Adult Male with New Onset Ascites

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Steven I. Shedlofsky

A 56-year-old white male presented with abdominal and ankle swelling of several months' duration. There was no history of chronic medical problems, except for impotence over the past 3-4 years for which he occasionally took sildenafil. The patient was on no other medications. He was a successful accountant, married with three children. He was a^-pack/day smoker and drank two or three beers each day. His father had been killed during World War II, and he had an uncle who died of liver cirrhosis 10-15 years previously. He had two brothers and two sisters who were all in good health.

On physical examination the patient was well developed, looked tanned even though it was winter, weighed 196 lb (89 kg), and had normal vital signs. The patient had several prominent stigmata of chronic liver disease, including spider angiomata on his chest, palmar erythema, Dupuytren's contractures, testicular atrophy, and female escutcheon; however, he was anicteric. He had normal chest and normal cardiac findings, and his abdomen was protuberant, but not tense. There was no palpable or ballotable liver edge, but his spleen was felt just under the left costal border. On digital rectal examination he had prominent hemorrhoids and a normal prostate. A stool sample was brown and negative for occult blood. He had 2+ pitting ankle edema.

Initial laboratory results were as follows:

Reference

Value,

Interval,

Reference

Conventional

Conventional

Value,

Interval,

Analyte

Units

Units

SI Units

SI Units

Hemoglobin

14.5 g/dL

14-18

9.0 mmol/L

8.69-11.17

Hematocrit

43%

40-54

0.43

0.40-0.54

Leukocyte count

4.9 x 103/mL

4.8-10.8

4.9 x 109/ L

4.8-10.8

MCV

92 fL

80-94

Same

Platelet count

93 x 103/mL

150-450

93 x 109/L

150 -450

Ethanol

0.0 mg/dL

0

0.0 mmol/L

0

Prothrombin

16.5 s

11-15

Same

time, INR

1.34

0.8-1.2

Reference

Value,

Interval,

Reference

Conventional

Conventional

Value,

Interval,

Analyte

Units

Units

SI Units

SI Units

Sodium

134 mmol/L

136-14

Same

Potassium

3.6 mmol/L

3.8-5.1

Same

Chloride

99 mmol/L

98-107

Same

CO2, total

27 mmol/L

23-31

Same

Urea nitrogen

8 mg/dL

8-21

2.8 mmol urea/L

2.8-7.5

Creatinine

0.8 mg/dL

0.7-1.37

1 mmol/L

62-115

Glucose

148 mg/dL

80-115

8.2 mmol/L

4.4-6.4

Protein, total

6.4 g/dL

6.2-7.6

64 g/L

62-76

Albumin

2.9 g/dL

3.2-4.6

29 g/L

32-46

Cholesterol

182 mg/dL

140-220

4.70 mmol/L

3.62-5.69

Bilirubin, total

1.3 mg/dL

0.2-1.0

22 mmol/L

3-17

AST

62 U/L

19 - 48

1.03 mkat/L

0.32-0.80

ALT

71 U/L

13 - 40

1.18 mkat/L

0.22-0.67

ALP

82 U/L

56-119

1.4 mkat/L

0.9-2.0

GGT

27 U/L

10-50

0.45 mkat/L

0.17-0.83

Urinalysis

Within normal limits

Urine sodium, random

5 mmol/L

Same

An ultrasonographic scan of the abdomen showed marked ascites with an inhomo-geneous, coarsened liver not containing any intrahepatic masses, an intact gallbladder without gallstones, and an enlarged spleen of 17.5 cm. Seven liters of peritoneal fluid was drained and the patient received albumin (42 g) after the procedure. Analysis of the fluid demonstrated a total leukocyte count of 75 x 103/mL (75 x 109/L), 20% of which were granulocytes; total protein, 0.9g/dL (9 g/L); albumin, <0.8 g/dL (<8 g/L); glucose, 120 mg/dL (6.7 mmol/L); amylase, 81 U/L (1.35 mkat/L); and LDH, 80 U/L (1.33 mkat/L). The Gram stain was negative, as was cytological examination for malignant cells. The serum ascites albumin gradient (SAAG) was >2.1 g/dL (2.9 minus <0.8) and deemed to be due to portal hypertension.

