MSK Manifestations of Chronic Diseases 3%

Question 1

What condition presents with the following:

Osteoporosis
Pathologic fractures of femur and vertebrae
Premature osteoarthritis in juvenile form
Hepatosplenomegaly

Answer 1

Gaucher disease
Deficiency of glucocerebrosidase causing accumulation of glucocerebroside

Spingolipidosis
AR

Question 2

What condition presents with the following:

Recurrent fever
Severe distal arthritis
Burning, tingling pain aggravated by hot temp or exercise
Claw hand (limited finger extension)
Rash: angiokeratoma
Osteonecrosis of weight-bearing bones

Answer 2

Fabry disease
Deficiency of ceramide trihexosidase causing accumulation of triglycosylceramide

Sphingolipidosis
X-linked recessive

Question 3

What condition presents with the following:

Painful red masses along the tendon sheaths, pressure points, around joints at wrists, elbows, knees, ankles, small joints of hands/feet
Developmental motor delay and mental retardation

Coarse cry and irritability as neonate
Epiglottal and laryngeal swelling may lead to death by 2 yo

Answer 3

Farber disease
farbeR ends in R has Red painful masses

Deficiency of lysosomal acid ceramidase leading to glycolipid accumulation in cytoplasm

Sphingolipidosis
Autosomal recessive

Question 4

What is Cystic fibrosis–related arthropathy?

1. Time course of disease
2. Is it destructive?
3. Which joints?

Answer 4

Cystic fibrosis–related arthropathy is typically an episodic arthritis lasting days to weeks and recurring in weeks to months with rare progression to chronic joint destruction.

most common in knees

occurs in 2% to 8.5% of patients with CF

Onset is typically in the second decade

Question 5

What is Pulmonary hypertrophic osteoarthropathy?

Answer 5

Pulmonary hypertrophic osteoarthropathy occurs later in life in patients with cystic fibrosis and leads to periostitis and digital clubbing, which can be related to declining pulmonary function.

pain along the long bones with periostitis, digital clubbing with symmetric arthralgia, and effusions in the knees, wrists, and ankles (rare hand synovitis).