Question

Did not learn in class- is in PANCE pearls

A 42-year-old man presents to your office for his annual exam; he is found to be anemic with thrombocytopenia. He does not smoke or drink, and he is sexually active. He has 2 children in their teens. He is experiencing erectile dysfunction on occasion, and he also occasionally experiences severe abdominal pain. He has had several episodes of esophageal spasm in the past year, and on 1 occasion had to go to a local ED due to the inability to swallow. He was treated and released and told to follow up with his family doctor because he had blood in his urine. He states he has noted blood in his urine upon rising in the morning 3 or 4 times over the past 3 months. He has no history of acute illness after exposure to mothballs, sulfa-based drugs, or fava beans.

Physical exam reveals a healthy-looking man with normal vital signs and mild scleral icterus. There is no organomegaly and no significant lymphadenopathy. His LDH is elevated and his CBC shows a normocytic anemia with low platelets and normal WBC. He has an unconjugated hyperbilirubinemia and a low haptoglobin level. His reticulocyte count is elevated.

What is the most likely diagnosis?

Answer 1

The most likely diagnosis is Porphyria, specifically acute intermittent porphyria (AIP). AIP is a genetic disorder that affects the production of heme and can present with symptoms such as anemia, thrombocytopenia, erectile dysfunction, abdominal pain, esophageal spasm, and blood in urine.

Step-by-step explanation:

The most likely diagnosis for the patient in the case is Porphyria. Porphyria is a group of rare genetic disorders that affect the production of heme, a component of hemoglobin. The symptoms described, such as anemia, thrombocytopenia, erectile dysfunction, abdominal pain, esophageal spasm, and blood in urine, are consistent with the manifestations of acute intermittent porphyria (AIP).

AIP is characterized by a deficiency of the enzyme porphobilinogen deaminase (PBGD), which leads to the buildup of porphobilinogen and other porphyrin precursors in the body. The condition is often triggered by factors such as medications, alcohol, hormonal changes, and certain foods.

A thorough evaluation, including further laboratory testing and genetic confirmation, would be necessary for definitive diagnosis and appropriate management of the patient.