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A challenging diagnosis: hereditary angioedema presenting during pregnancy

Author/s: 
Chair, I., Lacuesta, G., Nash, C. M., Cook, V.

• Hereditary angioedema (HAE) is a rare autosomal dominant
disorder characterized by recurrent episodes of painful (and
usually asymmetric) swelling without urticaria that leads to
substantial morbidity and even mortality (in the case of
laryngeal involvement) if left untreated.
• Delayed diagnosis and misdiagnosis of HAE are common,
particularly during pregnancy and the postpartum period.
• Hereditary angioedema should be considered in the differential
diagnosis of any patient presenting with unexplained
abdominal pain and recurrent episodes of angioedema
(particularly if asymmetric in nature) without urticaria.
• Tests to confirm the diagnosis of HAE include measurement of
C4 and C1 inhibitor (INH) antigen and function.
• Successful pregnancy and delivery are possible in HAE with
proper medical management, which includes plasma-derived
C1-INH and collaboration with HAE specialists.

Keywords 
abdominal pain Morbidity diagnosis, differential Hereditary angioedema (HAE) female

The Many Faces of Cobalamin (Vitamin B12) Deficiency

Author/s: 
Wolffenbuttel, Bruce, Wouters, Hanneke J.C.M., Heiner-Fokkema, Rebecca, van der Klauw, Melanie M.

Although cobalamin (vitamin B12) deficiency was described over a century ago, it is still difficult toestablish the correct diagnosis and prescribe the right treatment. Symptoms related to vitamin B12 deficiency may be diverse and vary from neurologic to psychiatric. A number of individuals with vitamin B12 deficiency may present with the classic megaloblastic anemia.
In clinical practice, many cases of vitamin B12 deficiency are overlooked or sometimes even misdiagnosed. In this review, we describe the heterogeneous disease spectrum of patients with vitamin B12 deficiency in whom the diagnosis was either based on low serum B12 levels, elevated biomarkers like methylmalonic acid and/or homocysteine, or the improvement of clinical symptoms after the institution of parenteral vitamin B12 therapy. We discuss the possible clinical signs and symptoms of patients with B12 deficiency and the various pitfalls of diagnosis and treatment.

Keywords 
Vitamin B 12 Biomarkers diagnosis

The Many Faces of Cobalamin (Vitamin B12) Deficiency

Author/s: 
Wolffenbuttel, Bruce, Wouters, Hanneke J.C.M., Heiner-Fokkema, Rebecca, van der Klauw, Melanie M.

Although cobalamin (vitamin B12) deficiency was described over a century ago, it is still difficult toestablish the correct diagnosis and prescribe the right treatment. Symptoms related to vitamin B12 deficiency may be diverse and vary from neurologic to psychiatric. A number of individuals with vitamin B12 deficiency may present with the classic megaloblastic anemia.
In clinical practice, many cases of vitamin B12 deficiency are overlooked or sometimes even misdiagnosed. In this review, we describe the heterogeneous disease spectrum of patients with vitamin B12 deficiency in whom the diagnosis was either based on low serum B12 levels, elevated biomarkers like methylmalonic acid and/or homocysteine, or the improvement of clinical symptoms after the institution of parenteral vitamin B12 therapy. We discuss the possible clinical signs and symptoms of patients with B12 deficiency and the various pitfalls of diagnosis and treatment.

Keywords 
Vitamin B 12 Biomarkers diagnosis
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