Osteopetrosis: A New Cause of Upper Gastrointestinal Bleeding

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Abstract

Osteopetrosis is a genetic disorder of bone remodeling caused by osteoclast dysfunction. Clinical features include short stature, frequent fractures, and recurrent infections. Abnormal bone obliterates the marrow cavity, resulting pancytopenia and extramedullary hematopoiesis in the liver and spleen. The splenomegaly can lead to left-sided portal hypertension. We report the second case of osteopetrosis-induced portal hypertension and the first case of upper gastrointestinal bleeding in a 52-year-old woman with osteopetrosis.

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Osteopetrosis

Zornitza Stark, Ravi Savarirayan (2009)

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis). Classic ARO is characterised by fractures, short stature, compressive neuropathies, hypocalcaemia with attendant tetanic seizures, and life-threatening pancytopaenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO. Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable, and paves the way to understanding natural history, specific treatment where available, counselling regarding recurrence risks, and prenatal diagnosis in severe forms. Treatment of osteopetrotic conditions is largely symptomatic, although haematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and currently offers the best chance of longer-term survival in this group. The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Life expectancy in the adult onset forms is normal. It is anticipated that further understanding of the molecular pathogenesis of these conditions will reveal new targets for pharmacotherapy.

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Osteopetrosis.

Jakub Tolar, Steven Teitelbaum, Paul Orchard (2004)

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Left-sided portal hypertension.

Seyfettin Köklü, Şahin Çoban, Osman Yuksel … (2007)

Left-sided portal hypertension is a rare clinical syndrome which may lead to bleeding from isolated gastric varices. Pancreatic disease is the most common etiology. Left-sided portal hypertension should be considered in the presence of gastrointestinal bleeding with normal liver function and unexplained splenomegaly. It may be difficult to diagnose this entity both endoscopically and radiologically. While splenectomy is the treatment of choice for cases complicated by variceal bleeding, there is no consensus on the treatment of asymptomatic patients. The prognosis of left-sided portal hypertension mainly depends on the underlying etiology.

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Journal

Journal ID (nlm-ta): ACG Case Rep J

Journal ID (iso-abbrev): ACG Case Rep J

Journal ID (publisher-id): crj

Title: ACG Case Reports Journal

Publisher: American College of Gastroenterology

ISSN (Electronic): 2326-3253

Publication date Collection: October 2014

Publication date (Electronic): 10 October 2014

Volume: 2

Issue: 1

Pages: 45-47

Affiliations

[1 ]Department of Internal Medicine, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ

[2 ]Department of Gastroenterology and Hepatology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ

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Correspondence: Kristina N. Katz, 5 Indigo Drive, Old Bridge, NJ 08857 ( katzkn@ 123456gmail.com ).

Article

Publisher ID: crj.2014.80

DOI: 10.14309/crj.2014.80

PMC ID: 4435355

PubMed ID: 26157903

SO-VID: 57e9cacf-f0ba-448b-9b28-ad18b6f38c19

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This is an open-access article. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/

Osteopetrosis: A New Cause of Upper Gastrointestinal Bleeding

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European Journal of Medical Case Reports (EJMCR)

Most cited references 7

Osteopetrosis

Osteopetrosis.

Left-sided portal hypertension.

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