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Gout Case File

47-year-old male presents with an acute onset of right toe pain in the middle of night after drinking alcohol and no history of trauma or any other

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58 views2 pages

Gout Case File

47-year-old male presents with an acute onset of right toe pain in the middle of night after drinking alcohol and no history of trauma or any other

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https://medical-phd.blogspot.com
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Gout Case File

https://medical-phd.blogspot.com/2021/03/gout-case-file.html
Authors: Eugene C.Toy, MD, William E. Seifert, Jr., PHD, Henry W. Strobel, PHD, Konrad P.
Harms, MD

❖ CASE 43
A 46-year-old male presents to the emergency department with severe right toe pain. The patient
was in usual state of health until early in the morning when he woke up with severe pain in his
right big toe. The patient denies any trauma to the toe and no previous history of such pain in
other joints. He did say that he had a “few too many” beers with the guys last night. On
examination, he was found to have a temperature of 38.2°C (100.8°F) and in moderate distress
secondary to the pain in his right toe. The right big toe was swollen, warm, red, and exquisitely
tender. The remainder of the examination was normal. Synovial fluid was obtained and revealed
rod- or needle-shaped crystals that were negatively birefringent under polarizing microscopy,
consistent with gout.

◆ What is the likely diagnosis?

◆ How would you make a definite diagnosis?

◆ What is the pathophysiology of this disorder?

ANSWERS TO CASE 43: GOUT

Summary: A 47-year-old male presents with an acute onset of right toe pain in the middle of
night after drinking alcohol and no history of trauma or any other joint pain.

◆ Diagnosis: Gouty arthritis.

◆ Confirming diagnosis: Demonstration of the presence of the monosodium urate crystals


within the synovial leukocytes or in material derived from tophi under polarizing microscopy.

◆ Pathophysiology: Increased conversion of purine bases to uric acid or a decreased excretion


of uric acid by the kidney. Elevated levels of the insoluble uric acid result in precipitation of
urate crystals in the joints.

CLINICAL CORRELATION
Gout is a disorder that occurs when uric acid crystallizes in the joints of the body, usually the
great toe or large joints. Hyperuricemia is a clinical condition characterized by elevated levels of
uric acid. This leads to the formation of sodium urate crystals, which are found primarily in the
joints of the extremities and in the renal interstitium. The presence of urate crystals is associated
with extreme swelling and tenderness in the joints of the extremities. This condition is often
referred to as gout or gouty arthritis. In this condition, elevated levels of uric acid are detectable
in the blood and urine, and definitive diagnosis can be made by observing the presence of urate
crystals in synovial fluid removed from affected joints. The preference of urate crystal formation
in the joints of the extremities, such as the big toe, is thought to be associated with the decreased
temperature of the extremities that aids in urate crystal formation when levels exceed solubility.

APPROACH TO URIC ACID CRYSTALLIZATION

Objectives

1. Be familiar with the uric acid pathway.


2. Know about purine base metabolism.
3. Be aware of treatment of gout with allopurinol and colchicine.

Definitions

Allopurinol: An inhibitor of the enzyme xanthine oxidase used to treat gout to decrease the
amount of sodium urate in the blood and thus prevent its crystallization in the joints.
Colchicine: A tricyclic, water-soluble alkaloid isolated from the autumn crocus. Colchicine will
inhibit microtubule formation and inhibit phagocytosis of urate crystals, thus preventing the
inflammatory events associated with a gouty attack.
Gout: An inflammatory event triggered by the crystallization of sodium urate crystals in the
joints as a result of increased levels of sodium urate in the blood.
HGPRT: Hypoxanthine-guanine phosphoribosyltransferase; the enzyme that catalyzes the
synthesis of inosine monophosphate (IMP) and guanosine monophosphate (GMP) from
hypoxanthine and guanine, respectively. It makes up part of the purine salvage pathway, a way
of recycling purine bases back to the nucleotides.
Lesch-Nyhan syndrome: A genetic disease caused by a deficiency in HGPRT that is
characterized by mental retardation and self-destructive behavior. Lesch-Nyhan patients have
increased levels of uric acid and sodium urate that lead to gout and kidney stones.
Purine salvage pathway: The synthesis of purine nucleotides by the condensation of the purine
bases with phosphoribosyl pyrophosphate. As the name suggests, it is a way in which purine
bases can be recycled back to nucleotides. The purine salvage pathway consists of two enzymes,
HGPRT and adenine phosphoribosyltransferase (APRT).
Uric acid: The final product in the degradation of purine nucleotides in human metabolism. The
salt form of uric acid, sodium urate, is present at about saturation levels in the bloodstream.
When sodium urate levels increase above this point, it can crystallize into sharp crystals, usually
in the joints where the temperature is lower.
Xanthine oxidase: The enzyme that catalyzes the final steps in purine degradation to produce
urate. This enzyme is inhibited by compounds such as allopurinol in treatment regimens
designed to decrease sodium urate concentrations in the blood.

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