Research Notes: Hematological Aspects of Prader-Willi Syndrome (PWS)

Note: In addition to the published reports below, there are a number of anecdotal reports of blood clotting problems in those with PWS, including von Willebrand (factor VIII) disease.

See also: Chondroitin sulfate

JAMA. 1986 Jun 20.
Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency.
Futterweit W, Ritch R, Teekhasaenee C, Nelson ES.

A patient with Prader-Willi syndrome and unilateral congenital ectropion uveae with glaucoma was found to have factor XI deficiency and reduced levels of serum luteinizing hormone, follicle-stimulating hormone, and testosterone. Administration of gonadorelin (LH-RH) increased serum levels of luteinizing hormone and follicle-stimulating hormone, while clomiphene citrate had no effect, suggesting a primary hypothalamic defect. Patients with congenital ectropion uveae should be followed up for the development of both glaucoma and neural crest disorders.

Arch Kinderheilkd. 1966 Apr.
Blood coagulation disorder (Factor IX deficiency) in Prader-Willi syndrome. [Article in German]
Murken JD, Vogt D, Hehenberger I.

No abstract available.

Platelets. 2005 Mar.
Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology?
Ghosh K, Nair S, Shetty S, Rajapurkar M, Mohanty D.
Institute of Immunohematology (I.C.M.R), 13th Floor, K.E.M Hospital Campus, Parel, Mumbai, India.

Bernard Soulier syndrome (BSS) is an autosomal recessive disorder of platelet function. Factor XI deficiency leads to a variable bleeding tendency and the defect is also inherited in an autosomal recessive manner. In this paper we describe a case of BSS with severe deficiency of factor XI. The patient had both BSS and factor XI deficiency. The sister and both the parents were heterozygous for BSS and had factor XI deficiency. The brother is normal for both BSS and factor XI levels. Apart from the patient, no other family members had any history of bleeding in spite of having a deficiency of factor XI, which suggests that low level of factor XI in this family was not responsible for bleeding. Curiously, although the index patient inherited both Bernard Soulier syndrome and factor XI deficiency (FXI: C = 1.3%), he had mild bleeding symptoms restricted only to ecchymoses and petechiae. Detailed review of the pedigree showed that all the members who inherited the BSS phenotype, also inherited abnormal factor XI gene. Karyotype of the affected members of the family using standard Giemsa banding technique showed a normal picture. Considering the fact that the genes causing both BSS and factor XI are both on widely different chromosomes, their coinheritance in four members of the family without any unusual translocation suggest a unified pathology probably on the basis of a common transcription factor defect or a common post translational processing defect. This is the first case of coinheritance of BSS and factor XI deficiency reported in the English literature.

Thromb Haemost. 1990 Feb 19.
The effect of combined factor XI deficiency with von Willebrand factor abnormalities on haemorrhagic diathesis.
Tavori S, Brenner B, Tatarsky I.
Hematology Institute, Rambam Medical Center, Haifa, Israel.

To account for the lack of correlation between the level of factor XI (FXI) in deficient patients and haemorrhagic manifestations, we correlated the prevalence of combined FXI and von Willebrand's factor (vWF) deficiency in 212 FXI-deficient patients. Fifty-four patients had a combined FXI and vWF deficiency: 16 patients had severe and 38 patients had mild FXI deficiency. In a group of 28 patients with comparably mild FXI deficiency, 14 bleeders had significantly lower mean vWF, Ag, ristocetin cofactor and ristocetin induced platelet aggregation than 14 non-bleeders selected on the basis of comparable FXI levels. These findings suggest that the combination of FXI and vWF deficiency is common and may affect the bleeding tendency in mild FXI deficiency.