Researchers in Brazil identified a set of signs and symptoms of Gaucher disease to help establish a priority nursing diagnosis for the disease. This allows nurses to distinguish the rare cases of Gaucher from conditions that share some of the same features.
A nursing diagnosis is a nurse’s best judgment concerning a response to health conditions or life processes, or the identification of a vulnerability. A nursing diagnosis provides the basis for interventions for which the nurse is accountable.
The study, “Signs and symptoms in Gaucher Disease: priority nursing diagnoses,” was published in the Brazilian Journal of Nursing.
The study included 91 patients who were diagnosed with Gaucher disease based on genetic testing.
In 15.4% of the cases, the diagnosis were confirmed in the patients’ parents. In 13.2% of patients, the diagnosis was confirmed by family screening. There were two (2.2%) cases of a history of consanguinity (marriage between blood relatives).
Regarding the clinical profile of the patients, the main signs identified were splenomegaly, or enlarged spleen; anemia (low blood iron), thrombocytopenia (low levels of platelets in the blood); hepatomegaly, or enlarged liver; and bone pain. Most of the patients (45.1%) showed at least one clinical sign, and 34.1% of patients had two signs.
Also, most patients (36.3%) had at least two symptoms of Gaucher disease, 17.6% had at least one, and 16.5% of patients had three symptoms.
The most frequent symptoms were fatigue, lack of appetite, bone and joint pain, and abdominal discomfort.
As a result, the study identified these nursing diagnoses that characterize Gaucher disease:
- risk for bleeding;
- chronic pain;
- acute pain;
- impaired physical mobility;
- imbalanced nutrition: eating less than the body requires;
- risk for developmental delay.
The researchers point out that early diagnosis of Gaucher is the best way to control the disease and provides a positive impact on patients’ quality of life.
They said the nursing diagnoses gathered from the study will allow nurses to better address patients’ issues and result in better and more individualized care.
“The study could favor future nursing actions that meet the needs of patients with Gaucher disease, as well as improve care protocols and thus contribute to individualized care of these patients,” the study’s researchers wrote.
The diagnoses of fatigue, risk for bleeding, chronic pain, acute pain, impaired physical mobility, imbalanced nutrition, and risk for developmental delay “were inferred from the signs and symptoms identified in the sample studied [and] reinforces the selection of these nursing diagnostics as a priority in the care of patients with Gaucher disease,” they added.
“The above-mentioned nursing diagnoses are in agreement with the defining characteristics and related factors selected from the clinical complaints of patients with Gaucher disease, which provides us [with] a reliable clinical judgment in the choice of interventions and nursing actions …,” they concluded.