A 22-year old, unmarried female patient attended the dermatology out-patient clinic with complaints of multiple, small
Posted: Thu Jan 13, 2022 5:16 am
A 22-year old, unmarried female patient attended the dermatology
out-patient clinic with
complaints of multiple, small to large (2 mm to 3 cm) soft,
asymptomatic yellow colored
nodular lesions all over the body since the age of 2 years.
Subsequently, the patient was
referred for biochemical investigations, where an altered lipid
profile was noticed.
A detailed history from the parents revealed that the patient
developed the swellings
since the age of 1.5 years, which gradually increased to the
present size. At the age of 3
years, the patient was treated by a local doctor and later took
some native medicines but
the symptoms did not subside.
Since then she is not on any medications. The patient was born to
non-consanguineous
parents and her developmental milestones were normal. There is no
history of chest pain,
breathlessness, hypertension, diabetes mellitus, hypothyroidism or
any other chronic
illness and she is not on any medications.
Lab results:
Hematological parameters: within normal limits
FBS: 77 mg/dL
Urea, creatinine, liver function tests and thyroid function tests:
all were within normal
limits
Histopathology examination of the biopsy specimens confirmed the
diagnosis of
xanthoma.
Total cholesterol: 580 mg/dL
Triglycerides: 134 mg/dL
LDL: 512 mg/dL
HDL: 93 mg/dL
Questions:
1. What is the most likely diagnosis of this patient?
2. What are the most significant lab results that supports the
diagnosis in question
1?
3. What is the significance of the patient’s history stating that
she has developed
symptoms in her childhood?
4. The parents of this patients were not relatives. What is the
significance of this
information?
5. What are the most probable health risks for this patient?
6. What might leads to development of xanthoma? What is its
contents?
out-patient clinic with
complaints of multiple, small to large (2 mm to 3 cm) soft,
asymptomatic yellow colored
nodular lesions all over the body since the age of 2 years.
Subsequently, the patient was
referred for biochemical investigations, where an altered lipid
profile was noticed.
A detailed history from the parents revealed that the patient
developed the swellings
since the age of 1.5 years, which gradually increased to the
present size. At the age of 3
years, the patient was treated by a local doctor and later took
some native medicines but
the symptoms did not subside.
Since then she is not on any medications. The patient was born to
non-consanguineous
parents and her developmental milestones were normal. There is no
history of chest pain,
breathlessness, hypertension, diabetes mellitus, hypothyroidism or
any other chronic
illness and she is not on any medications.
Lab results:
Hematological parameters: within normal limits
FBS: 77 mg/dL
Urea, creatinine, liver function tests and thyroid function tests:
all were within normal
limits
Histopathology examination of the biopsy specimens confirmed the
diagnosis of
xanthoma.
Total cholesterol: 580 mg/dL
Triglycerides: 134 mg/dL
LDL: 512 mg/dL
HDL: 93 mg/dL
Questions:
1. What is the most likely diagnosis of this patient?
2. What are the most significant lab results that supports the
diagnosis in question
1?
3. What is the significance of the patient’s history stating that
she has developed
symptoms in her childhood?
4. The parents of this patients were not relatives. What is the
significance of this
information?
5. What are the most probable health risks for this patient?
6. What might leads to development of xanthoma? What is its
contents?