The patient was started on spironolactone (200 mg/day) and furosemide (20 mg bid) and placed on a diet of 2 g sodium/day. There was a rapid diuresis of 20 lb (9 kg) over the next 2 weeks with resolution of his ankle edema as well as less abdominal fullness. Further laboratory studies to evaluate causes for chronic liver disease were reported as follows:

Reference

Value,

Interval,

Reference

Conventional

Conventional

Value,

Interval,

Analyte

Units

Units

SI Units

SI Units

HbsAg

Negative

Negative

Same

Anti-hepatitis C Ab

Negative

Negative

Same

Antinuclear Ab

Negative

Negative

Same

Anti-smooth-muscle Ab

Negative

Negative

Same

Antiliver/kidney microsomal Ab

Negative

Negative

Same

(^-Antitrypsin

132 mg/dL

78-200

1.3 g/L

0.8-2.0

Phenotype

MiMi

Ceruloplasmin

30 mg/dL

18-45

300 mg/L

180-450

Iron, total

316 mg/dL

65-170

57 mmol/L

12-30

TIBC

312 mg/dL

250-425

56 mmol/L

Transferrin saturation Ferritin

Value, Conventional Units

Reference Interval, Conventional Units

Reference Value, Interval, SI Units SI Units

4675 ng/mL

20-50 0.98 17-270 4675 mg/L

Because of his abnormal serum iron and transferrin saturation values, a diagnosis of hereditary hemochromatosis (HH) causing cirrhosis and portal hypertension was suspected. Confirmation of HH was made by molecular analysis for the G845A (C282Y) mutation of the HFE gene1 using PCR amplification of peripheral WBC DNA followed by enzymatic digestion with Rsal. The patient was homozygous for this common mutation.

A liver biopsy was planned to confirm the diagnosis of cirrhosis and assess the degree of hepatic iron overload, but could not be performed until the patient's ascites was resolved. After several weeks of diuresis and a repeat ultrasonographic examination that showed no residual ascites, his liver biopsy revealed cirrhosis with marked iron deposition (4+) in hepatocytes and Kupffer cells. A quantitative iron determination on the biopsy sample showed 360 mmol/g dry weight (reference range, 5-22), and his "iron index" (liver iron divided by age) was 360/56 = 6.4 (see Discussion section). His serum a-fetoprotein concentration was 1.2 ng/mL (1.2 mg/L; reference range, <15). HFE molecular analysis of his siblings revealed that one sister was homozygous for C282Y mutation and a sister and brother were each heterozygous. Neither of the heterozygous siblings had the H63D mutation. None of the patient's siblings had evidence of excess iron, although the homozygote sister had a transferrin saturation of 80% (0.80).

The patient stopped all alcohol intake. An esophagogastroduodenoscopy (EGD) was normal with no esophageal or gastric varices noted. Weekly to biweekly phlebotomies of 500 mL were begun. After 17 months, and removal of 45 units of blood, the patient's serum ferritin was 24 ng/mL (24 mg/L), his transferrin saturation was 27%, and his hematocrit had fallen to 37% (0.37). His AST and ALT returned to normal. Although his initial glucose had been high on presentation, he never developed overt diabetes, and a hemoglobin Aic was 5.7%. After several years of taking spironolactone (50mg/day), the patient discontinued the drug. His ascites recurred, and a repeat paracentesis again showed a low leukocyte count with a wide SAAG. He responded to reinstitution of therapy but required larger doses. He continued to have therapeutic phlebotomies 3-5 times a year and has remained relatively stable with serum ferritins in the 30-50 ng/mL range, eight years after his diagnosis was made. Unfortunately he has been unable to work for the past 2 years owing to weakness and difficulty concentrating. Results of biannual determinations of a-fetoprotein have remained low and annual ultrasounds remain unchanged. However, a repeat EGD showed the development of varices and the patient was placed on a nonselective b -blocker (nadolol 40 mg/day).

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