Von Hippel Lindau disease vHLD

A rare, autosomal dominant, inherited neuroectodermal disorder, that involves mutations of the vHL tumour suppressor gene on the short arm of chromosome 3 (Maher & Kaelin 1997). It usually presents in young adults with one or more of a variety of manifestations. Amongst the most serious of these are cerebellar, medullary or spinal haemangioblastomas, retinal angiomatosis, renal cell carcinoma and phaeochromocytoma. A high incidence of pancreatic lesions has recently been found (Neumann et al 1991). Genetic studies suggest familial clustering of the features (Neumann & Wiestler 1991).

Preoperative abnormalities

1. The predominant and earliest features are retinal angiomatosis and cerebellar haemangioblastomas, both of which occur in about 60% of affected individuals (Maher & Kaelin 1997). Lesions usually present separately, and, unless there is a known family history, the diagnosis of vHLD may only be made in retrospect.Tumours may recur, or new tumours appear.The frequency of phaeochromocytomas is 7—20%.A 14-year-old boy initially presented with a phaeochromocytoma and subsequently developed a cerebral angioblastoma, retinal angiomatosis, and a second phaeochromocytoma (personal observation).

2. Other associated conditions include renal and pancreatic cysts, islet cell tumours, angiomas of the liver and kidneys, epididymal cystadenoma, and spinal cord haemangio-blastomas.About 25% of patients with CNS haemangioblastomas subsequently turn out to have vHLD.

3. Erythrocytosis and a high haematocrit are common.

Anaesthetic problems

1. Surgery for one manifestation of the disease may be complicated by the presence of an undiagnosed phaeochromocytoma.

2. The problems of management of a phaeochromocytoma, if present. Pharmacological control ofphaeochromo-cytoma becomes the priority and surgery may have to be carried out in two stages (Mugawar et al 1998).

3. Spinal anaesthesia may be hazardous in the presence of an undiagnosed cerebral or spinal tumour, and spinal cord haemangioblastomas can occur at more than one level. However, epidural anaesthesia has been performed for Caesarean section in a patient with a known, small haemangioblastoma (Wang & Sinatra 1999). Following MRI of the spine, the needle was sited distal to the lesion.

4. Patients with known disease may become pregnant; others may present during pregnancy. In one patient, laminectomy was performed at 35 weeks for acute paraplegia resulting from a bleed into a spinal haemangioblastoma. Elective Caesarean section under epidural anaesthesia was subsequently undertaken at 37 weeks (Ogasawara et al 1995). Occasionally, Caesarean section and phaeochromocytoma removal may be combined (Joffe et al 1993).The safe management of the pregnant patient with a previously resected cerebral tumour has been reported (Matthews & Halshaw 1986).There is some suggestion that pregnancy may worsen the disease, by increasing the vascularity of tumours. One week after delivery, a patient with vHLD developed an oppressive headache and was found to have severe papilloedema. Urgent MRI showed hydrocephalus and cerebellar tonsillar herniation, secondary to a cyst from a haemangioblastoma, that had not been present on a previous scan. Neurosurgical intervention was lifesaving (Othmane et al 1999). A retrospective analysis of 56 unselected pregnancies in vHLD showed that although maternal morbidity was 5.4%, the survival rate of the fetus was 96.4% (Grimbert et al 1999).

5. Surgery may be required for more than one lesion at the same time. Ercan et al (1996) describe the combined removal of bilateral phaeochromocytoma and spinal cord haemangioblastoma.

Management

1. Careful assessment should be made for lesions other than the one for which anaesthesia is required, and in particular for any symptoms and signs of cerebral, cerebellar or spinal cord tumours. Patients with CNS haemangioblastomas have a 23% incidence of vHLD.

2. In the situation in which two lesions are present, decisions may have to be made as to whether to operate simultaneously or separately (Ercan et al 1996). During pregnancy the management of the delivery must be carefully planned in advance.

3. Although 24-h urinary screening for catecholamines can be performed, plasma normetanephrines and metanephrines are the most sensitive tests for detecting phaeochromocytomas in patients with family predisposition (Eisenhofer et al 1999).

4. In the presence of phaeochromocytoma, the pharmacological control of this becomes a priority. For preparation for phaeochromocytoma surgery (see Phaeochromocytoma).

Bibliography

Eisenhofer G, Lenders JWM, Linehan WM et al 1999 Plasma normetanephrine and metanephrine for detecting phaeochromocytoma in von Hippel—Lindau disease and multiple endocrine neoplasia type 2. New England Journal of Medicine 340:1872-9.

Ercan M, Kahraman S, Basgul E et al 1996 Anaesthetic management of a patient with von Hippel—Lindau disease: a combination of bilateral phaeochromocytoma and spinal cord haemangioblastoma. European Journal of Anaesthesiology 13: 81—3. Grimbert P, Chaveau D, Remy SRP et al 1999

Pregnancy in von Hippel—Lindau disease.American Journal of Obstetrics & Gynecology 180:110—11. Joffe D, Robbins R, Benjamin A 1993 Caesarean section and phaeochromocytoma resection in a patient with von Hippel—Lindau disease. Canadian Journal of Anaesthesia 40: 870—4. Maher ER, Kaelin WG Jr 1997 von Hippel—Lindau disease. Medicine 76: 381—91. Matthews AJ, Halshaw J 1986 Epidural anaesthesia in von Hippel—Lindau disease.Anaesthesia 41: 853—5.

Mugawar M, RajenderY, Purohit AK et al 1998 Anesthetic management of von Hippel—Lindau syndrome for excision of cerebellar hemangioma and pheochromocytoma surgery.Anesthesia & Analgesia 86: 673—4. Neumann HP,Wiestler OD 1991 Clustering of features of von Hippel—Lindau syndrome: evidence for a complex genetic locus. Lancet 337: 1052—4.

Neumann HP, Dinkel E, Brambs H et al 1991 Pancreatic lesions in the von Hippel—Lindau syndrome. Gastroenterology 101: 465—71. Ogasawara KK, Ogasawara EM, Hirata G 1995 Pregnancy complicated by von Hippel—Lindau disease. Obstetrics & Gynecology 85: 829—31.

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