmologists to coordinate for better management of these life-threatening diseases is crucial.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Rafiq A, Tariq H, Abbas N, Shenoy R. Atypical hemolytic-uremic syndrome: A case report and literature review. Am J Case Rep 2015;16:109-14.  Back to cited text no. 1
Afshar-Kharghan V. Atypical hemolytic uremic syndrome. Hematology Am Soc Hematol Educ Prog 2016;2016:217-25.  Back to cited text no. 2
Lin IH, Chen YJ, Chang PY, Hsiao PW, Weng TH, Chang YH. Bilateral proliferative retinopathy and ischemic optic neuropathy in a patient with atypical hemolytic-uremic syndrome: A case report. Medicine (Baltimore) 2019;98:e17232.  Back to cited text no. 3
Yenerel MN. Atypical hemolytic uremic syndrome: Differential diagnosis from TTP/HUS and Management. Turk J Haematol 2014;31:216-25.  Back to cited text no. 4
Yoshida Y, Kato H, Nangaku, M. Atypical hemolytic uremic syndrome. Ren Replace Ther 3,2017; 5:1-10  Back to cited text no. 5
Ustaoğlu M, Önder F, Solmaz N, Öztürk S, Ayer M. Purtscher-like retinopathy associated with atypical hemolytic uremic syndrome. Turk J Ophthalmol 2017;47:348-50.  Back to cited text no. 6
Larakeb A, Leroy S, Frémeaux-Bacchi V, Montchilova M, Pelosse B, Dunand O, et al. Ocular involvement in hemolytic uremic syndrome due to factor H deficiency--are there therapeutic consequences?. Pediatr Nephrol. 2007;22:1967-70.  Back to cited text no. 7
David R, Hochberg-Klein S, Amer R. Resolution of ocular involvement with systemic eculizumab therapy in atypical hemolytic-uremic syndrome. Eye (Lond) 2013;27:997-8.  Back to cited text no. 8
Zheng X, Gorovoy IR, Mao J, Jin J, Chen X, Cui QN. Recurrent ocular involvement in pediatric atypical hemolytic uremic syndrome. J Pediatr Ophthalmol Strabismus 2014;51:62-65.  Back to cited text no. 9
Ranjan P, Mishra D, Bhadauria M. Atoll sign in posterior lenticonus: A case report of bilateral posterior lenticonus with review of literature. J Clin Ophthalmol Res 2014;2:152-4.  Back to cited text no. 10
  [Full text]  
Khokhar S, Dhull C, Mahalingam K, Agarwal P. Posterior lenticonus with persistent fetal vasculature. Indian J Ophthalmol 2018;66:1335-6.  Back to cited text no. 11
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