Resumo

VILLAR GOMEZ DE LAS HERAS, K.. Description of the von Hippel-Lindau disease in three Spanish families. An. Med. Interna (Madrid) [online]. 2002, vol.19, n.7, pp.34-38. ISSN 0212-7199.

Purpose: To describe disease evolution and clinical follow-up of 10 patients in three Spanish families.  Patients and methods: Patients were contacted through the von Hippel-Lindau Family Alliance (VHLFA). Compilation of medical reports and patient interviews were carried out in May of 2001. This is a retrospective study of a case series.  Results: Family history was suggestive of von Hippel-Lindau disease in two of the families. A 'de novo' mutation is described in the third family. The mean patient age is 30,8 (range: 15-53). The age of presentation was <30 in 9 patients. In 8 of the patients, eye involvement was the first VHL presentation. 7 patients currently have hemangioblastomas of the CNS. Most patients are not participants in management protocols for the coordinate care of their various VHL lesions. 6 patients had documented pancreatic involvement and 3 patients had renal cancer. Clinical screening for occult pheochromocytomas were performed in 5 pacients. 4 were deceased from VHL-related complications. Genetic studies had been performed in 4 of the 6 survivors.  Conclusions: Disease progression in our series is similar to that previously described for other families. Diagnosis was delayed in two of the families. Suboptimal patient management may have contributed to the high morbidity and mortality. 

Palavras-chave : von Hippel-Lindau disease; Hemangioblastoma; pheochromocytoma; Carcinoma; renal cell.

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