Genetic disorder characterized by platelet disorder,
renal failure, and sensorineural deafness.
Alport Syndrome with Macrothrombocytopenia; Alport
Syndrome Type V; Macrothrombocytopathy, Nephritis, and Deafness.
Epstein Syndrome can also refer to a disorder associated with
splenomegaly, high platelet count, and prolonged bleeding time. This
disorder has also been termed Di Guglielmo Disease II or Di Guglielmo
Syndrome, Epstein-Goedel Syndrome, Mortensen Disease/Syndrome, or Revol
First reported in two families by C.J. Epstein in 1972.
Unknown; however, more than 30 families have been
reported. No sexual predilection has been reported.
Autosomal dominant with the genetic defect
mapping to 22q11.2.
The bleeding tendency is a result of
thrombocytopenia and the presence of a majority of giant spheroid platelets
with a disorganized microtubular system and a lesser number of normal-size
discoid platelets. Renal dysfunction occurs secondary to proliferative and
sclerosing glomerulonephritis with interstitial nephritis and fibrosis.
Hearing loss is gradual and of sensorineural etiology.
Based on family history, clinical features, hematologic
and nephrologic studies, and auditory examination. Hematologic studies
reveal thrombocytopenia, prolonged bleeding time, and the above described
giant platelets with abnormal ultrastructure, impaired platelet aggregation
response to collagen and epinephrine, defective platelet adherence to glass,
and impaired release of platelet factor III. The renal abnormality mainly
manifests as proteinuria, which remains stable with normal renal function,
although deterioration as a result of episodes of acute glomerulonephritis
has been described.
Patients may develop multiple ecchymoses when
they start walking and recurrent episodes of epistaxis beginning in early
childhood. Bleeding from other sites is rare and usually not significant.
High-frequency sensorineural hearing loss becomes noticeable by
approximately 5 to 8 years of age, and progression to almost complete
deafness may occur around the middle of the second decade of life.
Proteinuria begins in childhood, usually without impairment of renal
excretory function. In rare cases, episodes similar to acute
Laboratory investigations should
include a complete blood count and coagulation studies, including bleeding
time, platelet count, and a blood smear (thrombocytopenia and
ultrastructural and functional studies showing macrothrombocytopathy).
Preoperative and intraoperative platelet transfusions are often required,
and packed red blood cells should be easily available. Evaluate renal
function with serum concentrations of electrolytes, creatinine, urea, and
urine analysis (proteinuria is common, and hematuria or red blood cell
casts suggest nephritis), and obtain a nephrology consult if necessary. If
renal function is severely altered (rare), check cardiac function with
electrocardiogram (arrhythmias as a result of electrolyte abnormalities),
and further testing such as echocardiography (with or without
dobutamine-stress test) may be necessary to detect decreased cardiac
function secondary to long-standing uremia.
Platelets transfusions should be
available in the operating room before any invasive procedure. Avoid
regional anesthesia. In case of renal failure (rare), attempt to optimize
the patient's preoperative and intraoperative fluid and acid-base status. If
large volume shifts and/or blood ...