Characterizing hematologic alterations present in lysosomal acid lipase deficiency (LAL-D), Pompe disease (PD), and other lysosomal storage disorders (LSDs) may contribute to an accurate diagnosis of these entities, according to a study recently published in the Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine.

“It is necessary to extend the study of hematological alterations to other LSDs to explore the potential of these abnormalities as a biomarker for diagnosis or treatment follow-up,” the authors wrote. This review included 56 case reports of LSDs from 2010 through 2020, out of which 1 described a cholesteryl ester storage disease, a form of LAL-D, and 3 with PD.

The most common finding among all individuals was anemia, present in almost one-third of the cases, including the patient with LAL-D; however, this individual did not report further hematologic abnormalities, as opposed to the other LSDs with 60% of them exhibiting marked thrombocytopenia of <95 x 10^3 cells/µL.

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On the other hand, 1 case of PD, a 5-month-old female, showcased thrombocytosis with a platelet count of 595 x 10^3 cells/µL, and another case of a 59-year-old patient had granular inclusions in platelets observed with electron microscopy.

As expected, most of the patients with LSDs also had alterations in the white blood cell line, especially in lymphocytes; regardless, the individual with LAL-D was not one of them. Patients diagnosed with PD presented with vacuolated lymphocytes, a known effect of glycogen accumulation.

While the diagnosis of LAL-D and PD do not include hematological parameters, all healthcare workers should be aware of the possible alterations in these patients, the authors said. This is since correlating blood work results with symptoms, past medical history, and findings in the physical examination may add LSDs to the differential diagnosis list, yielding an early diagnosis and hence initiation of therapy.

“Although these hematological alterations may not be common findings in LSDs, they may contribute to the diagnosis of the disease, especially considering that the tests to evaluate these hematological abnormalities are available in most clinical laboratories,” the authors concluded.


Leal A, Nieto W, Candelo E, Pachajoa H, Alméciga-Díaz CJ. Hematological findings in lysosomal storage disorders: a perspective from the medical laboratory. Electron J Int Fed Clin Chem Lab Med. Published online April 11, 2022.