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CASE REPORT
Year : 2021  |  Volume : 5  |  Issue : 2  |  Page : 207-209

A female with mucocutaneous telangiectases and portal hypertension: A case report of osler-weber-rendu syndrome


Department of Dermatology, Venereology and Leprosy, Gujarat Cancer Society Medical College, Hospital and Research Centre, Ahmedabad, Gujarat, India

Date of Submission05-Mar-2020
Date of Decision18-Jul-2020
Date of Acceptance10-Aug-2020
Date of Web Publication26-Aug-2021

Correspondence Address:
Vidhi S Chandibhamar
Room No-35, Department of Dermatology, Venereology and Leprosy, Gujarat Cancer Society Medical College, Hospital and Research Centre, Ahmedabad, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/CDR.CDR_58_20

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  Abstract 


Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder manifested by telangiectases of the skin and mucous membranes and arteriovenous malformations of various organ systems. We report a case of 45-year-old postmenopausal woman who presented to dermatology department for evaluation of compressible vascular lesion involving bilateral palms and oral cavity for the past 3 months' duration. On further evaluation, she was found to have portal hypertension and multiple cavernoma formation on place of portal vein.

Keywords: Mucocutaneous telangiectasia, Osler-Weber-Rendu syndrome, portal hypertension


How to cite this article:
Chandibhamar VS, Patel BR, Patel A, Padhiyar JK. A female with mucocutaneous telangiectases and portal hypertension: A case report of osler-weber-rendu syndrome. Clin Dermatol Rev 2021;5:207-9

How to cite this URL:
Chandibhamar VS, Patel BR, Patel A, Padhiyar JK. A female with mucocutaneous telangiectases and portal hypertension: A case report of osler-weber-rendu syndrome. Clin Dermatol Rev [serial online] 2021 [cited 2021 Dec 1];5:207-9. Available from: https://www.cdriadvlkn.org/text.asp?2021/5/2/207/324567




  Introduction Top


Osler-Weber-Rendu syndrome (OWRS) or hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder with incidence of 1–2 cases/100,000 population.[1] arteriovenous malformations (AVM) and the associated hemorrhage.

Symptoms and signs may present at the age of 40 years.[2] HHT occurs with equal frequency and severity in males and females.[3] HHT has a higher prevalence in certain populations, such as the Afro-Caribbean residents of Curacao and Bonaire.[2] The major cause of morbidity and mortality lies in the presence of multiorgan AVM and the associated hemorrhage.

Epistaxis is the most common (96%) and first clinical manifestation, followed by cutaneous telangiectasias (75%). The vascular malformations may involve lungs, liver, kidney, and brain. Portal venous hypertension is reported (<10%) with OWRS.[4]

We report a case fulfilling all major criteria for OWRS with esophageal varices due to portal hypertension.


  Case Report Top


A 45-year-old postmenopausal female born to nonconsanguineous parents presented with multiple red asymptomatic lesions on the tongue [Figure 1]a and both palms [Figure 1]b of 3 months' duration along with epistaxis for the past 9 months (frequency being once in 3 months). She had a history of recurrent spontaneous severe bleeding from the lesions even on mild trauma. There was no history of bleeding from any other sites. There was a history of similar lesions being present in her mother.
Figure 1: (a and b) Multiple compressible vascular lesions over tongue and palms respectively

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Dermatologically, multiple erythematous macular blanchable lesions on both palms, multiple erythematous compressible non-pulsatile papulonodular lesions on the tongue, and multiple petechiae over the palate were evident. Dermoscopy revealed multiple radiating linear vessels and histopathology revealed multiple ectatic capillaries [Figure 2]a and [Figure 2]b. We considered differential diagnosis such as angiokeratoma, portal hypertension-induced vascular ectasia, and OWRS.
Figure 2: (a) Dermoscopy (polarized, ×10, Heine Delta T20) revealed multiple radiating linear vessels. (b) Histopathology revealed multiple ectatic capillaries in superficial dermis (H and E, ×40)

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Blood investigations such as complete blood count, renal and liver function tests, coagulation profile, and direct and indirect coombs test revealed no abnormalities. Ultrasonography of abdomen revealed portal hypertension (portal vein was replaced by multiple collaterals suggesting possibility of cavernous formation). Multiple collaterals noted in peripancreatic, peri-gallbladder, umbilical, and RIF region. Marked periportal and perigallbladder cuffing is noted) and early changes of adenomyosis. Upper gastrointestinal (GI) scopy revealed small esophageal varix. On ophthalmic examination, pinpoint hemorrhage in the left lower palpebral conjunctiva was seen. On fundoscopic examination, no AVM was seen. Magnetic resonance imaging of brain revealed no vascular abnormality.


  Discussion Top


The curacao diagnostic criteria is used for the diagnosis of OWRS.[5]

  1. Epistaxis: Spontaneous, recurrent nose bleeds
  2. Cutaneous and mucosal telangiectasia: Multiple, at characteristic sites (lips, oral cavity, fingers, and nose)
  3. Visceral lesions: GI telangiectasia (with or without bleeding) and AVM (pulmonary, hepatic, cerebral, and spinal)
  4. Family history: A first-degree relative with HHT.


The presence of three criteria makes a definite diagnosis and two are needed for a possible diagnosis. Our patient fulfilled all four criteria.

