New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome.

2012

Teachey DT.

Source

Division of Pediatric Hematology, Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia, Pennsylvania, USA. teacheyd@E-Mail.chop.edu

Abstract

PURPOSE OF REVIEW:

Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of disrupted lymphocyte homeostasis, resulting from mutations in the Fas apoptotic pathway. Clinical manifestations include lymphadenopathy, splenomegaly, and autoimmune cytopenias. A number of new insights have improved the understanding of the genetics and biology of ALPS. These will be discussed in this review.

RECENT FINDINGS:

A number of key observations have been made recently that better define the pathophysiology of ALPS, including the characterization of somatic FAS variant ALPS, the identification of haploinsufficiency as a mechanism of decreased Fas expression, and the description of multiple genetic hits in FAS in some families that may explain the variable penetrance of the disease. In addition, ALPS has been shown to be a more common condition, as patients diagnosed with other disorders, including Evans syndrome and common variable immune deficiency, have been found to have ALPS. Finally, the treatment of the disease has changed as splenectomy and rituximab have been shown to have unexpected ALPS-specific toxicities, and mycophenolate mofetil and sirolimus have been demonstrated to have marked activity against the disease.

SUMMARY:

On the basis of novel advances, the diagnostic algorithm and recommended treatment for ALPS have changed significantly, improving quality of life for many patients.

Pediatrics

Treatment of lymphatic malformations: a more conservative approach.

Oct 2012

Gilony D, Schwartz M, Shpitzer T, Feinmesser R, Kornreich L, Raveh E.

Source

Department of Otolaryngology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: drorgil@zahav.net.il.

Abstract

BACKGROUND/PURPOSE:

Lymphatic malformation is a benign disfiguring lesion of the neck and face in children. This study investigated the application and outcome of different modes of treatment.

METHODS:

The medical files of all children with lymphatic malformation of the head and neck attending a tertiary medical center in 1999 to 2010 were reviewed. Findings were compared by treatment: surgery, OK-432 sclerotherapy, or observation.

RESULTS:

The study group included 46 patients, most (65%) with macrocystic disease. Twenty were treated by OK-432 sclerotherapy, and 15, by surgery; 11 (with minor disfigurement) were observed only. Mean follow-up time was 2.4 years. Complete removal or complete response to treatment was achieved in 67% of the surgery group and 45% of the OK-432 group; fair results (>50% reduction in swelling) were achieved in 20% and 50%, respectively. Sclerotherapy failure did not interfere with subsequent surgery. Complete spontaneous regression occurred in 5 patients under observation only.

CONCLUSIONS:

OK-432 sclerotherapy is associated with good aesthetic results in children with lymphatic malformation. Observation alone is sometimes sufficient. Surgery should be reserved for cases requiring a histologic diagnosis, microcysticdisease, patients with an urgent clinical problem (eg, airway obstruction), and sclerotherapy failures.

Elsevier