Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria

Monem Makki Alshok

Department of Medicine, College of Medicine, University of Babylon, Babylon, Iraq.

DOI: 10.4236/ijcm.2014.520162                

Abstract

Ammar A., a 23-year-old male patient, who lives in Babylon, Haswa District, and his mother describes symptoms of growth retardation, skin changes, hair changes early graying and alopecia. These manifestation started early during his childhood period. There is canseguanity between the patient’s mother & father also one of the patient’s sister has similar illness and one male brother died few months following his birth. We admit the patient to hospital due acute pulmonary infection in Jan 2009, which is controlled after a course of antibiotic and after 5 months he develops generalised mucocuteneous bullous eruption which shows partial response to oral prednisolone 2 mg/Kg. The patient has normal IQ and he is in the secondary school and he has normal blood picture and the only abnormal biochemical abnormalities is mild hyperlipidemia Serum cholestrol of 5.8 mmol/L and Serum Triglyceride of 260 mg/dl. Ammar’s Sister Qawthar A., who has a similar phenotypic manifestations, presented skin vitiligo and hepatosplenomegaly associated with sever anemia and jaundice and her presentation suggestive of autoimmune haemolytic anemia improved following blood transfusion, corticosteroid and azothioprim. In February 2014 Ammer presented with multiple and diffuse cuteneous ecchymymosis with markedly prolonged PTT and slightly proloned bleeding time highly consistent with acquired Von Willebrand’s disease. In conclusion premature aging is a predisposing factor for disturbed immunity and development of autoimmune diseases.

Keywords

Progeria, Autoimmune Diseases, Pemphigus, Autoimmune Hemolytic Anemia, Acquired Von Willebrand Disease

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1]	[1] Debush, F.L. (1972) The HGP Syndrome. Report of 4 Cases and Review of Literature. The Journal of Pediatrics, 80, 697-724.
[2]	Fossel, M. (2000) Human Aging and Progeria. Journal of Pediatric Endocrinology & Metabolism, 13, 1477-1481.
[3]	Cao, H. and Hegle, R.A. (2003) LMNA Is Mutated in HGP Syndrome But Not in Wiedemann-Rautenstrauch Progeroid Syndrome. Journal of Human Genetics, 48, 271-274. http://dx.doi.org/10.1007/s10038-003-0025-3
[4]	Rodriguez, S., Coppedè, F., Sagelius, H. and Erikson, M. (2009) Increased Expression of the Hutchinson-Gilford Progeria Syndrome Truncated Lamin A Transcript during Cell Aging. European Journal of Human Genetics, 1-10.
[5]	Eriksson, et al. (2008) Reversible Phenotype in a Mouse Model of Hutchinson-Gilford Progeria Syndrome. Journal of Medical Genetics.
[6]	Capell, B.S., Tlougan, B.E. and Orlow, S.J. (2009) From the Rarest to the Most Common: Insights from Progeroid Syndromes into Skin Cancer and Aging. Journal of Investigative Dermatology, 129, 2340-2350.
[7]	Capell, et al. (2008) A Farnesyltransferase Inhibitor Prevents both the Onset and Late Progression of Cardiovascular Disease in a Progeria Mouse Model. Proceedings of the National Academy of Sciences, 105, 15902-15907.
[8]	Rodriguez, S., Coppedè, F., Sagelius, H. and Erikson, M. (2009) Increased Expression of the Hutchinson-Gilford Progeria Syndrome Truncated Lamin A Transcript during Cell Aging. European Journal of Human Genetics, 17, 928-937. http://dx.doi.org/10.1038/ejhg.2008.270
[9]	Fong, L.G., Vickers, T.A., Farber, E.A., Choi, C., Yun, U.J., Hu, Y., Yang, S.H., Coffinier, C., Lee, R., Yin, L., Davies, B.S., Andres, D.A., Spielmann, H.P., Bennett, C.F. and Young, S.G. (2009) Activating the Synthesis of Progerin, the Mutant Prelamin A in Hutchinson-Gilford Progeria Syndrome, with Antisense Oligonucleotides. Human Molecular Genetics, 18, 2462-2471. http://dx.doi.org/10.1093/hmg/ddp184
[10]	Busch, A., Kiel, T., Heupel, W.M., Wehnert, M. and Huebner, S. (2009) Nuclear Protein Import Is Reduced in Cells Expressing Nuclear Envelopathy-Causing Lamin A Mutants. Experimental Cell Research, 315, 2373-2385. http://dx.doi.org/10.1016/j.yexcr.2009.05.003
[11]	Kaiser, H.W. and Hanfland, J. (2002) eMedicine: Hutchinson-Gilford Progeria.
[12]	Brown, W.T., Gordon, L.B. and Collins, F.S. (2003) Hutchinson-Gilford Syndrome. http://www.emedicine/com/derm/topic731.htm
[13]	Federici, A.B., Rand, J.H., Bucciarelli, P., et al. (2000) Acquired Von Willebrand Syndrome: Data from an International Registry. Thrombosis and Haemostasis, 84, 345-349.
[14]	Nichols, W.L., Rick, M.E., Ortel, T.L., et al. (2009) Clinical and Laboratory Diagnosis of Von Willebrand Disease: A Synopsis of the 2008 NHLBI/National Institutes of Health guidelines. American Journal of Hematology, 84, 366-370. http://dx.doi.org/10.1002/ajh.21405