HHT type-1 and 2 are due to defective endoglin and activin receptor-like kinase (ALK1) genes, on chromosome 9 and 12, respectively.[6] HHT type-3 involves mutations on chromosome 5 (5q31.1–32) and type-4 maps to the chromosome 7 (7p14).[7] A HHT-juvenile polyposis overlap syndrome due to mutations of SMAD4 has also been described. Patients with the HHT Type-1 genotype have higher prevalence of pulmonary and cerebral AVM, and more severe GI bleeding while, the prevalence of hepatic AVM is higher in patients with HHT type-2.[8] We were unable to do genetic test because of its nonavailability. Although the precise mechanism remains poorly understood, bleeding tendency in HHT is attributed to localized vessel wall weakness.

HHT is a common cause of hepatic involvement in the form of focal nodular hyperplasia and hepatic AVMS, more commonly reported with ALK1 mutation with a prevalence of up to 84%. However, portal hypertension is uncommon with presence in <10% patients.[9] Portal hypertension and hepatic encephalopathy more commonly appear to result from increased sinusoidal blood flow, leading to enhanced deposition of fibrous tissue, and pseudo cirrhosis of the liver.[10],[11] Index case had normal size and normal echopattern of liver but findings of portal hypertension were seen.

Although not described in our patient, ocular manifestations are of interest. This includes ocular signs and symptoms such as bloody tears, conjunctival posthemorrhagic granulomatous lesions, and telangiectasias at the level of the conjunctiva (most common ocular finding) and posterior pole, retinal vascular malformation, choroidal telangiectasia, retinal telangiectasia, and AVM.[12]

Asymptomatic portal hypertension, pulmonary, and cerebral AVM with hemorrhagic or embolic complications (brain abscess and stroke) are responsible for most of the HHT's mortality rate (10%). Our patient also had asymptomatic portal hypertension. It is crucial that a long-term follow-up for the identification of potential complications is maintained and patients are counseled regarding the autosomal dominant nature of the condition.

Neurological manifestations are more common in those with pulmonary arteriovenous fistula than in those with cerebrovascular malformations.

Various histopathological findings as per other reports are described [Table 1].[13],[14]
Table 1: Various histopathological findings as per other reports

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Surveillance guidelines include annual investigation for anemia and a neurological examination. The patient should be screened for pulmonary artery AVM and a contrast echocardiogram performed if saturation is less the 97%.[4]

The varied treatment modalities described includes estrogen, Î-amino-caproic acid, cryotherapy, cautery, infrared coagulation, radiofrequency, pulse dye laser, Nd-YAG laser, and surgical ablation.[15]

This case is being reported because of its rarity and for general awareness regarding the disease among dermatologist. In addition, our case also had rare manifestation in the form of portal hypertension for which patient needs to be observed.

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 initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Khoja AM, Jalan RK, Jain DL, Kajale OV. Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis. Lung India 2016;33:313-6.  Back to cited text no. 1
[PUBMED]  [Full text]  
2.
Macri A, Wilson AM, Shafaat O, Sharma S. Osler-Weber-Rendu Disease. 2020 Aug 10. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020. PMID: 29493983.  Back to cited text no. 2
    
3.
Kumar V, Abbas AK, Aster JC. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Philadelphia: Elsevier Saunders; 2015. p. 483-522.  Back to cited text no. 3
    
4.
Singh A, Suri V, Jain S, Varma S. Rare manifestations in a case of Osler-Weber-Rendu disease. BMJ Case Rep 2015;2015:bcr2014207852. doi: 10.1136/bcr-2014-207852.  Back to cited text no. 4
    
5.
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66-7.  Back to cited text no. 5
    
6.
Gu Y, Jin P, Zhang L, Zhao X, Gao X, Ning Y, et al. Functional analysiss of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia. Blood 2006;107:1951-4.  Back to cited text no. 6
    
7.
Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary hemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 2005;42:577-82.  Back to cited text no. 7
    
8.
Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13:189-95.  Back to cited text no. 8
    
9.
Buonamico P, Suppressa P, Lenato GM, Pasculli G, D'Ovidio F, Memeo M, et al. Liver involvement in a large cohort of patients with hereditary hemorrhagic telangiectasia: Echo-color-Doppler vs multislice computed tomography study. J Hepatol 2008;48:811-20.  Back to cited text no. 9
    
10.
Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2000;343:931-6.  Back to cited text no. 10
    
11.
Saluja S, White RI. Hereditary hemorrhagic telangiectasia of the liver: Hyperperfusion with relative ischemia--poverty amidst plenty. Radiology 2004;230:25-7.  Back to cited text no. 11
    
12.
Rinaldi M, Buscarini E, Danesino C, Chiosi F, De Benedictis A, Porcellini A, et al. Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series. Ophthalmic Genet 2011;32:12-7.  Back to cited text no. 12
    
13.
Jacobson BS. Hereditary hemorrhagic telangiectasia: A model for blood vessel growth and enlargement. Am J Pathol 2000;156:737-42.  Back to cited text no. 13
    
14.
Lee HE, Sagong C, Yeo KY, Ko JY, Kim JS, Yu HJ. A case of hereditary hemorrhagic telangiectasia. Ann Dermatol 2009;21:206-8.  Back to cited text no. 14
    
15.
Grover S, Grewal RS, Verma R, Sahni H, Muralidhar R, Sinha P. Osler-Weber-Rendu syndrome: A case report with familial clustering. Indian J Dermatol Venereol Leprol 2009;75:100-1.  Back to cited text no. 15
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