Von Hippel-Lindau disease
Updates to Article Attributes
Von Hippel-Lindau (vHL) disease is a multi-system disorder characterised by the development of numerous benign and malignant tumours (at least 40 types 1), as well as several non-malignant lesions.
Patients may develop some or all of the various lesions which include:
- phaeochromocytoma(s)
-
CNS haemangioblastoma(s)
- cerebellar (~75%)
- spinal (~25%)
- retinal haemangioblastoma(s)
- choroid plexus papilloma (CPP)
- endolymphatic sac tumours (ELST)
- numerous pancreatic lesions (may be the earliest manifestation 3)
- renal lesions
- renal cell carcinoma(s): usually of the clear cell type 7; can occur in up to 40% of cases and is one of the most feared complications; RCCs present at an earlier age in those with vHL
- renal cysts: can occur in up to 75% of cases 5; often tend to be bilateral and multiple
- renal angiomyolipoma(s)
- liver cysts
- papillary cystadenoma(s) of the epididymis
Epidemiology
The disease is rare with an estimated prevalence of 1:35,000-50,000.
Pathology
Genetics
The disease carries an autosomal dominant inheritance with high expression and variable penetrance. Classically results from an inactivation of a tumour suppression gene located on chromosome 3p25.5. However, no mutation identified in up to 30% of cases.
Radiographic features
Please refer to articles on individual lesions for specific imaging characteristics.
Treatment and prognosis
Most lesions with vHL are treatable and screening is recommended. Some experts advocate routine screening starting in adolescence.
History and etymology
Eugen von Hippel (1867-1939) was a German ophthalmologist that had described a rare disorder of the retina in 1904 and seven years later reported the basis of this disease, named as "angiomatosis of the retina".
Arvid Vilhelm Lindau (1892-1958) was a Swedish pathologist and bacteriologist that described the association between angiomatosis of the retina with hemangioblastomas of the cerebellum and other CNS parts and other visceral components of a disease so called as "angiomatosis of the central nervous system".
In 1964 the disease was renamed to “Von Hippel-Lindau disease”.
-<a href="/articles/haemangioblastoma-central-nervous-system">CNS haemangioblastoma(s)</a><ul>- +<a href="/articles/haemangioblastoma-central-nervous-system-1">CNS haemangioblastoma(s)</a><ul>
-<a href="/articles/renal-cysts">renal cysts</a>: can occur in up to 75% of cases <sup>5</sup>; often tend to be bilateral and multiple</li>- +<a href="/articles/renal-cyst-1">renal cysts</a>: can occur in up to 75% of cases <sup>5</sup>; often tend to be bilateral and multiple</li>
-<li><a href="/articles/papillary-cystadenomas-of-the-epididimis">papillary cystadenoma(s) of the epididymis</a></li>-</ul><h4>Epidemiology</h4><p>The disease is rare with an estimated prevalence of 1:35,000-50,000.</p><h5>Genetics</h5><p>The disease carries an autosomal dominant inheritance with high expression and variable penetrance. Classically results from an inactivation of a tumour suppression gene located on chromosome 3p25.5. However, no mutation identified in up to 30% of cases.</p><h4>Radiographic features</h4><p>Please refer to articles on individual lesions for specific imaging characteristics.</p><h4>Treatment and prognosis</h4><p>Most lesions with vHL are treatable and screening is recommended. Some experts advocate routine screening starting in adolescence.</p><h4>History and etymology</h4><p><strong>Eugen von Hippel</strong> (1867-1939) was a German ophthalmologist that had described a rare disorder of the retina in 1904 and seven years later reported the basis of this disease, named as "angiomatosis of the retina". </p><p><strong>Arvid Vilhelm Lindau</strong> (1892-1958) was a Swedish pathologist and bacteriologist that described the association between angiomatosis of the retina with hemangioblastomas of the cerebellum and other CNS parts and other visceral components of a disease so called as "angiomatosis of the central nervous system".</p><p>In 1964 the disease was renamed to “Von Hippel-Lindau disease”.</p>- +<li><a href="/articles/papillary-cystadenoma-of-the-epididymis">papillary cystadenoma(s) of the epididymis</a></li>
- +</ul><h4>Epidemiology</h4><p>The disease is rare with an estimated prevalence of 1:35,000-50,000.</p><h4>Pathology</h4><h5>Genetics</h5><p>The disease carries an autosomal dominant inheritance with high expression and variable penetrance. Classically results from an inactivation of a tumour suppression gene located on chromosome 3p25.5. However, no mutation identified in up to 30% of cases.</p><h4>Radiographic features</h4><p>Please refer to articles on individual lesions for specific imaging characteristics.</p><h4>Treatment and prognosis</h4><p>Most lesions with vHL are treatable and screening is recommended. Some experts advocate routine screening starting in adolescence.</p><h4>History and etymology</h4><p><strong>Eugen von Hippel</strong> (1867-1939) was a German ophthalmologist that had described a rare disorder of the retina in 1904 and seven years later reported the basis of this disease, named as "angiomatosis of the retina". </p><p><strong>Arvid Vilhelm Lindau</strong> (1892-1958) was a Swedish pathologist and bacteriologist that described the association between angiomatosis of the retina with hemangioblastomas of the cerebellum and other CNS parts and other visceral components of a disease so called as "angiomatosis of the central nervous system".</p><p>In 1964 the disease was renamed to “Von Hippel-Lindau disease”.</p>
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