Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

01 August 2007

Atypical Takayasu arteritis: A family with five affected siblings

Irfan Jeeva, Jamal Sajid, Osman Ali, David T. Bonthron, Philippe M. Frossard

Med Sci Monit 2007; 13(8): CS101-105 :: ID: 491663

Abstract

Background: Takayasu disease is a giant cell arteritis, primarily affecting the aorta and its main branches, particularly over the first 1.5 cm. It is more common in South-East Asian countries and in young females, whose clinical manifestations range from asymptomatic to catastrophic neurological impairment.
Case Report: We report on a Pakistani family in which five of seven siblings, aged 12 to 19 years, are affected with atypical Takayasu arteritis. The proband is a 14-year-old male who presented with sudden, painless loss of vision. He was found to have absent pulses, retinal changes and magnetic resonance angiography (MRA) findings diagnostic of Takayasu arteritis. In addition, though, he had decreased intraocular pressure, murmur of mitral valve prolapse, as well as atypical involvement of the aorta as visualized in MRA and decreased renal blood flow; these last three findings are not usual features of the disease. The unique involvement in the aorta indicates that this patient corresponds to yet another sub-type in the angiographic classification of TA. Four siblings of the proband are asymptomatic but fulfill the diagnostic criteria of the American College of Rheumatology. This is the first reported multiplex family with Takayasu arteritis, in which more than two members meet the diagnostic criteria.
Conclusions: Previous reports indicate possible HLA associations of Takayasu disease in Japanese patients. Our present study indicates both that there may be clinical and etiological heterogeneity in Takayasu disease, and the possibility that an autosomal recessive form of the disease exists.

Keywords: Adolescent, Takayasu Arteritis - pathology, Siblings, Pedigree, Pakistan, Nervous System Diseases - metabolism, HLA Antigens - metabolism, Genes, Recessive, Family Health, Child, Blindness - genetics, Takayasu Arteritis - pathology, Siblings, Pedigree, Pakistan, Nervous System Diseases - metabolism, HLA Antigens - metabolism, Genes, Recessive, Family Health, Child, Blindness - genetics, Adolescent

Add Comment 0 Comments

Editorial

01 March 2024 : Editorial  

Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and Transfusion-Dependent β-Thalassemia

Dinah V. Parums

DOI: 10.12659/MSM.944204

Med Sci Monit 2024; 30:e944204

0:00

In Press

18 Mar 2024 : Clinical Research  

Sexual Dysfunction in Women After Tibial Fracture: A Retrospective Comparative Study

Med Sci Monit In Press; DOI: 10.12659/MSM.944136  

0:00

21 Feb 2024 : Clinical Research  

Potential Value of HSP90α in Prognosis of Triple-Negative Breast Cancer

Med Sci Monit In Press; DOI: 10.12659/MSM.943049  

22 Feb 2024 : Review article  

Differentiation of Native Vertebral Osteomyelitis: A Comprehensive Review of Imaging Techniques and Future ...

Med Sci Monit In Press; DOI: 10.12659/MSM.943168  

23 Feb 2024 : Clinical Research  

A Study of 60 Patients with Low Back Pain to Compare Outcomes Following Magnetotherapy, Ultrasound, Laser, ...

Med Sci Monit In Press; DOI: 10.12659/MSM.943732  

Most Viewed Current Articles

16 May 2023 : Clinical Research  

Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...

DOI :10.12659/MSM.940387

Med Sci Monit 2023; 29:e940387

0:00

17 Jan 2024 : Review article  

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799

0:00

14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990

0:00

01 Jan 2022 : Editorial  

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750