Hereditary hemorrhagic telangiectasia. Genetics, pathogenesis, clinical manifestation and management.

Hereditary hemorrhagic telangiectasia HHT, Morbus Osler or Osler-Weber-Rendu syndrome OMIM 187300, is an autosomal dominant disorder characterized by epistaxis, telangiectasia, multi-systemic vascular dysplasia and clinical presentation of wide variation. The pathogenesis involves dilated post-capillary venules or telangiectases in the mucus membrane of various organs as well as larger arteriovenous malformations. Genetic heterogeneity of HHT is confirmed; 2 disease loci, ACVRL1 and ENG genes, have been identified and characterized.

Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality.

In a large Saudi Arabian family with hereditary hemorrhagic telangiectasia (HHT), we identified ACVRL1 (ALK1) nonsense mutation Q490X in 40 HHT patients and three healthy children, but neither in 11 individuals with epistaxis, 41 other healthy family members, nor in 50 healthy unrelated Saudi Arabian controls. Sequence analysis of the entire coding region of the ACVRL1 and ENG genes in five of the 11 epistaxic individuals did not reveal any other disease-causing mutation. Epistaxis seems to be a relatively common phenocopy of HHT in the family under study.

Increased seroprevalence of human herpes virus-8 in renal transplant recipients in Saudi Arabia.

Background: Human herpes virus-8 (HHV-8) is a herpes virus that is always associated with Kaposi's sarcoma. Previous studies suggested a high rate of Kaposi's sarcoma in renal transplant patients in Saudi Arabia. The aim of this study was to investigate the prevalence of HHV-8 in Saudi renal transplant recipients and healthy controls.

Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.

Hereditary hemorrhagic telangiectasia (HHT), or Osler-Rendu-Weber syndrome, is a heterogeneous inherited disorder characterized by multi-systemic vascular dysplasia and wide variation in its phenotypic expression. Hepatic manifestation is seen in about 8 to 30 % of the patients. The molecular basis for liver involvement is unknown.

Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene.

Objective: Naxos disease is a rare hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. This study aims to determine whether Naxos disease in a Saudi Arab family is caused by the Pk2157del2 mutation that was identified in Greek families from Naxos Island where the disease had originally been described.

Methods: This study was undertaken at King Fahad Hospital of the University, Al-Khobar, and the Medical University of Hannover, in the spring of 2003.

The cytokine TNF-alpha. Genetics and suitability for prenatal risks assessment.

The tumor necrosis factor (TNF-alpha) is a cytokine known as a mediator of inflammation and immunity. The genes coding the tumor necrosis factors alpha and beta are considered part of class III major histocompatability complex. The 2 involved genes have been mapped to chromosome 6.

Pre-eclampsia: maternal risk factors and perinatal outcome.

Objective: The aim of this study was to throw light on the incidence of pre-eclampsia (PE) in women attending for care and delivery at a hospital in Saudi Arabia, and analyze the maternal risk factors and outcome of mothers and neonates in pregnancies complicated by PE.

Methods: This retrospective study involved almost all women (n = 27,787) who delivered at King Fahad Hospital of the University in a 10-year period (1992-2001). The maternal records were reviewed for age, parity, gestational age, mode of delivery, antenatal care, onset of PE, severity of proteinuria, and the frequency of antenatal and intrapartum complications.

BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia.

Objective: The aim of this pilot study was to screen the major segments of the BRCA1 and BRCA2 genes for disease-associated mutations in Arab and Asian women with breast cancer from the Kingdom of Saudi Arabia.

Methods: Deoxyribonucleic acid samples from 29 Arab women and 11 Asian women, with unilateral breast cancer were investigated for BRCA1 and BRCA2 mutations. For this purpose single strand conformation polymorphism and direct nucleotide sequencing techniques were employed.

PCR-based analysis of cystic fibrosis mutations specific for Saudi patients.

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